Clusters Orphanet Neuromuscular Diseases Study

We performed a phenotypic comorbidity analysis of neuromuscular diseases in Orphanet to elucidate molecular mechanisms underlying these phenotypes.

In the following sections we will be describing each step and the results genereted.

Step one: Datasets of NMDs, genes, phenotypes and typical NMD phenotypes

Orphanet have an ontology structure. we found an ontology related to neuromuscular diseases, Orphanet:183497 Genetic neuromuscular disease. We extract all child terms related to Orphanet:183497 and all of the diseases asociated with this term.

Once we have the list of neuromuscular diseases, we coun the frequency of phenotypes in neuromuscular and non neuromuscular diseases. With these data, we can perform a fisher test analysis to find those phenotypes which are more represented in neuromusculare diseases rather than in non neuromuscular diseases. We have the following results:

Table 1: Preprocesing data summary.
Metric Value
Total_Orphanet_diseases_in_HPO 2020
Total_Orphanet_phenotypes 5430
Total_Orphanet_genes 2730
Total_Orphanet_NMD 227
Total_Orphanet_NMD_in_HPO 126
Total_Orphanet_neuromuscular_phenotypes 216

Step 2: Bipartite network to obtain phenotype-phenotype associations

Table 2: Bipartite results general summary.
Metric Value
Total_phenotype_pairs 467899
Significant_phenotype_pairs 99193

In the following plot we can see the number of pairs which form the subnetwork with a HyI >= 2.

Figure 1: Number of phenotype pairs with a HyI >= 2.

Table 3: Number of phenotype pairs with a HyI >= 2.
Type Pairs Number
NMDs 2314 ± NA
non_NMDs 173.23 ± 16.43

Validating phenotype-phenotye associations by PubMed co-mention

Figure 2 Comention pvalue density plot.

Table 4 Number of co-occurrent pairs.
Type Pairs Number
NMDs 689 ± NA
non_NMDs 110.4 ± 13.469

Step 3: Tripartite network to obtain phenotype-function pairs

In this step we will get phenotype-genes pairs. Through a functional assignment of these genes we can get phenotype-function pairs.

Table 5 Tripartite results general summary.
Metric Value
Number_of_genes 2730
Number_of_phen2gene_pairs_HyI_2 36218
Number_of_genes_HyI_2 2700
NMD_genes_HyI_2 611
Total_kegg_terms_0.05 209
Total_go_terms_0.05 6281
Total_reactome_terms_0.05 1356
NMD_kegg_0.05 123
NMD_go_0.05 3618
NMD_reactome_0.05 631

Validating phenotype-function associations by PubMed co-mention

KEGG

Figure 3 Significant phenotype-KEGG pairs.

Table 6 Significant phenotype-KEGG pairs.
Type Co-occurrent pairs No co-occurrent pairs
phen2kegg_orpha 1556 ± NA 15079 ± NA
rdm_phen2kegg_orpha 627.525 ± 21.182 16007.475 ± 21.182

GO

Figure 4 Significant phenotype-GO pairs.

Table 7 Significant phenotype-GO pairs.
Type Co-occurrent pairs No co-occurrent pairs
phen2go_orpha 21863 ± NA 491681 ± NA
rdm_phen2go_orpha 9612.99 ± 93.489 503921.97 ± 93.366
Reactome

Figure 5 Significant phenotype-Reactome pairs.

Table 8 Significant phenotype-Reactome pairs.
Type Co-occurrent pairs No co-occurrent pairs
phen2reactome_orpha 2402 ± NA 71659 ± NA
rdm_phen2reactome_orpha 816.1 ± 28.712 73218.65 ± 29.929

Step 4: Cluster Analysis

With linkcomm R package we obtain a number of clusters for each network. In the following plots we show some results of the clustering process. By one hand we have measured the number of clusters obtained and the average number of nodes of each cluster.

Figure 6 Cluster analysis summary.

Table 9 Cluster analysis summary.
Type Cluster Number Average Cluster size
NMDs 150 ± NA 13.627 ± NA
non_NMDs 23.85 ± 4.293 4.146 ± 0.278

Functionally-coherent clusters of phenotypes in NMDs

Figure 7 Functional coherent clusters summary.

Table 10 Functional coherent clusters summary.
Type Cluster with 70 coherence_0.05 Cluster with 50 coherence_0.05
NMDs 72 ± NA 132 ± NA
non_NMDs 14.51 ± 3.189 21.99 ± 4.034

Clusters Details

In this section we include Orphanet neuromuscular cluster’s details.




Cluster #1

HPO Cluster Description
HP:0030196 1 Fatigable weakness of respiratory muscles
HP:0002203 1 Respiratory paralysis
HP:0003694 1 Late-onset proximal muscle weakness
HP:0003752 1 Episodic flaccid weakness
HP:0012726 1 Episodic hypokalemia
Cluster Cell function Description Phenotype_coverage Genes
1 GO:0071313 cellular response to caffeine 100 PPARGC1A, CACNA1S
1 GO:0060078 regulation of postsynaptic membrane potential 100 CHRNE, CHRND, CHRNA1, CHRNB1, GABRA3
1 GO:0098911 regulation of ventricular cardiac muscle cell action potential 80 KCNE3
1 GO:0051932 synaptic transmission, GABAergic 80 GABRA3
1 GO:0010107 potassium ion import 80 KCNJ18
1 GO:1905031 regulation of membrane repolarization during cardiac muscle cell action potential 80 KCNE3
1 GO:0045822 negative regulation of heart contraction 80 KCNE3
1 GO:1990573 potassium ion import across plasma membrane 80 KCNJ18
1 GO:0086091 regulation of heart rate by cardiac conduction 80 KCNE3
1 GO:0045759 negative regulation of action potential 80 KCNE3
1 GO:0019226 transmission of nerve impulse 80 SOD1, SCN4A, CHRNA1
1 GO:0071435 potassium ion export 80 KCNE3
1 GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential 80 KCNE3
1 GO:1901387 positive regulation of voltage-gated calcium channel activity 80 KCNE3
1 GO:0003009 skeletal muscle contraction 80 CHRNB1, SCN4A, CHRND, CHRNA1
1 GO:0007214 gamma-aminobutyric acid signaling pathway 80 GABRA3
1 GO:0097623 potassium ion export across plasma membrane 80 KCNE3
1 GO:0070509 calcium ion import 80 CACNA1S
1 GO:1902476 chloride transmembrane transport 80 GABRA3
1 GO:1902260 negative regulation of delayed rectifier potassium channel activity 80 KCNE3
1 GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization 80 KCNE3
1 GO:0071804 cellular potassium ion transport 80 KCNE3, KCNJ18
1 GO:0045988 negative regulation of striated muscle contraction 80 KCNE3
1 R-HSA-5576891 Cardiac conduction 80 CACNA1S, SCN4A, KCNE3
1 R-HSA-397014 Muscle contraction 80 CACNA1S, SCN4A, KCNE3
1 R-HSA-977443 GABA receptor activation 80 GABRA3
1 R-HSA-375165 NCAM signaling for neurite out-growth 80 CACNA1S
1 R-HSA-5576893 Phase 2 - plateau phase 80 CACNA1S, KCNE3
1 R-HSA-5576892 Phase 0 - rapid depolarisation 80 CACNA1S, SCN4A
1 R-HSA-419037 NCAM1 interactions 80 CACNA1S



Cluster #2

HPO Cluster Description
HP:0002515 2 Waddling gait
HP:0008956 2 Proximal lower limb amyotrophy
HP:0008994 2 Proximal muscle weakness in lower limbs
HP:0003236 2 Elevated serum creatine kinase
HP:0001644 2 Dilated cardiomyopathy
HP:0003306 2 Spinal rigidity
HP:0003691 2 Scapular winging
HP:0003458 2 EMG: myopathic abnormalities
HP:0008997 2 Proximal muscle weakness in upper limbs
HP:0003805 2 Rimmed vacuoles
HP:0002987 2 Elbow flexion contracture
HP:0011807 2 Type 1 muscle fiber atrophy
HP:0006785 2 Limb-girdle muscular dystrophy
HP:0008948 2 Proximal upper limb amyotrophy
HP:0001771 2 Achilles tendon contracture
HP:0004631 2 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0001678 2 Atrioventricular block
Cluster Cell function Description Phenotype_coverage Genes
2 hsa05410 Hypertrophic cardiomyopathy (HCM) 100.00000 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
2 hsa05414 Dilated cardiomyopathy 100.00000 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
2 GO:0007084 mitotic nuclear envelope reassembly 82.35294 EMD, LMNA
2 hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 76.47059 SGCD, SGCG, DAG1, EMD, ITGA7, SGCA, LMNA
2 GO:0007517 muscle organ development 76.47059 MYF6, KLHL41, NEB, SGCD, CAPN3, SELENON, TTN, EMD, FKTN, FHL1, DMD, CFL2, ITGA7, RYR1, MYH7, SGCA, FOS, ACTA1, MYL2, SGCG, LARGE1, TAZ
2 R-HSA-2995410 Nuclear Envelope Reassembly 76.47059 LMNA, EMD
2 R-HSA-4419969 Depolymerisation of the Nuclear Lamina 76.47059 LMNA, EMD
2 R-HSA-2995383 Initiation of Nuclear Envelope Reformation 76.47059 LMNA, EMD
2 GO:0003012 muscle system process 70.58824 NEB, SGCD, MYOT, ACTA1, TTN, DMD, MYL2, TPM2, SCN4A, LMNA, EMD, KLHL41, RYR1, MYH7, SGCA, PABPN1, TAZ, TPM3
2 GO:0014706 striated muscle tissue development 70.58824 NEB, SGCD, ACVR1, SELENON, ACTA1, CFL2, TTN, MYL2, LMNA, MYF6, SGCG, EMD, KLHL41, RYR1, MYH7, TAZ, FOS
2 R-HSA-2980766 Nuclear Envelope Breakdown 70.58824 LMNA, EMD



Cluster #3

HPO Cluster Description
HP:0002515 3 Waddling gait
HP:0008981 3 Calf muscle hypertrophy
HP:0001349 3 Facial diplegia
HP:0003691 3 Scapular winging
HP:0003803 3 Type 1 muscle fiber predominance
HP:0002747 3 Respiratory insufficiency due to muscle weakness
HP:0002792 3 Reduced vital capacity
Cluster Cell function Description Phenotype_coverage Genes
3 R-HSA-445355 Smooth Muscle Contraction 100.00000 TPM3, TPM2, DYSF
3 hsa05410 Hypertrophic cardiomyopathy (HCM) 85.71429 MYL2, TTN, TPM3, TPM2, EMD, ITGA7, LMNA
3 hsa05414 Dilated cardiomyopathy 85.71429 MYL2, TTN, TPM3, TPM2, EMD, ITGA7, LMNA
3 GO:0030049 muscle filament sliding 85.71429 NEB, TNNT1, ACTA1, TTN, MYL2, TPM2, TPM3
3 GO:0030239 myofibril assembly 85.71429 NEB, TNNT1, ACTA1, TTN, CFL2, MYL2, LMOD3, KLHL41
3 R-HSA-397014 Muscle contraction 85.71429 TTN, TPM2, RYR1, ACTA1, TPM3, TNNT1, NEB, MYL2
3 R-HSA-390522 Striated Muscle Contraction 85.71429 TTN, TPM2, ACTA1, TPM3, TNNT1, NEB, MYL2
3 hsa04260 Cardiac muscle contraction 71.42857 MYL2, TPM3, TPM2
3 GO:0048741 skeletal muscle fiber development 71.42857 SELENON, ACTA1, MYF6, LMOD3, KLHL41, RYR1, KLHL40



Cluster #7

HPO Cluster Description
HP:0009027 7 Foot dorsiflexor weakness
HP:0001290 7 Generalized hypotonia
HP:0002515 7 Waddling gait
HP:0009046 7 Difficulty running
HP:0003557 7 Increased variability in muscle fiber diameter
HP:0030200 7 Fatiguable weakness of proximal limb muscles
Cluster Cell function Description Phenotype_coverage Genes
7 GO:0007517 muscle organ development 100.00000 NEB, SELENON, TTN, ACTA1, SPEG, CFL2, CASQ1, SGCG, KLHL41, LMOD3, RYR1, MYH7
7 GO:0048747 muscle fiber development 100.00000 NEB, SELENON, TTN, ACTA1, KLHL41, LMOD3, RYR1, FLNC
7 GO:0014706 striated muscle tissue development 83.33333 NEB, SELENON, TTN, ACTA1, CFL2, CASQ1, LMNA, KLHL41, LMOD3, RYR1, MYH7
7 GO:0006936 muscle contraction 83.33333 NEB, TTN, ACTA1, TPM2, CASQ1, BIN1, KLHL41, LMOD3, RYR1, MYH7, TPM3
7 GO:0030239 myofibril assembly 83.33333 NEB, TTN, ACTA1, CFL2, MYPN, CASQ1, KLHL41, LMOD3



Cluster #25

HPO Cluster Description
HP:0002015 25 Dysphagia
HP:0001644 25 Dilated cardiomyopathy
HP:0003200 25 Ragged-red muscle fibers
HP:0002578 25 Gastroparesis
HP:0003737 25 Mitochondrial myopathy
Cluster Cell function Description Phenotype_coverage Genes
25 GO:0006264 mitochondrial DNA replication 100 TWNK, DNA2, POLG2, RRM2B, MGME1, POLG
25 GO:0032042 mitochondrial DNA metabolic process 100 TWNK, DNA2, POLG2, RRM2B, MGME1, POLG
25 GO:0046034 ATP metabolic process 80 COX2, COX3, ND6, NDUFA11, ND3, NDUFV1, NDUFAF1, PINK1, ND2, ATP7A, NDUFS1, NDUFB10, SNCA, NDUFS6, NDUFA6, NDUFS3, ND1, NDUFB3, NDUFS7, NDUFS4, MYH7, NDUFV2, ATP8, NDUFB11, ND4, PARK7, NDUFS8, NDUFB9, TAZ, ND5, COX1, NDUFA1
25 GO:0009167 purine ribonucleoside monophosphate metabolic process 80 COX2, COX3, ND6, NDUFA11, ND3, NDUFV1, NDUFAF1, PINK1, ND2, ATP7A, NDUFS1, NDUFB10, SNCA, NDUFS6, NDUFA6, NDUFS3, ND1, NDUFB3, NDUFS7, NDUFS4, MYH7, NDUFV2, ATP8, NDUFB11, ND4, PARK7, NDUFS8, NDUFB9, TAZ, ND5, COX1, NDUFA1
25 GO:0045333 cellular respiration 80 COX2, COX3, ND6, NDUFA11, ND3, NDUFV1, NDUFAF1, PINK1, ND2, NDUFS1, PRDM16, NDUFB10, SNCA, NDUFS6, NDUFA6, NDUFS3, ND1, POLG2, NDUFAF2, NDUFB3, NDUFS7, NDUFS4, NDUFV2, NDUFB11, ND4, PARK7, NDUFS8, NDUFB9, TAZ, ND5, COX1, NDUFA1
25 GO:0009205 purine ribonucleoside triphosphate metabolic process 80 COX2, COX3, ND6, NDUFA11, ND3, NDUFV1, NDUFAF1, PINK1, ND2, ATP7A, NDUFS1, NDUFB10, SNCA, NDUFS6, NDUFA6, NDUFS3, ND1, NDUFB3, NDUFS7, NDUFS4, MYH7, NDUFV2, ATP8, NDUFB11, LRRK2, ND4, PARK7, NDUFS8, NDUFB9, TAZ, ND5, COX1, NDUFA1



Cluster #29

HPO Cluster Description
HP:0008981 29 Calf muscle hypertrophy
HP:0003236 29 Elevated serum creatine kinase
HP:0025169 29 Left ventricular systolic dysfunction
HP:0030099 29 Reduced muscle fiber alpha dystroglycan
HP:0030197 29 Fatigable weakness of skeletal muscles
Cluster Cell function Description Phenotype_coverage Genes
29 hsa00514 Other types of O-glycan biosynthesis 100 POMT1, POMT2, POMGNT1
29 GO:0060049 regulation of protein glycosylation 100 FKTN, POMT1, POMT2
29 GO:0035269 protein O-linked mannosylation 100 POMT1, FKRP, CRPPA, LARGE1, FKTN, POMT2
29 GO:0071712 ER-associated misfolded protein catabolic process 100 POMT2
29 GO:0010560 positive regulation of glycoprotein biosynthetic process 100 POMT1, POMT2
29 R-HSA-3781865 Diseases of glycosylation 100 POMT2, POMT1, DAG1, LARGE1, POMGNT1
29 R-HSA-3906995 Diseases associated with O-glycosylation of proteins 100 POMT2, POMT1, DAG1, LARGE1, POMGNT1
29 R-HSA-5173105 O-linked glycosylation 100 POMT2, POMT1, DAG1, LARGE1, POMGNT1, POMK



Cluster #41

HPO Cluster Description
HP:0004756 41 Ventricular tachycardia
HP:0008331 41 Elevated creatine kinase after exercise
HP:0008978 41 Necrotizing myopathy
HP:0009045 41 Exercise-induced rhabdomyolysis
Cluster Cell function Description Phenotype_coverage Genes
41 GO:0071313 cellular response to caffeine 100 CASQ2, CACNA1S, RYR2
41 GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase 75 ACADVL, ACADL
41 GO:0061337 cardiac conduction 75 CALM1, CASQ2, CACNA1S, RYR2, CALM3, CALM2, TRDN
41 GO:0045717 negative regulation of fatty acid biosynthetic process 75 ACADVL, ACADL
41 GO:0046322 negative regulation of fatty acid oxidation 75 ACADVL, ACADL
41 R-HSA-5576891 Cardiac conduction 75 CACNA1S, CASQ2, CALM1, CALM2, CALM3, RYR2, TRDN
41 R-HSA-5576893 Phase 2 - plateau phase 75 CACNA1S
41 R-HSA-5576892 Phase 0 - rapid depolarisation 75 CALM3, CACNA1S, CALM1, CALM2
41 R-HSA-419037 NCAM1 interactions 75 CACNA1S



Cluster #60

HPO Cluster Description
HP:0001270 60 Motor delay
HP:0002515 60 Waddling gait
HP:0003323 60 Progressive muscle weakness
HP:0003273 60 Hip contracture
HP:0003803 60 Type 1 muscle fiber predominance
HP:0002747 60 Respiratory insufficiency due to muscle weakness
HP:0003458 60 EMG: myopathic abnormalities
Cluster Cell function Description Phenotype_coverage Genes
60 hsa05410 Hypertrophic cardiomyopathy (HCM) 100.00000 MYL2, DES, TTN, TPM3, TPM2, EMD, ITGA7, LMNA, MYH7
60 hsa05414 Dilated cardiomyopathy 100.00000 MYL2, DES, TTN, TPM3, TPM2, EMD, ITGA7, LMNA, MYH7
60 GO:0030049 muscle filament sliding 100.00000 NEB, TNNT1, ACTA1, DES, TTN, MYL2, TPM2, MYH7, TPM3
60 GO:0043501 skeletal muscle adaptation 100.00000 MYH7, TNNT1, ACTA1
60 GO:0030239 myofibril assembly 100.00000 NEB, TNNT1, ACTA1, TTN, CFL2, MYL2, MYPN, KLHL41, LMOD3
60 R-HSA-397014 Muscle contraction 100.00000 DES, TTN, TPM2, RYR1, ACTA1, TPM3, SCN4A, TNNT1, NEB, MYL2
60 R-HSA-390522 Striated Muscle Contraction 100.00000 DES, TTN, TPM2, ACTA1, TPM3, TNNT1, NEB, MYL2
60 GO:0048741 skeletal muscle fiber development 85.71429 SELENON, ACTA1, MYF6, KLHL41, LMOD3, RYR1, KLHL40
60 R-HSA-445355 Smooth Muscle Contraction 71.42857 TPM3, TPM2



Cluster #74

HPO Cluster Description
HP:0008800 74 Limited hip movement
HP:0003327 74 Axial muscle weakness
HP:0002747 74 Respiratory insufficiency due to muscle weakness
HP:0008963 74 Tibialis muscle weakness
HP:0002111 74 Restrictive deficit on pulmonary function testing
HP:0003555 74 Muscle fiber splitting
HP:0008978 74 Necrotizing myopathy
HP:0031237 74 Internally nucleated skeletal muscle fibers
Cluster Cell function Description Phenotype_coverage Genes
74 GO:0048747 muscle fiber development 100.0 NEB, ACTA1, SELENON, TTN, MYL2, DYSF, MYF6, LMOD3, KLHL41, RYR1, KLHL40
74 R-HSA-397014 Muscle contraction 87.5 CACNA1S, TTN, TPM2, RYR1, ACTA1, TPM3, DYSF, TNNT1, NEB, MYL2
74 GO:0007517 muscle organ development 75.0 NEB, ACTA1, SELENON, CFL2, FHL1, MYL2, TTN, ITGA7, MYF6, EMD, LMOD3, KLHL41, RYR1, MYH7, KLHL40
74 GO:0030049 muscle filament sliding 75.0 NEB, TNNT1, ACTA1, TTN, MYL2, TPM2, MYH7, TPM3
74 GO:0014706 striated muscle tissue development 75.0 NEB, ACTA1, SELENON, CFL2, MYL2, TTN, MYF6, EMD, LMOD3, KLHL41, RYR1, MYH7, KLHL40
74 GO:0030239 myofibril assembly 75.0 NEB, TNNT1, ACTA1, TTN, CFL2, MYL2, LMOD3, KLHL41
74 R-HSA-390522 Striated Muscle Contraction 75.0 TTN, TPM2, ACTA1, TPM3, TNNT1, NEB, MYL2



Cluster #115

HPO Cluster Description
HP:0001270 115 Motor delay
HP:0002375 115 Hypokinesia
HP:0001561 115 Polyhydramnios
HP:0001558 115 Decreased fetal movement
HP:0001349 115 Facial diplegia
HP:0003803 115 Type 1 muscle fiber predominance
HP:0001623 115 Breech presentation
HP:0003798 115 Nemaline bodies
HP:0005855 115 Multiple prenatal fractures
HP:0009025 115 Increased connective tissue
HP:0001989 115 Fetal akinesia sequence
Cluster Cell function Description Phenotype_coverage Genes
115 GO:0030049 muscle filament sliding 100.00000 NEB, TNNT1, ACTA1, TTN, TPM2, TPM3
115 R-HSA-390522 Striated Muscle Contraction 100.00000 TTN, TPM2, ACTA1, TPM3, TNNT1, NEB
115 GO:0030240 skeletal muscle thin filament assembly 90.90909 LMOD3, ACTA1, TTN
115 hsa05410 Hypertrophic cardiomyopathy (HCM) 81.81818 TTN, LAMA2, ITGB4, TPM3, TPM2
115 hsa05414 Dilated cardiomyopathy 81.81818 TTN, LAMA2, ITGB4, TPM3, TPM2
115 GO:0031272 regulation of pseudopodium assembly 81.81818 KLHL41
115 GO:0048742 regulation of skeletal muscle fiber development 81.81818 MYOD1, LMOD3, MYF6
115 GO:2000291 regulation of myoblast proliferation 81.81818 MYOD1, KLHL41
115 GO:0045214 sarcomere organization 72.72727 TNNT1, TTN, CFL2, MYPN, KLHL41
115 GO:0035914 skeletal muscle cell differentiation 72.72727 MYOD1, KLHL41, KLHL40, MYF6
115 GO:0030832 regulation of actin filament length 72.72727 NEB, BIN1, LMOD3, CFL2
115 R-HSA-397014 Muscle contraction 72.72727 TTN, TPM2, RYR1, ACTA1, TPM3, TNNT1, NEB



Cluster #122

HPO Cluster Description
HP:0001663 122 Ventricular fibrillation
HP:0011712 122 Right bundle branch block
HP:0004756 122 Ventricular tachycardia
HP:0001678 122 Atrioventricular block
Cluster Cell function Description Phenotype_coverage Genes
122 hsa05410 Hypertrophic cardiomyopathy (HCM) 100 CACNA1S, CACNB2, CACNA2D1, LMNA, EMD, RYR2, CACNA1C
122 hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 100 PKP2, CACNA1S, CACNB2, CACNA2D1, LMNA, EMD, RYR2, CACNA1C
122 hsa05414 Dilated cardiomyopathy 100 CACNA1S, CACNB2, CACNA2D1, LMNA, EMD, RYR2, CACNA1C
122 hsa04260 Cardiac muscle contraction 75 CACNA1S, CACNB2, CACNA2D1, RYR2, CACNA1C
122 GO:0098911 regulation of ventricular cardiac muscle cell action potential 75 RYR2, KCNE3, PKP2, CACNA1C
122 GO:0086070 SA node cell to atrial cardiac muscle cell communication 75 RYR2, HCN4, SCN3B
122 GO:0043268 positive regulation of potassium ion transport 75 KCNE1, FHL1, KCNE5, KCNJ2, AKAP9, KCNH2, KCNQ1
122 GO:1901841 regulation of high voltage-gated calcium channel activity 75 CACNB2, CALM3, CACNA2D1
122 GO:0086014 atrial cardiac muscle cell action potential 75 CACNA1C, KCNE5, RYR2, CACNB2, KCNQ1, SCN3B
122 GO:2001259 positive regulation of cation channel activity 75 CALM1, CACNA2D1, CACNB2, KCNE3, CALM3, CALM2, TRDN
122 GO:0086016 AV node cell action potential 75 RYR2, CACNB2, CACNA1C
122 GO:1901021 positive regulation of calcium ion transmembrane transporter activity 75 CALM1, CACNA2D1, RYR2, CACNB2, KCNE3, CALM3, CALM2, TRDN
122 GO:0086064 cell communication by electrical coupling involved in cardiac conduction 75 CALM1, PKP2, CACNA1C, RYR2, CALM3, CALM2, TRDN
122 GO:2001258 negative regulation of cation channel activity 75 CALM1, KCNE1, CASQ2, KCNE5, KCNE3, CALM3, CALM2, TRDN
122 GO:0002027 regulation of heart rate 75 KCNE1, KCNE5, AKAP9, KCNH2, SCN3B, KCND3, CASQ2, SCN2B, RYR2, CACNB2, GPD1L, CACNA1C, KCNE3, CALM3, KCNQ1, CALM1, RANGRF, PKP2, HCN4, CACNA2D1, KCNJ2, CALM2
122 GO:1901017 negative regulation of potassium ion transmembrane transporter activity 75 CASQ2, KCNE1, KCNE5, KCNE3
122 GO:0060306 regulation of membrane repolarization 75 KCNE1, CASQ2, KCNE5, CACNA2D1, KCNJ2, AKAP9, KCNE3, KCNH2, KCNQ1
122 GO:0014074 response to purine-containing compound 75 KCNE1, CASQ2, CACNA1S, HCN4, RYR2, AKAP9, KCNQ1
122 GO:0051899 membrane depolarization 75 RANGRF, SLMAP, CACNA1C, FHL1, HCN4, CACNA2D1, SCN2B, KCNJ2, CACNB2, GPD1L, KCNH2, SCN3B
122 GO:0007204 positive regulation of cytosolic calcium ion concentration 75 CALM1, CACNA1C, CASQ2, CACNA2D1, RYR2, CACNB2, CALM3, CALM2, TRDN
122 GO:0055117 regulation of cardiac muscle contraction 75 CALM1, RANGRF, PKP2, CACNA1C, CASQ2, HCN4, KCNJ2, RYR2, AKAP9, KCNE3, CALM3, KCNQ1, CALM2
122 GO:0097553 calcium ion transmembrane import into cytosol 75 CALM1, CACNA1C, CASQ2, CACNA2D1, RYR2, CALM3, CALM2, TRDN
122 R-HSA-112316 Neuronal System 75 HCN4, KCNH2, KCND3, GABRA3, CALM1, CALM2, CALM3, KCNJ8, KCNQ1, KCNJ2, CACNA2D1, CACNB2
122 R-HSA-397014 Muscle contraction 75 SCN2B, KCNE3, RYR2, AKAP9, CACNB2, CACNA1C, CACNA1S, RANGRF, KCNE5, KCNQ1, CACNA2D1, TRDN, KCND3, CALM3, KCNJ2, KCNH2, KCNE1, CASQ2, SCN3B, CALM1, CALM2
122 R-HSA-5576891 Cardiac conduction 75 SCN2B, KCNE3, RYR2, AKAP9, CACNB2, CACNA1C, CACNA1S, RANGRF, KCNE5, KCNQ1, CACNA2D1, TRDN, KCND3, CALM3, KCNJ2, KCNH2, KCNE1, CASQ2, SCN3B, CALM1, CALM2
122 R-HSA-5576893 Phase 2 - plateau phase 75 CACNA1C, KCNE1, CACNA1S, KCNE3, AKAP9, KCNQ1, CACNA2D1, CACNB2, KCNE5
122 R-HSA-5576892 Phase 0 - rapid depolarisation 75 CACNA1C, CACNA1S, SCN2B, SCN3B, RANGRF, CALM1, CALM2, CALM3, CACNA2D1, CACNB2
122 R-HSA-419037 NCAM1 interactions 75 CACNA1C, CACNA1S, CACNB2



Cluster #150

HPO Cluster Description
HP:0009020 150 Exercise-induced muscle fatigue
HP:0003457 150 EMG abnormality
HP:0011998 150 Postprandial hyperglycemia
HP:0012240 150 Increased intramyocellular lipid droplets
HP:0002203 150 Respiratory paralysis
HP:0003694 150 Late-onset proximal muscle weakness
HP:0003752 150 Episodic flaccid weakness
HP:0008153 150 Periodic hypokalemic paresis
HP:0012726 150 Episodic hypokalemia
Cluster Cell function Description Phenotype_coverage Genes
150 R-HSA-5576891 Cardiac conduction 100.00000 CACNA1S, SCN4A, KCNE3
150 R-HSA-397014 Muscle contraction 100.00000 CACNA1S, SCN4A, KCNE3
150 R-HSA-5576893 Phase 2 - plateau phase 100.00000 CACNA1S, KCNE3
150 GO:0071313 cellular response to caffeine 88.88889 CACNA1S
150 GO:0098911 regulation of ventricular cardiac muscle cell action potential 77.77778 KCNE3
150 GO:0051932 synaptic transmission, GABAergic 77.77778 GABRA3
150 GO:0010107 potassium ion import 77.77778 KCNJ18
150 GO:1905031 regulation of membrane repolarization during cardiac muscle cell action potential 77.77778 KCNE3
150 GO:0045822 negative regulation of heart contraction 77.77778 KCNE3
150 GO:1990573 potassium ion import across plasma membrane 77.77778 KCNJ18
150 GO:0086091 regulation of heart rate by cardiac conduction 77.77778 KCNE3
150 GO:0045759 negative regulation of action potential 77.77778 KCNE3
150 GO:0071435 potassium ion export 77.77778 KCNE3
150 GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential 77.77778 KCNE3
150 GO:1901387 positive regulation of voltage-gated calcium channel activity 77.77778 KCNE3
150 GO:0007214 gamma-aminobutyric acid signaling pathway 77.77778 GABRA3
150 GO:0097623 potassium ion export across plasma membrane 77.77778 KCNE3
150 GO:1902260 negative regulation of delayed rectifier potassium channel activity 77.77778 KCNE3
150 GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization 77.77778 KCNE3
150 GO:0071804 cellular potassium ion transport 77.77778 KCNJ18, KCNE3
150 GO:0045988 negative regulation of striated muscle contraction 77.77778 KCNE3
150 R-HSA-5576892 Phase 0 - rapid depolarisation 77.77778 CACNA1S, SCN4A
150 R-HSA-419037 NCAM1 interactions 77.77778 CACNA1S
150 R-HSA-375165 NCAM signaling for neurite out-growth 77.77778 CACNA1S



Cluster #22

HPO Cluster Description
HP:0040083 22 Toe walking
HP:0008956 22 Proximal lower limb amyotrophy
HP:0008994 22 Proximal muscle weakness in lower limbs
HP:0003236 22 Elevated serum creatine kinase
HP:0001315 22 Reduced tendon reflexes
HP:0003307 22 Hyperlordosis
HP:0003306 22 Spinal rigidity
HP:0003691 22 Scapular winging
HP:0002747 22 Respiratory insufficiency due to muscle weakness
HP:0003458 22 EMG: myopathic abnormalities
HP:0008997 22 Proximal muscle weakness in upper limbs
HP:0002792 22 Reduced vital capacity
HP:0003805 22 Rimmed vacuoles
HP:0002987 22 Elbow flexion contracture
HP:0011807 22 Type 1 muscle fiber atrophy
HP:0008948 22 Proximal upper limb amyotrophy
HP:0004631 22 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0002486 22 Myotonia
Cluster Cell function Description Phenotype_coverage Genes
22 hsa05410 Hypertrophic cardiomyopathy (HCM) 94.44444 SGCD, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
22 hsa05414 Dilated cardiomyopathy 94.44444 SGCD, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
22 GO:0007517 muscle organ development 77.77778 MYF6, KLHL41, NEB, CAPN3, SGCD, TTN, SELENON, CHRNA1, EMD, FKTN, FHL1, DMD, CFL2, ITGA7, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, MYL2, LARGE1
22 GO:0006998 nuclear envelope organization 72.22222 EMD, TMEM43, LMNA, DMPK
22 GO:0006936 muscle contraction 72.22222 CHRNE, TNNT1, KLHL41, CLCN1, NEB, SGCD, TTN, CHRNA1, DMPK, TPM2, EMD, DMD, SCN4A, RYR1, MYH7, MYOT, ACTA1, CHRND, MYL2, CHRNB1, PABPN1, TPM3



Cluster #144

HPO Cluster Description
HP:0040083 144 Toe walking
HP:0002515 144 Waddling gait
HP:0008956 144 Proximal lower limb amyotrophy
HP:0008994 144 Proximal muscle weakness in lower limbs
HP:0003236 144 Elevated serum creatine kinase
HP:0003307 144 Hyperlordosis
HP:0003306 144 Spinal rigidity
HP:0003691 144 Scapular winging
HP:0008997 144 Proximal muscle weakness in upper limbs
HP:0002987 144 Elbow flexion contracture
HP:0011807 144 Type 1 muscle fiber atrophy
HP:0006785 144 Limb-girdle muscular dystrophy
HP:0008948 144 Proximal upper limb amyotrophy
HP:0001771 144 Achilles tendon contracture
HP:0004631 144 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0001678 144 Atrioventricular block
HP:0002486 144 Myotonia
Cluster Cell function Description Phenotype_coverage Genes
144 hsa05410 Hypertrophic cardiomyopathy (HCM) 94.11765 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
144 hsa05414 Dilated cardiomyopathy 94.11765 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
144 GO:0007084 mitotic nuclear envelope reassembly 88.23529 EMD, LMNA
144 R-HSA-2995410 Nuclear Envelope Reassembly 88.23529 LMNA, EMD
144 R-HSA-2995383 Initiation of Nuclear Envelope Reformation 88.23529 LMNA, EMD
144 R-HSA-4419969 Depolymerisation of the Nuclear Lamina 88.23529 LMNA, EMD
144 hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 82.35294 SGCD, SGCG, DAG1, EMD, ITGA7, SGCA, LMNA
144 R-HSA-2980766 Nuclear Envelope Breakdown 82.35294 LMNA, EMD
144 R-HSA-1221632 Meiotic synapsis 76.47059 LMNA, SYNE1, SYNE2
144 GO:0007517 muscle organ development 70.58824 MYF6, KLHL41, NEB, CAPN3, SGCD, SELENON, TTN, EMD, FKTN, FHL1, DMD, CFL2, ITGA7, RYR1, MYH7, SGCA, FOS, ACTA1, MYL2, SGCG, LARGE1
144 R-HSA-1500620 Meiosis 70.58824 LMNA, SYNE1, SYNE2



Cluster #112

HPO Cluster Description
HP:0001270 112 Motor delay
HP:0040083 112 Toe walking
HP:0002515 112 Waddling gait
HP:0008994 112 Proximal muscle weakness in lower limbs
HP:0003236 112 Elevated serum creatine kinase
HP:0003391 112 Gowers sign
HP:0003306 112 Spinal rigidity
HP:0003691 112 Scapular winging
HP:0003803 112 Type 1 muscle fiber predominance
HP:0003307 112 Hyperlordosis
HP:0001558 112 Decreased fetal movement
HP:0003805 112 Rimmed vacuoles
HP:0006785 112 Limb-girdle muscular dystrophy
HP:0001771 112 Achilles tendon contracture
Cluster Cell function Description Phenotype_coverage Genes
112 GO:0007517 muscle organ development 92.85714 MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, EMD, SGCB, FKTN, KLHL40, SPEG, FHL1, DMD, CFL2, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG, LARGE1
112 hsa05410 Hypertrophic cardiomyopathy (HCM) 85.71429 SGCB, SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
112 hsa05414 Dilated cardiomyopathy 85.71429 SGCB, SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
112 GO:0014706 striated muscle tissue development 78.57143 NEB, ACVR1, SELENON, ACTA1, CFL2, TTN, CHRNA1, CHRND, LMNA, MYF6, SGCG, EMD, KLHL41, LMOD3, RYR1, SGCB, KLHL40, FOS
112 GO:0003012 muscle system process 71.42857 CHRNE, TNNT1, LMNA, KLHL41, LMOD3, NEB, TTN, CHRNA1, TPM2, EMD, DMD, RYR1, MYH7, SGCA, MYOT, ACTA1, CHRND, BIN1, CHRNB1, PABPN1, TPM3
112 GO:0048747 muscle fiber development 71.42857 NEB, SELENON, ACTA1, TTN, DMD, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40



Cluster #13

HPO Cluster Description
HP:0001290 13 Generalized hypotonia
HP:0002515 13 Waddling gait
HP:0009046 13 Difficulty running
HP:0003236 13 Elevated serum creatine kinase
HP:0003391 13 Gowers sign
HP:0003557 13 Increased variability in muscle fiber diameter
HP:0003700 13 Generalized amyotrophy
HP:0003306 13 Spinal rigidity
HP:0003551 13 Difficulty climbing stairs
HP:0003687 13 Centrally nucleated skeletal muscle fibers
HP:0003803 13 Type 1 muscle fiber predominance
Cluster Cell function Description Phenotype_coverage Genes
13 GO:0048747 muscle fiber development 90.90909 NEB, SELENON, ACTA1, TTN, DMD, DYSF, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
13 GO:0007517 muscle organ development 81.81818 MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, CASQ1, EMD, SGCB, FKTN, KLHL40, SPEG, DMD, CFL2, FHL1, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG, LARGE1
13 GO:0042692 muscle cell differentiation 72.72727 TNNT1, MYPN, LMNA, MYF6, KLHL41, LMOD3, FLNC, NEB, CAPN3, SELENON, TTN, CASQ1, SGCB, KLHL40, ACVR1, SPEG, CFL2, RYR1, ACTA1, BIN1, CHRNB1



Cluster #56

HPO Cluster Description
HP:0009020 56 Exercise-induced muscle fatigue
HP:0003200 56 Ragged-red muscle fibers
HP:0003457 56 EMG abnormality
HP:0008180 56 Mildly elevated creatine kinase
HP:0011998 56 Postprandial hyperglycemia
HP:0012240 56 Increased intramyocellular lipid droplets
HP:0002203 56 Respiratory paralysis
HP:0003694 56 Late-onset proximal muscle weakness
HP:0003752 56 Episodic flaccid weakness
HP:0008153 56 Periodic hypokalemic paresis
HP:0012726 56 Episodic hypokalemia
Cluster Cell function Description Phenotype_coverage Genes
56 R-HSA-397014 Muscle contraction 90.90909 CACNA1S, TPM2, KCNE3, ACTA1, TPM3, SCN4A
56 R-HSA-5576893 Phase 2 - plateau phase 90.90909 CACNA1S, KCNE3
56 GO:0034765 regulation of ion transmembrane transport 81.81818 SCN4A, CACNA1S, KCNE3, CHCHD10, KCNJ18
56 GO:0071313 cellular response to caffeine 81.81818 CACNA1S
56 GO:0006936 muscle contraction 81.81818 ACTA1, TPM2, SCN4A, CACNA1S, KCNE3, TPM3
56 R-HSA-5576891 Cardiac conduction 81.81818 CACNA1S, SCN4A, KCNE3
56 GO:1903522 regulation of blood circulation 72.72727 KCNE3, DBH, CACNA1S
56 GO:0061337 cardiac conduction 72.72727 KCNE3, CACNA1S
56 R-HSA-5576892 Phase 0 - rapid depolarisation 72.72727 CACNA1S, SCN4A
56 R-HSA-419037 NCAM1 interactions 72.72727 CACNA1S
56 R-HSA-375165 NCAM signaling for neurite out-growth 72.72727 CACNA1S



Cluster #124

HPO Cluster Description
HP:0001270 124 Motor delay
HP:0002359 124 Frequent falls
HP:0002515 124 Waddling gait
HP:0008994 124 Proximal muscle weakness in lower limbs
HP:0009046 124 Difficulty running
HP:0040083 124 Toe walking
HP:0009027 124 Foot dorsiflexor weakness
HP:0001265 124 Hyporeflexia
HP:0001284 124 Areflexia
HP:0003236 124 Elevated serum creatine kinase
HP:0003391 124 Gowers sign
HP:0002421 124 Poor head control
HP:0001349 124 Facial diplegia
HP:0003691 124 Scapular winging
HP:0003458 124 EMG: myopathic abnormalities
HP:0001771 124 Achilles tendon contracture
HP:0003547 124 Shoulder girdle muscle weakness
HP:0003327 124 Axial muscle weakness
HP:0003803 124 Type 1 muscle fiber predominance
HP:0008997 124 Proximal muscle weakness in upper limbs
Cluster Cell function Description Phenotype_coverage Genes
124 GO:0007517 muscle organ development 90 MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, EMD, SGCB, FKTN, KLHL40, SPEG, FHL1, DMD, CFL2, RYR1, MYH7, SGCA, ACTA1, CHRND, SGCG, LARGE1
124 GO:0014706 striated muscle tissue development 75 NEB, SELENON, ACTA1, TTN, CFL2, CHRND, CHRNA1, LMNA, MYF6, SGCG, EMD, KLHL41, LMOD3, RYR1, SGCB, MYH7, KLHL40
124 GO:0048747 muscle fiber development 75 NEB, SELENON, ACTA1, TTN, DMD, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
124 GO:0042692 muscle cell differentiation 70 NEB, TNNT1, ACTA1, SELENON, SPEG, TTN, CFL2, MYPN, LMNA, BIN1, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40



Cluster #131

HPO Cluster Description
HP:0030200 131 Fatiguable weakness of proximal limb muscles
HP:0003738 131 Exercise-induced myalgia
HP:0003325 131 Limb-girdle muscle weakness
HP:0008954 131 Intrinsic hand muscle atrophy
HP:0008959 131 Distal upper limb muscle weakness
HP:0008963 131 Tibialis muscle weakness
HP:0009005 131 Weakness of the intrinsic hand muscles
HP:0031177 131 Finger flexor weakness
HP:0030198 131 Fatigable weakness of distal limb muscles
HP:0012515 131 Hip flexor weakness
Cluster Cell function Description Phenotype_coverage Genes
131 GO:0055002 striated muscle cell development 90 NEB, CFL2, DYSF, MYPN, CASQ1, LDB3, CAV3, MYF6, CHRNB1, LMOD3, KLHL41, FLNC



Cluster #48

HPO Cluster Description
HP:0001270 48 Motor delay
HP:0002355 48 Difficulty walking
HP:0001436 48 Abnormality of the foot musculature
HP:0001290 48 Generalized hypotonia
HP:0002515 48 Waddling gait
HP:0009046 48 Difficulty running
HP:0008981 48 Calf muscle hypertrophy
HP:0000602 48 Ophthalmoplegia
HP:0002058 48 Myopathic facies
HP:0003391 48 Gowers sign
HP:0003557 48 Increased variability in muscle fiber diameter
HP:0003306 48 Spinal rigidity
HP:0003551 48 Difficulty climbing stairs
HP:0003687 48 Centrally nucleated skeletal muscle fibers
HP:0003691 48 Scapular winging
HP:0003803 48 Type 1 muscle fiber predominance
HP:0002747 48 Respiratory insufficiency due to muscle weakness
HP:0003458 48 EMG: myopathic abnormalities
HP:0031108 48 Triceps weakness
Cluster Cell function Description Phenotype_coverage Genes
48 GO:0048747 muscle fiber development 89.47368 NEB, SELENON, ACTA1, TTN, MYL2, DYSF, MYF6, CHRNB1, STAC3, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
48 GO:0042692 muscle cell differentiation 78.94737 TNNT1, MYPN, LMNA, MYF6, STAC3, KLHL41, LMOD3, FLNC, NEB, CAPN3, SELENON, TTN, SYNE1, CASQ1, SGCB, KLHL40, ACVR1, SPEG, CFL2, RYR1, ACTA1, MYL2, BIN1, CHRNB1
48 GO:0007517 muscle organ development 78.94737 MYF6, STAC3, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, CASQ1, EMD, SGCB, KLHL40, SPEG, CFL2, FHL1, ITGA7, LAMA2, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, MYL2, SGCG
48 GO:0014706 striated muscle tissue development 73.68421 LMNA, MYF6, STAC3, KLHL41, LMOD3, NEB, SELENON, TTN, CHRNA1, CASQ1, EMD, SGCB, KLHL40, ACVR1, CFL2, RYR1, MYH7, FOS, ACTA1, CHRND, MYL2, SGCG
48 GO:0006936 muscle contraction 73.68421 CHRNE, TNNT1, STAC3, KLHL41, LMOD3, NEB, TTN, CHRNA1, TPM2, CASQ1, EMD, SCN4A, RYR1, MYH7, MYOT, ACTA1, CHRND, MYL2, DYSF, BIN1, CHRNB1, TPM3



Cluster #21

HPO Cluster Description
HP:0001436 21 Abnormality of the foot musculature
HP:0009027 21 Foot dorsiflexor weakness
HP:0031374 21 Ankle weakness
HP:0003458 21 EMG: myopathic abnormalities
HP:0030198 21 Fatigable weakness of distal limb muscles
HP:0009005 21 Weakness of the intrinsic hand muscles
HP:0003805 21 Rimmed vacuoles
HP:0003547 21 Shoulder girdle muscle weakness
HP:0009077 21 Weakness of long finger extensor muscles
Cluster Cell function Description Phenotype_coverage Genes
21 GO:0006941 striated muscle contraction 88.88889 TTN, CHRND, CHRNA1, SCN4A, CAV3, BIN1, CHRNB1, KLHL41, LMOD3, MYH7
21 GO:0014706 striated muscle tissue development 77.77778 NEB, ACTA1, TTN, CFL2, CHRND, CHRNA1, CAV3, LMNA, MYF6, EMD, KLHL41, LMOD3, MYH7
21 GO:0007517 muscle organ development 77.77778 NEB, ACTA1, TTN, CFL2, CHRND, CHRNA1, FHL1, CAV3, MYF6, EMD, KLHL41, LMOD3, MYH7



Cluster #47

HPO Cluster Description
HP:0001270 47 Motor delay
HP:0001436 47 Abnormality of the foot musculature
HP:0009027 47 Foot dorsiflexor weakness
HP:0002515 47 Waddling gait
HP:0001265 47 Hyporeflexia
HP:0009046 47 Difficulty running
HP:0001284 47 Areflexia
HP:0003236 47 Elevated serum creatine kinase
HP:0002375 47 Hypokinesia
HP:0002058 47 Myopathic facies
HP:0003391 47 Gowers sign
HP:0003557 47 Increased variability in muscle fiber diameter
HP:0002938 47 Lumbar hyperlordosis
HP:0003306 47 Spinal rigidity
HP:0001349 47 Facial diplegia
HP:0003691 47 Scapular winging
HP:0003803 47 Type 1 muscle fiber predominance
HP:0003458 47 EMG: myopathic abnormalities
HP:0003798 47 Nemaline bodies
HP:0009025 47 Increased connective tissue
HP:0002792 47 Reduced vital capacity
HP:0008963 47 Tibialis muscle weakness
HP:0040081 47 Abnormal circulating creatine kinase concentration
HP:0003555 47 Muscle fiber splitting
HP:0003805 47 Rimmed vacuoles
HP:0003730 47 EMG: myotonic runs
HP:0012548 47 Fatty replacement of skeletal muscle
HP:0100297 47 Increased endomysial connective tissue
HP:0003547 47 Shoulder girdle muscle weakness
HP:0003707 47 Calf muscle pseudohypertrophy
HP:0030007 47 EMG: positive sharp waves
HP:0100284 47 EMG: myotonic discharges
HP:0009063 47 Progressive distal muscle weakness
HP:0006467 47 Limited shoulder movement
Cluster Cell function Description Phenotype_coverage Genes
47 GO:0007517 muscle organ development 88.23529 MYOD1, MYF6, STAC3, KLHL41, LMOD3, NEB, CAPN3, TTN, SELENON, CHRNA1, EMD, SGCB, FKTN, KLHL40, CRYAB, SPEG, DMD, CFL2, FHL1, MYH14, CAV3, ITGA7, LAMA2, RYR1, COL6A3, MYH7, SGCA, FOS, ACTA1, CHRND, MYL2, SGCG, LARGE1
47 GO:0014706 striated muscle tissue development 73.52941 MYOD1, LMNA, MYF6, STAC3, KLHL41, LMOD3, NEB, TTN, SELENON, CHRNA1, EMD, SGCB, KLHL40, ACVR1, CFL2, CAV3, RYR1, MYH7, FOS, ACTA1, CHRND, MYL2, SGCG
47 GO:0006936 muscle contraction 73.52941 CHRNE, TNNT1, STAC3, KLHL41, LMOD3, NEB, TTN, CHRNA1, TPM2, EMD, DMD, MYH14, SCN4A, CAV3, RYR1, MYH7, SGCA, MYOT, ACTA1, CHRND, MYL2, BIN1, CHRNB1, CRYAB, PABPN1, TPM3



Cluster #113

HPO Cluster Description
HP:0007126 113 Proximal amyotrophy
HP:0030099 113 Reduced muscle fiber alpha dystroglycan
HP:0030197 113 Fatigable weakness of skeletal muscles
HP:0003741 113 Congenital muscular dystrophy
HP:0030234 113 Highly elevated creatine kinase
HP:0003797 113 Limb-girdle muscle atrophy
HP:0030046 113 Hypoglycosylation of alpha-dystroglycan
HP:0002350 113 Cerebellar cyst
Cluster Cell function Description Phenotype_coverage Genes
113 GO:0035269 protein O-linked mannosylation 87.5 POMT1, FKTN, CRPPA, LARGE1, FKRP, POMT2
113 hsa00514 Other types of O-glycan biosynthesis 75.0 POMT1, POMT2, POMGNT1
113 GO:0060049 regulation of protein glycosylation 75.0 FKTN, POMT1, POMT2
113 GO:0010560 positive regulation of glycoprotein biosynthetic process 75.0 POMT1, POMT2
113 R-HSA-3781865 Diseases of glycosylation 75.0 POMT2, POMT1, DAG1, LARGE1, POMGNT1
113 R-HSA-3906995 Diseases associated with O-glycosylation of proteins 75.0 POMT2, POMT1, DAG1, LARGE1, POMGNT1
113 R-HSA-5173105 O-linked glycosylation 75.0 POMT2, POMT1, DAG1, LARGE1, POMGNT1, POMK



Cluster #128

HPO Cluster Description
HP:0008800 128 Limited hip movement
HP:0008981 128 Calf muscle hypertrophy
HP:0003236 128 Elevated serum creatine kinase
HP:0011712 128 Right bundle branch block
HP:0003557 128 Increased variability in muscle fiber diameter
HP:0003691 128 Scapular winging
HP:0003458 128 EMG: myopathic abnormalities
HP:0003551 128 Difficulty climbing stairs
Cluster Cell function Description Phenotype_coverage Genes
128 GO:0048747 muscle fiber development 87.5 NEB, TTN, ACTA1, DMD, DYSF, KLHL41, RYR1
128 R-HSA-445355 Smooth Muscle Contraction 75.0 TPM3, TPM2, DYSF



Cluster #137

HPO Cluster Description
HP:0001270 137 Motor delay
HP:0002359 137 Frequent falls
HP:0001290 137 Generalized hypotonia
HP:0002515 137 Waddling gait
HP:0001265 137 Hyporeflexia
HP:0009046 137 Difficulty running
HP:0001284 137 Areflexia
HP:0003236 137 Elevated serum creatine kinase
HP:0003391 137 Gowers sign
HP:0003306 137 Spinal rigidity
HP:0003551 137 Difficulty climbing stairs
HP:0003691 137 Scapular winging
HP:0003803 137 Type 1 muscle fiber predominance
HP:0003458 137 EMG: myopathic abnormalities
HP:0003388 137 Easy fatigability
HP:0001349 137 Facial diplegia
Cluster Cell function Description Phenotype_coverage Genes
137 GO:0048747 muscle fiber development 87.50 NEB, SELENON, ACTA1, TTN, DMD, DYSF, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
137 GO:0007517 muscle organ development 81.25 MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, EMD, SGCB, FKTN, KLHL40, SPEG, DMD, CFL2, FHL1, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG, LARGE1
137 GO:0042692 muscle cell differentiation 75.00 NEB, CAPN3, ACVR1, TNNT1, ACTA1, SELENON, SPEG, CFL2, TTN, MYPN, LMNA, BIN1, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
137 GO:0006936 muscle contraction 75.00 NEB, MYOT, CHRNE, TNNT1, ACTA1, TTN, DMD, CHRNA1, TPM2, CHRND, SCN4A, BIN1, CHRNB1, EMD, KLHL41, LMOD3, RYR1, MYH7, TPM3



Cluster #93

HPO Cluster Description
HP:0001663 93 Ventricular fibrillation
HP:0009020 93 Exercise-induced muscle fatigue
HP:0003201 93 Rhabdomyolysis
HP:0003694 93 Late-onset proximal muscle weakness
HP:0012726 93 Episodic hypokalemia
HP:0002203 93 Respiratory paralysis
HP:0003752 93 Episodic flaccid weakness
Cluster Cell function Description Phenotype_coverage Genes
93 GO:0010107 potassium ion import 85.71429 SLC12A3, HCN4, KCNJ2, KCNJ18, KCNJ8, KCNH2
93 GO:1990573 potassium ion import across plasma membrane 85.71429 SLC12A3, HCN4, KCNJ2, KCNJ18, KCNJ8, KCNH2
93 GO:1902476 chloride transmembrane transport 85.71429 CLCNKB, SLC12A3, GABRA3
93 GO:0071804 cellular potassium ion transport 85.71429 KCNE1, KCND3, KCNE5, SLC12A3, HCN4, KCNJ2, AKAP9, KCNE3, KCNJ18, KCNJ8, KCNH2, KCNQ1
93 R-HSA-5576891 Cardiac conduction 85.71429 KCNH2, CACNA1C, KCNE1, CACNA1S, KCND3, SCN2B, SCN3B, RANGRF, KCNE3, SCN4A, AKAP9, KCNQ1, KCNJ2, CACNA2D1, CACNB2, KCNE5
93 R-HSA-397014 Muscle contraction 85.71429 KCNH2, CACNA1C, KCNE1, CACNA1S, KCND3, SCN2B, SCN3B, RANGRF, KCNE3, SCN4A, AKAP9, KCNQ1, KCNJ2, CACNA2D1, CACNB2, KCNE5
93 R-HSA-5576893 Phase 2 - plateau phase 85.71429 CACNA1C, KCNE1, CACNA1S, KCNE3, AKAP9, KCNQ1, CACNA2D1, CACNB2, KCNE5
93 GO:0098911 regulation of ventricular cardiac muscle cell action potential 71.42857 KCNE3, PKP2, CACNA1C
93 GO:1905031 regulation of membrane repolarization during cardiac muscle cell action potential 71.42857 KCNE3
93 GO:0086091 regulation of heart rate by cardiac conduction 71.42857 KCNE1, KCND3, PKP2, CACNA1C, KCNE5, HCN4, CACNA2D1, SCN2B, KCNJ2, CACNB2, AKAP9, KCNE3, KCNH2, KCNQ1, SCN3B
93 GO:0071435 potassium ion export 71.42857 KCNE1, KCND3, KCNE5, KCNE3, KCNH2, KCNQ1
93 GO:0071313 cellular response to caffeine 71.42857 CACNA1S
93 GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential 71.42857 KCNE1, KCND3, KCNE5, KCNE3, KCNJ8, KCNH2, KCNQ1
93 GO:1901387 positive regulation of voltage-gated calcium channel activity 71.42857 CACNB2, KCNE3, CACNA2D1
93 GO:0097623 potassium ion export across plasma membrane 71.42857 KCNE1, KCND3, KCNE5, KCNE3, KCNH2, KCNQ1
93 GO:0006936 muscle contraction 71.42857 KCNE1, KCND3, SLMAP, CACNA1C, PKP2, KCNE5, SCN4A, HCN4, CACNA1S, CACNA2D1, SCN2B, KCNJ2, CACNB2, KCNE3, SCN3B, KCNJ8, KCNH2, KCNQ1, GPD1L
93 GO:0070509 calcium ion import 71.42857 CACNB2, CACNA1S, CACNA1C, CACNA2D1
93 GO:1902260 negative regulation of delayed rectifier potassium channel activity 71.42857 KCNE1, KCNE3, KCNE5
93 GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization 71.42857 KCNE1, KCNE5, CACNA2D1, AKAP9, KCNE3, KCNH2, KCNQ1
93 GO:0045988 negative regulation of striated muscle contraction 71.42857 KCNE3
93 R-HSA-977443 GABA receptor activation 71.42857 KCNJ2, GABRA3
93 R-HSA-5576892 Phase 0 - rapid depolarisation 71.42857 CACNA1C, CACNA1S, SCN2B, SCN3B, RANGRF, SCN4A, CACNA2D1, CACNB2
93 R-HSA-419037 NCAM1 interactions 71.42857 CACNA1C, CACNA1S, CACNB2
93 R-HSA-375165 NCAM signaling for neurite out-growth 71.42857 CACNA1C, CACNA1S, CACNB2



Cluster #141

HPO Cluster Description
HP:0003201 141 Rhabdomyolysis
HP:0008331 141 Elevated creatine kinase after exercise
HP:0002153 141 Hyperkalemia
HP:0003552 141 Muscle stiffness
HP:0009045 141 Exercise-induced rhabdomyolysis
HP:0012899 141 Handgrip myotonia
HP:0008153 141 Periodic hypokalemic paresis
Cluster Cell function Description Phenotype_coverage Genes
141 GO:0071313 cellular response to caffeine 85.71429 CACNA1S, RYR1



Cluster #8

HPO Cluster Description
HP:0003198 8 Myopathy
HP:0001270 8 Motor delay
HP:0001290 8 Generalized hypotonia
HP:0002515 8 Waddling gait
HP:0003391 8 Gowers sign
HP:0003307 8 Hyperlordosis
HP:0002421 8 Poor head control
HP:0003306 8 Spinal rigidity
HP:0003273 8 Hip contracture
HP:0003691 8 Scapular winging
HP:0003803 8 Type 1 muscle fiber predominance
HP:0002747 8 Respiratory insufficiency due to muscle weakness
HP:0002987 8 Elbow flexion contracture
Cluster Cell function Description Phenotype_coverage Genes
8 GO:0048741 skeletal muscle fiber development 84.61538 SELENON, ACTA1, MYF6, KLHL41, LMOD3, RYR1, KLHL40
8 GO:0003012 muscle system process 76.92308 NEB, TNNT1, CHRNE, ACTA1, TTN, CHRNA1, MYL2, TPM2, CHRND, LMNA, BIN1, CHRNB1, EMD, KLHL41, LMOD3, RYR1, TPM3



Cluster #103

HPO Cluster Description
HP:0001436 103 Abnormality of the foot musculature
HP:0008956 103 Proximal lower limb amyotrophy
HP:0003236 103 Elevated serum creatine kinase
HP:0003307 103 Hyperlordosis
HP:0003691 103 Scapular winging
HP:0008963 103 Tibialis muscle weakness
HP:0003555 103 Muscle fiber splitting
HP:0003730 103 EMG: myotonic runs
HP:0006467 103 Limited shoulder movement
HP:0030007 103 EMG: positive sharp waves
HP:0100284 103 EMG: myotonic discharges
HP:0003805 103 Rimmed vacuoles
HP:0006785 103 Limb-girdle muscular dystrophy
Cluster Cell function Description Phenotype_coverage Genes
103 GO:0007517 muscle organ development 84.61538 SGCD, TTN, SELENON, FHL1, DMD, ACTA1, MYF6, SGCG, EMD, RYR1, LARGE1, MYH7, SGCA, FKTN
103 hsa05410 Hypertrophic cardiomyopathy (HCM) 76.92308 SGCD, SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
103 hsa05414 Dilated cardiomyopathy 76.92308 SGCD, SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7



Cluster #130

HPO Cluster Description
HP:0031374 130 Ankle weakness
HP:0001290 130 Generalized hypotonia
HP:0001265 130 Hyporeflexia
HP:0003557 130 Increased variability in muscle fiber diameter
HP:0003306 130 Spinal rigidity
HP:0003458 130 EMG: myopathic abnormalities
HP:0008180 130 Mildly elevated creatine kinase
HP:0001623 130 Breech presentation
HP:0001989 130 Fetal akinesia sequence
HP:0009058 130 Increased muscle lipid content
HP:0030192 130 Fatigable weakness of bulbar muscles
HP:0002111 130 Restrictive deficit on pulmonary function testing
HP:0003731 130 Quadriceps muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
130 GO:0030239 myofibril assembly 84.61538 NEB, CAPN3, ACTA1, TTN, CFL2, MYL2, MYPN, KLHL41, LMOD3
130 GO:0048741 skeletal muscle fiber development 84.61538 MYOD1, SELENON, ACTA1, LMOD3, KLHL41, RYR1, KLHL40
130 GO:0014706 striated muscle tissue development 76.92308 NEB, ACVR1, MYOD1, SELENON, ACTA1, TTN, CFL2, MYL2, LMNA, EMD, KLHL41, LMOD3, RYR1, MYH7, KLHL40, FOS
130 GO:0007517 muscle organ development 76.92308 NEB, CAPN3, MYOD1, SELENON, ACTA1, TTN, CFL2, FHL1, MYL2, ITGA7, EMD, KLHL41, LMOD3, RYR1, MYH7, KLHL40, FOS
130 GO:0030049 muscle filament sliding 76.92308 NEB, TTN, ACTA1, DES, MYL2, TPM2, MYH7, TPM3
130 R-HSA-390522 Striated Muscle Contraction 76.92308 DES, TTN, TPM2, ACTA1, TPM3, NEB, MYL2



Cluster #23

HPO Cluster Description
HP:0001270 23 Motor delay
HP:0002359 23 Frequent falls
HP:0002355 23 Difficulty walking
HP:0001290 23 Generalized hypotonia
HP:0002515 23 Waddling gait
HP:0001265 23 Hyporeflexia
HP:0009046 23 Difficulty running
HP:0001284 23 Areflexia
HP:0002375 23 Hypokinesia
HP:0002058 23 Myopathic facies
HP:0003391 23 Gowers sign
HP:0003557 23 Increased variability in muscle fiber diameter
HP:0001558 23 Decreased fetal movement
HP:0003306 23 Spinal rigidity
HP:0000467 23 Neck muscle weakness
HP:0001349 23 Facial diplegia
HP:0003551 23 Difficulty climbing stairs
HP:0003803 23 Type 1 muscle fiber predominance
HP:0003458 23 EMG: myopathic abnormalities
Cluster Cell function Description Phenotype_coverage Genes
23 GO:0048747 muscle fiber development 84.21053 NEB, MYOD1, SELENON, ACTA1, TTN, DYSF, MYF6, CHRNB1, STAC3, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
23 GO:0042692 muscle cell differentiation 78.94737 TNNT1, MYOD1, MYPN, LMNA, MYF6, STAC3, KLHL41, LMOD3, FLNC, NEB, CAPN3, SELENON, TTN, SGCB, KLHL40, ACVR1, SPEG, CFL2, RYR1, ACTA1, BIN1, CHRNB1
23 GO:0007517 muscle organ development 78.94737 MYOD1, MYF6, STAC3, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, EMD, SGCB, KLHL40, SPEG, CFL2, FHL1, LAMA2, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG
23 GO:0014706 striated muscle tissue development 73.68421 MYOD1, LMNA, MYF6, STAC3, KLHL41, LMOD3, NEB, SELENON, TTN, CHRNA1, EMD, SGCB, KLHL40, ACVR1, CFL2, RYR1, MYH7, FOS, ACTA1, CHRND, SGCG



Cluster #134

HPO Cluster Description
HP:0001270 134 Motor delay
HP:0002355 134 Difficulty walking
HP:0002515 134 Waddling gait
HP:0001265 134 Hyporeflexia
HP:0001284 134 Areflexia
HP:0003391 134 Gowers sign
HP:0003557 134 Increased variability in muscle fiber diameter
HP:0003306 134 Spinal rigidity
HP:0000467 134 Neck muscle weakness
HP:0003236 134 Elevated serum creatine kinase
HP:0002375 134 Hypokinesia
HP:0001558 134 Decreased fetal movement
HP:0001349 134 Facial diplegia
HP:0003803 134 Type 1 muscle fiber predominance
HP:0003798 134 Nemaline bodies
HP:0003403 134 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003458 134 EMG: myopathic abnormalities
HP:0003388 134 Easy fatigability
HP:0003805 134 Rimmed vacuoles
Cluster Cell function Description Phenotype_coverage Genes
134 GO:0006936 muscle contraction 84.21053 NEB, MYOT, CHRNE, TNNT1, ACTA1, TTN, DMD, CHRNA1, TPM2, CHRND, SCN4A, BIN1, CHRNB1, EMD, KLHL41, LMOD3, RYR1, MYH7, PABPN1, TPM3
134 GO:0007517 muscle organ development 78.94737 MYOD1, MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, EMD, SGCB, FKTN, KLHL40, SPEG, CFL2, FHL1, DMD, LAMA2, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG, LARGE1
134 GO:0014706 striated muscle tissue development 73.68421 NEB, ACVR1, MYOD1, SELENON, ACTA1, TTN, CFL2, CHRNA1, CHRND, LMNA, MYF6, SGCG, EMD, KLHL41, LMOD3, RYR1, SGCB, MYH7, KLHL40, FOS
134 GO:0048747 muscle fiber development 73.68421 NEB, MYOD1, SELENON, ACTA1, TTN, DMD, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, KLHL40



Cluster #97

HPO Cluster Description
HP:0003236 97 Elevated serum creatine kinase
HP:0003325 97 Limb-girdle muscle weakness
HP:0030234 97 Highly elevated creatine kinase
HP:0030046 97 Hypoglycosylation of alpha-dystroglycan
HP:0003707 97 Calf muscle pseudohypertrophy
HP:0002350 97 Cerebellar cyst
Cluster Cell function Description Phenotype_coverage Genes
97 GO:0097502 mannosylation 83.33333 POMT1, ALG2, FKRP, CRPPA, LARGE1, FKTN, POMT2



Cluster #117

HPO Cluster Description
HP:0001270 117 Motor delay
HP:0001265 117 Hyporeflexia
HP:0001324 117 Muscle weakness
HP:0001284 117 Areflexia
HP:0002375 117 Hypokinesia
HP:0001276 117 Hypertonia
HP:0001561 117 Polyhydramnios
HP:0000298 117 Mask-like facies
HP:0002804 117 Arthrogryposis multiplex congenita
HP:0002058 117 Myopathic facies
HP:0001558 117 Decreased fetal movement
HP:0003306 117 Spinal rigidity
HP:0001349 117 Facial diplegia
HP:0003803 117 Type 1 muscle fiber predominance
HP:0001623 117 Breech presentation
HP:0003798 117 Nemaline bodies
HP:0005855 117 Multiple prenatal fractures
HP:0001989 117 Fetal akinesia sequence
Cluster Cell function Description Phenotype_coverage Genes
117 GO:0048741 skeletal muscle fiber development 83.33333 MYOD1, ACTA1, SELENON, MYF6, STAC3, LMOD3, KLHL41, RYR1, KLHL40
117 GO:0030239 myofibril assembly 77.77778 NEB, CAPN3, TNNT1, ACTA1, TTN, CFL2, MYPN, KLHL41, LMOD3
117 GO:0030049 muscle filament sliding 77.77778 NEB, TNNT1, ACTA1, TTN, TPM2, TPM3
117 R-HSA-390522 Striated Muscle Contraction 77.77778 TTN, TPM2, ACTA1, TPM3, TNNT1, NEB
117 GO:0007015 actin filament organization 72.22222 NEB, ACTA1, TTN, CFL2, TPM2, BIN1, LMOD3, TPM3



Cluster #120

HPO Cluster Description
HP:0001270 120 Motor delay
HP:0002515 120 Waddling gait
HP:0001561 120 Polyhydramnios
HP:0001638 120 Cardiomyopathy
HP:0003306 120 Spinal rigidity
HP:0003327 120 Axial muscle weakness
HP:0000467 120 Neck muscle weakness
HP:0003403 120 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003691 120 Scapular winging
HP:0002747 120 Respiratory insufficiency due to muscle weakness
HP:0003458 120 EMG: myopathic abnormalities
HP:0008180 120 Mildly elevated creatine kinase
HP:0001623 120 Breech presentation
HP:0001989 120 Fetal akinesia sequence
HP:0002792 120 Reduced vital capacity
HP:0030192 120 Fatigable weakness of bulbar muscles
HP:0011807 120 Type 1 muscle fiber atrophy
HP:0012785 120 Flexion contracture of finger
Cluster Cell function Description Phenotype_coverage Genes
120 GO:0030049 muscle filament sliding 83.33333 NEB, TNNT1, ACTA1, TTN, DES, MYL2, TPM2, MYH7, TPM3
120 GO:0048747 muscle fiber development 83.33333 NEB, MYOD1, SELENON, ACTA1, TTN, MYL2, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, KLHL40
120 R-HSA-390522 Striated Muscle Contraction 83.33333 DES, TTN, TPM2, ACTA1, TPM3, TNNT1, NEB, MYL2
120 hsa05410 Hypertrophic cardiomyopathy (HCM) 77.77778 CACNA1S, MYL2, DES, TTN, ITGB4, TPM3, TPM2, EMD, ITGA7, LMNA, MYH7
120 hsa05414 Dilated cardiomyopathy 77.77778 CACNA1S, MYL2, DES, TTN, ITGB4, TPM3, TPM2, EMD, ITGA7, LMNA, MYH7
120 hsa04260 Cardiac muscle contraction 72.22222 CACNA1S, MYL2, TPM3, TPM2, MYH7
120 GO:0007517 muscle organ development 72.22222 MYOD1, MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, EMD, FLNB, KLHL40, CFL2, FHL1, ITGA7, RYR1, MYH7, FOS, ACTA1, CHRND, MYL2
120 GO:0014706 striated muscle tissue development 72.22222 NEB, ACVR1, MYOD1, SELENON, ACTA1, CFL2, MYL2, TTN, CHRND, CHRNA1, LMNA, MYF6, EMD, KLHL41, LMOD3, RYR1, FLNB, MYH7, KLHL40, FOS
120 GO:0030239 myofibril assembly 72.22222 NEB, CAPN3, TNNT1, ACTA1, TTN, CFL2, MYL2, MYPN, LMOD3, KLHL41



Cluster #148

HPO Cluster Description
HP:0002515 148 Waddling gait
HP:0003236 148 Elevated serum creatine kinase
HP:0001561 148 Polyhydramnios
HP:0003307 148 Hyperlordosis
HP:0001558 148 Decreased fetal movement
HP:0003306 148 Spinal rigidity
HP:0001349 148 Facial diplegia
HP:0003798 148 Nemaline bodies
HP:0011807 148 Type 1 muscle fiber atrophy
HP:0001239 148 Wrist flexion contracture
HP:0003691 148 Scapular winging
HP:0012548 148 Fatty replacement of skeletal muscle
Cluster Cell function Description Phenotype_coverage Genes
148 GO:0007517 muscle organ development 83.33333 KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, EMD, FLNB, FKTN, KLHL40, SPEG, DMD, CFL2, FHL1, ITGA7, RYR1, MYH7, FOS, ACTA1, MYL2, LARGE1
148 GO:0030049 muscle filament sliding 83.33333 NEB, ACTA1, TTN, DMD, MYL2, TPM2, MYH7, TPM3
148 GO:0048747 muscle fiber development 83.33333 NEB, SELENON, TTN, ACTA1, DMD, MYL2, KLHL41, LMOD3, RYR1, KLHL40
148 R-HSA-390522 Striated Muscle Contraction 83.33333 DMD, TTN, TPM2, ACTA1, TPM3, NEB, MYL2
148 GO:0014706 striated muscle tissue development 75.00000 NEB, ACVR1, SELENON, ACTA1, CFL2, MYL2, LMNA, EMD, KLHL41, LMOD3, RYR1, FLNB, KLHL40, FOS



Cluster #15

HPO Cluster Description
HP:0003198 15 Myopathy
HP:0001270 15 Motor delay
HP:0002355 15 Difficulty walking
HP:0001284 15 Areflexia
HP:0000602 15 Ophthalmoplegia
HP:0002804 15 Arthrogryposis multiplex congenita
HP:0002058 15 Myopathic facies
HP:0003701 15 Proximal muscle weakness
HP:0001558 15 Decreased fetal movement
HP:0001349 15 Facial diplegia
HP:0003691 15 Scapular winging
HP:0003803 15 Type 1 muscle fiber predominance
HP:0002747 15 Respiratory insufficiency due to muscle weakness
HP:0003458 15 EMG: myopathic abnormalities
HP:0003798 15 Nemaline bodies
HP:0005855 15 Multiple prenatal fractures
HP:0003388 15 Easy fatigability
Cluster Cell function Description Phenotype_coverage Genes
15 GO:0048741 skeletal muscle fiber development 82.35294 ACTA1, MYF6, STAC3, LMOD3, KLHL41, RYR1, KLHL40
15 GO:0030239 myofibril assembly 70.58824 NEB, TNNT1, ACTA1, TTN, CFL2, MYL2, MYPN, LMOD3, KLHL41
15 GO:0030049 muscle filament sliding 70.58824 NEB, TNNT1, ACTA1, TTN, MYL2, TPM2, MYH7, TPM3
15 R-HSA-397014 Muscle contraction 70.58824 TTN, TPM2, RYR1, ACTA1, TPM3, SCN4A, TNNT1, NEB, MYL2, KCNJ11
15 R-HSA-390522 Striated Muscle Contraction 70.58824 TTN, TPM2, ACTA1, TPM3, TNNT1, NEB, MYL2



Cluster #82

HPO Cluster Description
HP:0001270 82 Motor delay
HP:0008981 82 Calf muscle hypertrophy
HP:0003236 82 Elevated serum creatine kinase
HP:0002058 82 Myopathic facies
HP:0003557 82 Increased variability in muscle fiber diameter
HP:0003701 82 Proximal muscle weakness
HP:0003803 82 Type 1 muscle fiber predominance
HP:0003458 82 EMG: myopathic abnormalities
HP:0009025 82 Increased connective tissue
HP:0031237 82 Internally nucleated skeletal muscle fibers
HP:0011807 82 Type 1 muscle fiber atrophy
Cluster Cell function Description Phenotype_coverage Genes
82 hsa05410 Hypertrophic cardiomyopathy (HCM) 81.81818 SGCB, MYL2, TTN, LAMA2, TPM3, TPM2, EMD, ITGA7, DMD, LMNA, MYH7
82 hsa05414 Dilated cardiomyopathy 81.81818 SGCB, MYL2, TTN, LAMA2, TPM3, TPM2, EMD, ITGA7, DMD, LMNA, MYH7
82 GO:0007517 muscle organ development 81.81818 MYF6, STAC3, KLHL41, LMOD3, NEB, TTN, CHRNA1, SELENON, EMD, SGCB, FKTN, KLHL40, SPEG, DMD, CFL2, FHL1, ITGA7, LAMA2, RYR1, MYH7, ACTA1, CHRND, MYL2, LARGE1
82 GO:0030049 muscle filament sliding 72.72727 NEB, TNNT1, ACTA1, TTN, DMD, MYL2, TPM2, MYH7, TPM3
82 GO:0048741 skeletal muscle fiber development 72.72727 ACTA1, MYF6, STAC3, KLHL41, LMOD3, RYR1, KLHL40
82 GO:0014706 striated muscle tissue development 72.72727 NEB, ACTA1, TTN, CHRNA1, CFL2, CHRND, SELENON, MYL2, LMNA, MYF6, STAC3, EMD, KLHL41, LMOD3, SGCB, RYR1, MYH7, KLHL40
82 R-HSA-390522 Striated Muscle Contraction 72.72727 DMD, TTN, TPM2, ACTA1, TPM3, TNNT1, NEB, MYL2



Cluster #33

HPO Cluster Description
HP:0001270 33 Motor delay
HP:0002355 33 Difficulty walking
HP:0003236 33 Elevated serum creatine kinase
HP:0002375 33 Hypokinesia
HP:0001561 33 Polyhydramnios
HP:0002058 33 Myopathic facies
HP:0003701 33 Proximal muscle weakness
HP:0001558 33 Decreased fetal movement
HP:0001349 33 Facial diplegia
HP:0003691 33 Scapular winging
HP:0003803 33 Type 1 muscle fiber predominance
HP:0003458 33 EMG: myopathic abnormalities
HP:0003798 33 Nemaline bodies
HP:0005855 33 Multiple prenatal fractures
HP:0009025 33 Increased connective tissue
HP:0003547 33 Shoulder girdle muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
33 GO:0048741 skeletal muscle fiber development 81.25 MYOD1, ACTA1, MYF6, STAC3, LMOD3, KLHL41, RYR1, KLHL40
33 GO:0030049 muscle filament sliding 75.00 NEB, TNNT1, ACTA1, TTN, DMD, TPM2, MYH7, TPM3
33 GO:0030240 skeletal muscle thin filament assembly 75.00 LMOD3, ACTA1, TTN
33 R-HSA-390522 Striated Muscle Contraction 75.00 DMD, TTN, TPM2, ACTA1, TPM3, TNNT1, NEB



Cluster #45

HPO Cluster Description
HP:0001270 45 Motor delay
HP:0002355 45 Difficulty walking
HP:0001436 45 Abnormality of the foot musculature
HP:0009027 45 Foot dorsiflexor weakness
HP:0031374 45 Ankle weakness
HP:0001290 45 Generalized hypotonia
HP:0001265 45 Hyporeflexia
HP:0008994 45 Proximal muscle weakness in lower limbs
HP:0001644 45 Dilated cardiomyopathy
HP:0003557 45 Increased variability in muscle fiber diameter
HP:0001558 45 Decreased fetal movement
HP:0000467 45 Neck muscle weakness
HP:0001349 45 Facial diplegia
HP:0003687 45 Centrally nucleated skeletal muscle fibers
HP:0003691 45 Scapular winging
HP:0003803 45 Type 1 muscle fiber predominance
HP:0002747 45 Respiratory insufficiency due to muscle weakness
HP:0003458 45 EMG: myopathic abnormalities
HP:0008180 45 Mildly elevated creatine kinase
HP:0008997 45 Proximal muscle weakness in upper limbs
HP:0002792 45 Reduced vital capacity
HP:0008954 45 Intrinsic hand muscle atrophy
HP:0003805 45 Rimmed vacuoles
HP:0012548 45 Fatty replacement of skeletal muscle
HP:0003547 45 Shoulder girdle muscle weakness
HP:0009077 45 Weakness of long finger extensor muscles
Cluster Cell function Description Phenotype_coverage Genes
45 GO:0006936 muscle contraction 80.76923 CHRNE, TNNT1, CACNA1S, KLHL41, LMOD3, NEB, TTN, CHRNA1, TPM2, CASQ1, EMD, MYH14, SCN4A, RYR1, MYH7, MYOT, ACTA1, CHRND, MYL2, BIN1, CHRNB1, TAZ, PABPN1, TPM3



Cluster #118

HPO Cluster Description
HP:0001270 118 Motor delay
HP:0002355 118 Difficulty walking
HP:0001290 118 Generalized hypotonia
HP:0002515 118 Waddling gait
HP:0001265 118 Hyporeflexia
HP:0008956 118 Proximal lower limb amyotrophy
HP:0008994 118 Proximal muscle weakness in lower limbs
HP:0003236 118 Elevated serum creatine kinase
HP:0001644 118 Dilated cardiomyopathy
HP:0003557 118 Increased variability in muscle fiber diameter
HP:0001558 118 Decreased fetal movement
HP:0003306 118 Spinal rigidity
HP:0000467 118 Neck muscle weakness
HP:0001349 118 Facial diplegia
HP:0003691 118 Scapular winging
HP:0003803 118 Type 1 muscle fiber predominance
HP:0002747 118 Respiratory insufficiency due to muscle weakness
HP:0003458 118 EMG: myopathic abnormalities
HP:0008997 118 Proximal muscle weakness in upper limbs
HP:0003798 118 Nemaline bodies
HP:0001989 118 Fetal akinesia sequence
HP:0003388 118 Easy fatigability
HP:0003805 118 Rimmed vacuoles
HP:0002987 118 Elbow flexion contracture
HP:0011807 118 Type 1 muscle fiber atrophy
HP:0006785 118 Limb-girdle muscular dystrophy
HP:0008948 118 Proximal upper limb amyotrophy
HP:0001771 118 Achilles tendon contracture
HP:0004631 118 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0001678 118 Atrioventricular block
HP:0002486 118 Myotonia
Cluster Cell function Description Phenotype_coverage Genes
118 hsa05410 Hypertrophic cardiomyopathy (HCM) 80.64516 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
118 hsa05414 Dilated cardiomyopathy 80.64516 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
118 GO:0007517 muscle organ development 74.19355 MYOD1, MYF6, KLHL41, LMOD3, NEB, SGCD, CAPN3, SELENON, TTN, CHRNA1, EMD, FKTN, KLHL40, SPEG, FHL1, DMD, CFL2, ITGA7, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, MYL2, SGCG, LARGE1, TAZ
118 GO:0006936 muscle contraction 74.19355 CHRNE, TNNT1, KLHL41, LMOD3, CLCN1, NEB, SGCD, TTN, CHRNA1, DMPK, TPM2, EMD, DMD, SCN4A, RYR1, MYH7, MYOT, ACTA1, CHRND, MYL2, BIN1, CHRNB1, TAZ, PABPN1, TPM3
118 GO:0014706 striated muscle tissue development 70.96774 MYOD1, LMNA, MYF6, KLHL41, LMOD3, NEB, SGCD, SELENON, TTN, CHRNA1, EMD, KLHL40, ACVR1, CFL2, RYR1, MYH7, FOS, ACTA1, CHRND, MYL2, SGCG, TAZ



Cluster #5

HPO Cluster Description
HP:0001270 5 Motor delay
HP:0001290 5 Generalized hypotonia
HP:0009046 5 Difficulty running
HP:0008981 5 Calf muscle hypertrophy
HP:0003236 5 Elevated serum creatine kinase
HP:0003391 5 Gowers sign
HP:0001349 5 Facial diplegia
HP:0003803 5 Type 1 muscle fiber predominance
HP:0003388 5 Easy fatigability
HP:0003547 5 Shoulder girdle muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
5 GO:0007517 muscle organ development 80 NEB, SELENON, ACTA1, SPEG, TTN, DMD, CFL2, CHRNA1, CHRND, MYF6, SGCG, KLHL41, LMOD3, RYR1, SGCB, LARGE1, MYH7, SGCA, FKTN, KLHL40
5 GO:0048747 muscle fiber development 80 NEB, SELENON, ACTA1, TTN, DMD, DYSF, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
5 GO:0006936 muscle contraction 70 NEB, MYOT, CHRNE, TNNT1, ACTA1, TTN, DMD, CHRNA1, TPM2, CHRND, BIN1, CHRNB1, KLHL41, LMOD3, RYR1, MYH7, TPM3



Cluster #11

HPO Cluster Description
HP:0001270 11 Motor delay
HP:0002359 11 Frequent falls
HP:0040083 11 Toe walking
HP:0009027 11 Foot dorsiflexor weakness
HP:0002515 11 Waddling gait
HP:0009046 11 Difficulty running
HP:0003236 11 Elevated serum creatine kinase
HP:0003391 11 Gowers sign
HP:0003557 11 Increased variability in muscle fiber diameter
HP:0003307 11 Hyperlordosis
HP:0003306 11 Spinal rigidity
HP:0001349 11 Facial diplegia
HP:0003551 11 Difficulty climbing stairs
HP:0003691 11 Scapular winging
HP:0003803 11 Type 1 muscle fiber predominance
HP:0003458 11 EMG: myopathic abnormalities
HP:0006785 11 Limb-girdle muscular dystrophy
HP:0012548 11 Fatty replacement of skeletal muscle
HP:0001771 11 Achilles tendon contracture
HP:0003547 11 Shoulder girdle muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
11 GO:0007517 muscle organ development 80 MYF6, KLHL41, LMOD3, NEB, CAPN3, TTN, SELENON, CHRNA1, EMD, SGCB, FKTN, KLHL40, SPEG, FHL1, DMD, CFL2, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG, LARGE1
11 hsa05410 Hypertrophic cardiomyopathy (HCM) 70 SGCB, SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
11 hsa05414 Dilated cardiomyopathy 70 SGCB, SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
11 GO:0048747 muscle fiber development 70 NEB, TTN, ACTA1, SELENON, DMD, DYSF, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40



Cluster #17

HPO Cluster Description
HP:0001290 17 Generalized hypotonia
HP:0001284 17 Areflexia
HP:0010628 17 Facial palsy
HP:0003557 17 Increased variability in muscle fiber diameter
HP:0003306 17 Spinal rigidity
HP:0000467 17 Neck muscle weakness
HP:0002747 17 Respiratory insufficiency due to muscle weakness
HP:0003458 17 EMG: myopathic abnormalities
HP:0008180 17 Mildly elevated creatine kinase
HP:0003690 17 Limb muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
17 GO:0048741 skeletal muscle fiber development 80 SELENON, SIX1, ACTA1, MYF6, KLHL41, RYR1
17 GO:0014706 striated muscle tissue development 70 NEB, ACVR1, SELENON, SIX1, EYA1, TTN, ACTA1, CFL2, MYL2, LMNA, MYF6, EMD, KLHL41, RYR1, MYH7, FOS
17 GO:0030239 myofibril assembly 70 NEB, CAPN3, TNNT1, TTN, ACTA1, CFL2, MYL2, MYPN, KLHL41
17 GO:0006936 muscle contraction 70 NEB, TNNT1, MYOT, TTN, ACTA1, MYL2, TPM2, SCN4A, CACNA1S, BIN1, EMD, KLHL41, RYR1, MYH7, TPM3



Cluster #38

HPO Cluster Description
HP:0001270 38 Motor delay
HP:0002515 38 Waddling gait
HP:0001265 38 Hyporeflexia
HP:0001644 38 Dilated cardiomyopathy
HP:0001315 38 Reduced tendon reflexes
HP:0000602 38 Ophthalmoplegia
HP:0002058 38 Myopathic facies
HP:0003324 38 Generalized muscle weakness
HP:0003701 38 Proximal muscle weakness
HP:0002421 38 Poor head control
HP:0001558 38 Decreased fetal movement
HP:0003306 38 Spinal rigidity
HP:0000467 38 Neck muscle weakness
HP:0003687 38 Centrally nucleated skeletal muscle fibers
HP:0003691 38 Scapular winging
HP:0002747 38 Respiratory insufficiency due to muscle weakness
HP:0003458 38 EMG: myopathic abnormalities
HP:0008180 38 Mildly elevated creatine kinase
HP:0003388 38 Easy fatigability
HP:0001612 38 Weak cry
Cluster Cell function Description Phenotype_coverage Genes
38 GO:0006936 muscle contraction 80 CHRNE, TNNT1, CACNA1S, STAC3, KLHL41, NEB, TTN, CHRNA1, TPM2, CASQ1, EMD, SCN4A, RYR1, MYH7, MYOT, ACTA1, CHRND, MYL2, BIN1, CHRNB1, TAZ, TPM3
38 GO:0048741 skeletal muscle fiber development 75 SELENON, ACTA1, MYF6, STAC3, KLHL41, RYR1



Cluster #67

HPO Cluster Description
HP:0010508 67 Metatarsus valgus
HP:0000600 67 Abnormality of the pharynx
HP:0009743 67 Distichiasis
HP:0001621 67 Weak voice
HP:0003044 67 Shoulder flexion contracture
Cluster Cell function Description Phenotype_coverage Genes
67 R-HSA-3000157 Laminin interactions 80 HSPG2, COL4A1



Cluster #78

HPO Cluster Description
HP:0002359 78 Frequent falls
HP:0001436 78 Abnormality of the foot musculature
HP:0003236 78 Elevated serum creatine kinase
HP:0003551 78 Difficulty climbing stairs
HP:0003691 78 Scapular winging
HP:0003555 78 Muscle fiber splitting
HP:0031237 78 Internally nucleated skeletal muscle fibers
HP:0002987 78 Elbow flexion contracture
HP:0003730 78 EMG: myotonic runs
HP:0012548 78 Fatty replacement of skeletal muscle
HP:0100297 78 Increased endomysial connective tissue
HP:0003547 78 Shoulder girdle muscle weakness
HP:0030007 78 EMG: positive sharp waves
HP:0100284 78 EMG: myotonic discharges
HP:0006467 78 Limited shoulder movement
Cluster Cell function Description Phenotype_coverage Genes
78 GO:0007517 muscle organ development 80 CAPN3, TTN, ACTA1, DMD, SELENON, FHL1, MYL2, CHRND, CHRNA1, ITGA7, MYF6, SGCG, EMD, RYR1, COL6A3, LARGE1, MYH7, SGCA, FKTN



Cluster #89

HPO Cluster Description
HP:0003236 89 Elevated serum creatine kinase
HP:0003551 89 Difficulty climbing stairs
HP:0003691 89 Scapular winging
HP:0003730 89 EMG: myotonic runs
HP:0006785 89 Limb-girdle muscular dystrophy
HP:0100297 89 Increased endomysial connective tissue
HP:0025169 89 Left ventricular systolic dysfunction
HP:0003707 89 Calf muscle pseudohypertrophy
HP:0030007 89 EMG: positive sharp waves
HP:0100284 89 EMG: myotonic discharges
Cluster Cell function Description Phenotype_coverage Genes
89 hsa05410 Hypertrophic cardiomyopathy (HCM) 80 SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
89 hsa05414 Dilated cardiomyopathy 80 SGCG, DAG1, TTN, TPM3, TPM2, EMD, SGCA, DMD, LMNA, MYH7
89 GO:0007517 muscle organ development 80 TTN, ACTA1, DMD, CAV3, SGCG, RYR1, COL6A3, LARGE1, MYH7, SGCA, FKTN
89 hsa05416 Viral myocarditis 70 SGCG, DAG1, SGCA, DMD, MYH7



Cluster #98

HPO Cluster Description
HP:0001290 98 Generalized hypotonia
HP:0003200 98 Ragged-red muscle fibers
HP:0003457 98 EMG abnormality
HP:0003128 98 Lactic acidosis
HP:0003737 98 Mitochondrial myopathy
Cluster Cell function Description Phenotype_coverage Genes
98 GO:0032981 mitochondrial respiratory chain complex I assembly 80 ND6, NDUFA11, ND3, TIMMDC1, NDUFV1, NDUFAF1, NUBPL, ND2, NDUFS1, NDUFAF5, NDUFB10, NDUFS6, NDUFA6, NDUFS3, ND1, NDUFAF3, NDUFAF4, NDUFAF2, NDUFB3, NDUFS7, NDUFS4, NDUFV2, FOXRED1, TMEM126B, NDUFB11, ACAD9, ND4, NDUFS8, NDUFB9, ND5, NDUFA1
98 GO:0006120 mitochondrial electron transport, NADH to ubiquinone 80 ND6, NDUFA11, ND3, NDUFV1, NDUFAF1, ND2, NDUFS1, NDUFB10, NDUFS6, DLD, NDUFA6, NDUFS3, ND1, NDUFB3, NDUFS7, NDUFS4, NDUFV2, NDUFB11, ND4, NDUFS8, NDUFB9, ND5, NDUFA1
98 R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport 80 NDUFA1, NDUFB10, NDUFAF4, NDUFAF5, NDUFB3, ND3, NDUFB11, NUBPL, ATP8, NDUFS8, COX1, TIMMDC1, COX3, COX2, NDUFB9, ACAD9, TMEM126B, NDUFV1, NDUFV2, NDUFAF3, NDUFS3, NDUFAF1, DLD, ND2, ND4, NDUFS4, ND1, ND6, ND5, NDUFS6, NDUFA6, NDUFAF2, NDUFS7, NDUFS1, NDUFA11
98 R-HSA-6799198 Complex I biogenesis 80 NDUFA1, NDUFB10, NDUFAF4, NDUFAF5, NDUFB3, ND3, NDUFB11, NUBPL, NDUFS8, TIMMDC1, NDUFB9, ACAD9, TMEM126B, NDUFV1, NDUFV2, NDUFAF3, NDUFS3, NDUFAF1, ND2, ND4, NDUFS4, ND1, ND6, ND5, NDUFS6, NDUFA6, NDUFAF2, NDUFS7, NDUFS1, NDUFA11
98 R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 80 NDUFA1, NDUFB10, NDUFAF4, NDUFAF5, NDUFB3, ND3, NDUFB11, NUBPL, ATP8, NDUFS8, COX1, TIMMDC1, COX3, COX2, NDUFB9, ACAD9, TMEM126B, NDUFV1, NDUFV2, NDUFAF3, NDUFS3, NDUFAF1, ND2, ND4, NDUFS4, ND1, ND6, ND5, NDUFS6, NDUFA6, NDUFAF2, NDUFS7, NDUFS1, NDUFA11
98 R-HSA-611105 Respiratory electron transport 80 NDUFA1, NDUFB10, NDUFAF4, NDUFAF5, NDUFB3, ND3, NDUFB11, NUBPL, NDUFS8, COX1, TIMMDC1, COX3, COX2, NDUFB9, ACAD9, TMEM126B, NDUFV1, NDUFV2, NDUFAF3, NDUFS3, NDUFAF1, ND2, ND4, NDUFS4, ND1, ND6, ND5, NDUFS6, NDUFA6, NDUFAF2, NDUFS7, NDUFS1, NDUFA11



Cluster #127

HPO Cluster Description
HP:0040083 127 Toe walking
HP:0003236 127 Elevated serum creatine kinase
HP:0003307 127 Hyperlordosis
HP:0003306 127 Spinal rigidity
HP:0003273 127 Hip contracture
HP:0003691 127 Scapular winging
HP:0003555 127 Muscle fiber splitting
HP:0031237 127 Internally nucleated skeletal muscle fibers
HP:0002987 127 Elbow flexion contracture
HP:0006466 127 Ankle flexion contracture
HP:0012785 127 Flexion contracture of finger
HP:0001239 127 Wrist flexion contracture
HP:0003089 127 Hamstring contractures
HP:0003730 127 EMG: myotonic runs
HP:0100297 127 Increased endomysial connective tissue
Cluster Cell function Description Phenotype_coverage Genes
127 GO:0007517 muscle organ development 80 KLHL41, NEB, CAPN3, TTN, SELENON, EMD, FKTN, SPEG, FHL1, DMD, CFL2, ITGA7, RYR1, COL6A3, MYH7, SGCA, FOS, ACTA1, MYL2, SGCG, LARGE1



Cluster #133

HPO Cluster Description
HP:0003323 133 Progressive muscle weakness
HP:0003273 133 Hip contracture
HP:0001239 133 Wrist flexion contracture
HP:0007126 133 Proximal amyotrophy
HP:0003044 133 Shoulder flexion contracture
Cluster Cell function Description Phenotype_coverage Genes
133 hsa04512 ECM-receptor interaction 80 ITGA7, COL6A2, COL6A1, HSPG2
133 GO:0045932 negative regulation of muscle contraction 80 TNNT1, BIN1
133 GO:0030049 muscle filament sliding 80 TNNT1, ACTA1, DES, MYL2
133 GO:0043501 skeletal muscle adaptation 80 TNNT1, ACTA1
133 GO:0030239 myofibril assembly 80 TNNT1, ACTA1, MYL2
133 R-HSA-390522 Striated Muscle Contraction 80 DES, ACTA1, MYL2, TNNT1



Cluster #16

HPO Cluster Description
HP:0001270 16 Motor delay
HP:0002359 16 Frequent falls
HP:0040083 16 Toe walking
HP:0002355 16 Difficulty walking
HP:0009027 16 Foot dorsiflexor weakness
HP:0002515 16 Waddling gait
HP:0001265 16 Hyporeflexia
HP:0008994 16 Proximal muscle weakness in lower limbs
HP:0009046 16 Difficulty running
HP:0001284 16 Areflexia
HP:0003236 16 Elevated serum creatine kinase
HP:0003391 16 Gowers sign
HP:0003557 16 Increased variability in muscle fiber diameter
HP:0001558 16 Decreased fetal movement
HP:0003306 16 Spinal rigidity
HP:0001349 16 Facial diplegia
HP:0003551 16 Difficulty climbing stairs
HP:0003691 16 Scapular winging
HP:0003803 16 Type 1 muscle fiber predominance
HP:0003458 16 EMG: myopathic abnormalities
HP:0003805 16 Rimmed vacuoles
HP:0006785 16 Limb-girdle muscular dystrophy
HP:0012548 16 Fatty replacement of skeletal muscle
HP:0003547 16 Shoulder girdle muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
16 GO:0007517 muscle organ development 79.16667 MYF6, KLHL41, LMOD3, NEB, CAPN3, TTN, SELENON, CHRNA1, EMD, SGCB, FKTN, KLHL40, SPEG, FHL1, DMD, CFL2, RYR1, MYH7, SGCA, FOS, ACTA1, CHRND, SGCG, LARGE1
16 GO:0048747 muscle fiber development 70.83333 NEB, TTN, ACTA1, SELENON, DMD, DYSF, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40



Cluster #63

HPO Cluster Description
HP:0040083 63 Toe walking
HP:0009027 63 Foot dorsiflexor weakness
HP:0002515 63 Waddling gait
HP:0008956 63 Proximal lower limb amyotrophy
HP:0008994 63 Proximal muscle weakness in lower limbs
HP:0003236 63 Elevated serum creatine kinase
HP:0003307 63 Hyperlordosis
HP:0003306 63 Spinal rigidity
HP:0003691 63 Scapular winging
HP:0008997 63 Proximal muscle weakness in upper limbs
HP:0002792 63 Reduced vital capacity
HP:0008954 63 Intrinsic hand muscle atrophy
HP:0003805 63 Rimmed vacuoles
HP:0002987 63 Elbow flexion contracture
HP:0011807 63 Type 1 muscle fiber atrophy
HP:0006785 63 Limb-girdle muscular dystrophy
HP:0012548 63 Fatty replacement of skeletal muscle
HP:0008948 63 Proximal upper limb amyotrophy
HP:0001771 63 Achilles tendon contracture
HP:0004631 63 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0003547 63 Shoulder girdle muscle weakness
HP:0001678 63 Atrioventricular block
HP:0002486 63 Myotonia
HP:0009077 63 Weakness of long finger extensor muscles
Cluster Cell function Description Phenotype_coverage Genes
63 hsa05410 Hypertrophic cardiomyopathy (HCM) 79.16667 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7
63 hsa05414 Dilated cardiomyopathy 79.16667 SGCD, SGCG, DAG1, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, SGCA, DMD, LMNA, MYH7



Cluster #101

HPO Cluster Description
HP:0002828 101 Multiple joint contractures
HP:0001989 101 Fetal akinesia sequence
HP:0002047 101 Malignant hyperthermia
HP:0003700 101 Generalized amyotrophy
HP:0001558 101 Decreased fetal movement
HP:0003327 101 Axial muscle weakness
HP:0002747 101 Respiratory insufficiency due to muscle weakness
HP:0003325 101 Limb-girdle muscle weakness
HP:0003552 101 Muscle stiffness
Cluster Cell function Description Phenotype_coverage Genes
101 GO:0048741 skeletal muscle fiber development 77.77778 MYOD1, ACTA1, MYF6, STAC3, KLHL41, LMOD3, RYR1, KLHL40



Cluster #111

HPO Cluster Description
HP:0001265 111 Hyporeflexia
HP:0000597 111 Ophthalmoparesis
HP:0001324 111 Muscle weakness
HP:0003200 111 Ragged-red muscle fibers
HP:0001621 111 Weak voice
HP:0003737 111 Mitochondrial myopathy
HP:0003403 111 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003803 111 Type 1 muscle fiber predominance
HP:0003388 111 Easy fatigability
Cluster Cell function Description Phenotype_coverage Genes
111 GO:0035094 response to nicotine 77.77778 CHRNE, CHRND, CHRNA1, ND6, ND4, CHRNB1



Cluster #24

HPO Cluster Description
HP:0000014 24 Abnormality of the bladder
HP:0002127 24 Abnormal upper motor neuron morphology
HP:0002193 24 Pseudobulbar behavioral symptoms
HP:0007354 24 Amyotrophic lateral sclerosis
Cluster Cell function Description Phenotype_coverage Genes
24 hsa05014 Amyotrophic lateral sclerosis (ALS) 75 SOD1, ALS2, PRPH, NEFH



Cluster #43

HPO Cluster Description
HP:0001270 43 Motor delay
HP:0003236 43 Elevated serum creatine kinase
HP:0002375 43 Hypokinesia
HP:0001644 43 Dilated cardiomyopathy
HP:0002878 43 Respiratory failure
HP:0001638 43 Cardiomyopathy
HP:0002058 43 Myopathic facies
HP:0003557 43 Increased variability in muscle fiber diameter
HP:0003546 43 Exercise intolerance
HP:0001558 43 Decreased fetal movement
HP:0001349 43 Facial diplegia
HP:0003803 43 Type 1 muscle fiber predominance
HP:0003458 43 EMG: myopathic abnormalities
HP:0003798 43 Nemaline bodies
HP:0005855 43 Multiple prenatal fractures
HP:0009025 43 Increased connective tissue
HP:0002792 43 Reduced vital capacity
HP:0100297 43 Increased endomysial connective tissue
HP:0003547 43 Shoulder girdle muscle weakness
HP:0012515 43 Hip flexor weakness
Cluster Cell function Description Phenotype_coverage Genes
43 GO:0007519 skeletal muscle tissue development 75 MYOD1, ACTA1, CHRND, CFL2, CHRNA1, MYF6, STAC3, KLHL41, LMOD3, RYR1, KLHL40
43 GO:0048747 muscle fiber development 75 NEB, MYOD1, TTN, ACTA1, DMD, MYL2, MYF6, CHRNB1, STAC3, KLHL41, LMOD3, RYR1, SGCB, FLNC, KLHL40
43 GO:0030049 muscle filament sliding 70 NEB, TNNT1, ACTA1, TTN, DMD, MYL2, TPM2, MYH7, TPM3



Cluster #51

HPO Cluster Description
HP:0007149 51 Distal upper limb amyotrophy
HP:0003738 51 Exercise-induced myalgia
HP:0003547 51 Shoulder girdle muscle weakness
HP:0003731 51 Quadriceps muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
51 GO:0046033 AMP metabolic process 75 AK9, AMPD3, AMPD1, ADSS1



Cluster #57

HPO Cluster Description
HP:0001638 57 Cardiomyopathy
HP:0030198 57 Fatigable weakness of distal limb muscles
HP:0012722 57 Heart block
HP:0011808 57 Decreased patellar reflex
Cluster Cell function Description Phenotype_coverage Genes
57 hsa04260 Cardiac muscle contraction 75 COX2, COX3, COX1, TPM2, MYH7



Cluster #61

HPO Cluster Description
HP:0000544 61 External ophthalmoplegia
HP:0001621 61 Weak voice
HP:0001283 61 Bulbar palsy
HP:0008049 61 Abnormality of the extraocular muscles
Cluster Cell function Description Phenotype_coverage Genes
61 GO:0043097 pyrimidine nucleoside salvage 75 TYMP, TK2
61 R-HSA-73614 Pyrimidine salvage 75 TYMP, TK2
61 R-HSA-8956321 Nucleotide salvage 75 TYMP, TK2



Cluster #71

HPO Cluster Description
HP:0001436 71 Abnormality of the foot musculature
HP:0009027 71 Foot dorsiflexor weakness
HP:0031374 71 Ankle weakness
HP:0001638 71 Cardiomyopathy
HP:0003557 71 Increased variability in muscle fiber diameter
HP:0003403 71 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003458 71 EMG: myopathic abnormalities
HP:0002792 71 Reduced vital capacity
HP:0012548 71 Fatty replacement of skeletal muscle
HP:0100297 71 Increased endomysial connective tissue
HP:0003547 71 Shoulder girdle muscle weakness
HP:0012515 71 Hip flexor weakness
HP:0009077 71 Weakness of long finger extensor muscles
HP:0030007 71 EMG: positive sharp waves
HP:0100284 71 EMG: myotonic discharges
HP:0006467 71 Limited shoulder movement
Cluster Cell function Description Phenotype_coverage Genes
71 GO:0006936 muscle contraction 75 NEB, CHRNE, MYOT, TTN, CHRND, CHRNA1, ACTA1, TPM2, MYL2, SCN4A, MYH14, BIN1, CHRNB1, KLHL41, MYH7, SGCA, TPM3



Cluster #96

HPO Cluster Description
HP:0012548 96 Fatty replacement of skeletal muscle
HP:0012899 96 Handgrip myotonia
HP:0003715 96 Myofibrillar myopathy
HP:0010548 96 Percussion myotonia
Cluster Cell function Description Phenotype_coverage Genes
96 GO:0060713 labyrinthine layer morphogenesis 75 DNAJB6
96 GO:0006457 protein folding 75 VCP, DNAJB6
96 GO:0090084 negative regulation of inclusion body assembly 75 DNAJB6
96 GO:0034605 cellular response to heat 75 VCP, DNAJB6
96 GO:0060706 cell differentiation involved in embryonic placenta development 75 AKT1, DNAJB6
96 GO:0045109 intermediate filament organization 75 DNAJB6
96 GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process 75 VCP, AKT1, DNAJB6



Cluster #125

HPO Cluster Description
HP:0002093 125 Respiratory insufficiency
HP:0001315 125 Reduced tendon reflexes
HP:0012722 125 Heart block
HP:0002401 125 Stroke-like episode
Cluster Cell function Description Phenotype_coverage Genes
125 hsa04260 Cardiac muscle contraction 75 COX2, COX3, TPM2, COX1, TPM3



Cluster #138

HPO Cluster Description
HP:0001270 138 Motor delay
HP:0002515 138 Waddling gait
HP:0009046 138 Difficulty running
HP:0003560 138 Muscular dystrophy
HP:0003327 138 Axial muscle weakness
HP:0001319 138 Neonatal hypotonia
HP:0030200 138 Fatiguable weakness of proximal limb muscles
HP:0003551 138 Difficulty climbing stairs
HP:0003803 138 Type 1 muscle fiber predominance
HP:0003458 138 EMG: myopathic abnormalities
HP:0003798 138 Nemaline bodies
HP:0007126 138 Proximal amyotrophy
HP:0001771 138 Achilles tendon contracture
HP:0003741 138 Congenital muscular dystrophy
HP:0003797 138 Limb-girdle muscle atrophy
HP:0012899 138 Handgrip myotonia
Cluster Cell function Description Phenotype_coverage Genes
138 GO:0007517 muscle organ development 75 MYF6, KLHL41, LMOD3, NEB, CAPN3, SELENON, TTN, CHRNA1, CASQ1, EMD, FKTN, KLHL40, SPEG, CFL2, FHL1, LAMA2, RYR1, MYH7, SGCA, ACTA1, CHRND, SGCG



Cluster #114

HPO Cluster Description
HP:0008800 114 Limited hip movement
HP:0009027 114 Foot dorsiflexor weakness
HP:0002913 114 Myoglobinuria
HP:0003458 114 EMG: myopathic abnormalities
HP:0002792 114 Reduced vital capacity
HP:0008963 114 Tibialis muscle weakness
HP:0003555 114 Muscle fiber splitting
HP:0003805 114 Rimmed vacuoles
HP:0008978 114 Necrotizing myopathy
HP:0009045 114 Exercise-induced rhabdomyolysis
HP:0031237 114 Internally nucleated skeletal muscle fibers
Cluster Cell function Description Phenotype_coverage Genes
114 hsa05410 Hypertrophic cardiomyopathy (HCM) 72.72727 SGCB, CACNA1S, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, LMNA, MYH7
114 hsa05414 Dilated cardiomyopathy 72.72727 SGCB, CACNA1S, MYL2, TTN, TPM3, TPM2, EMD, ITGA7, LMNA, MYH7
114 GO:0048747 muscle fiber development 72.72727 NEB, TTN, ACTA1, MYL2, DYSF, CHRNB1, KLHL41, RYR1



Cluster #14

HPO Cluster Description
HP:0001270 14 Motor delay
HP:0002355 14 Difficulty walking
HP:0002515 14 Waddling gait
HP:0001265 14 Hyporeflexia
HP:0009046 14 Difficulty running
HP:0001284 14 Areflexia
HP:0008981 14 Calf muscle hypertrophy
HP:0003236 14 Elevated serum creatine kinase
HP:0003557 14 Increased variability in muscle fiber diameter
HP:0003701 14 Proximal muscle weakness
HP:0003551 14 Difficulty climbing stairs
HP:0003691 14 Scapular winging
HP:0003803 14 Type 1 muscle fiber predominance
HP:0003458 14 EMG: myopathic abnormalities
HP:0002792 14 Reduced vital capacity
HP:0003388 14 Easy fatigability
HP:0012548 14 Fatty replacement of skeletal muscle
HP:0003547 14 Shoulder girdle muscle weakness
Cluster Cell function Description Phenotype_coverage Genes
14 GO:0006936 muscle contraction 72.22222 NEB, MYOT, CHRNE, TNNT1, ACTA1, TTN, DMD, CHRNA1, TPM2, CHRND, SCN4A, MYL2, MYH14, BIN1, CHRNB1, KLHL41, LMOD3, RYR1, MYH7, TPM3
14 GO:0048747 muscle fiber development 72.22222 NEB, SELENON, ACTA1, TTN, DMD, DYSF, MYL2, MYF6, CHRNB1, KLHL41, LMOD3, RYR1, FLNC, KLHL40



Cluster #77

HPO Cluster Description
HP:0003236 77 Elevated serum creatine kinase
HP:0003458 77 EMG: myopathic abnormalities
HP:0030198 77 Fatigable weakness of distal limb muscles
HP:0003555 77 Muscle fiber splitting
HP:0003736 77 Autophagic vacuoles
HP:0009077 77 Weakness of long finger extensor muscles
HP:0012899 77 Handgrip myotonia
Cluster Cell function Description Phenotype_coverage Genes
77 GO:0007517 muscle organ development 71.42857 NEB, TTN, ACTA1, DMD, CFL2, KLHL41, LMOD3, LARGE1, MYH7, FKTN, CRYAB
77 GO:0006941 striated muscle contraction 71.42857 TTN, CHRND, DMD, CHRNA1, SCN4A, CHRNB1, KLHL41, LMOD3, MYH7



Cluster #86

HPO Cluster Description
HP:0003236 86 Elevated serum creatine kinase
HP:0001315 86 Reduced tendon reflexes
HP:0003307 86 Hyperlordosis
HP:0003551 86 Difficulty climbing stairs
HP:0012664 86 Reduced ejection fraction
HP:0005085 86 Limited knee flexion/extension
HP:0100748 86 Muscular edema
Cluster Cell function Description Phenotype_coverage Genes
86 GO:0003012 muscle system process 71.42857 TTN, ACTA1, DMD, TPM2, DYSF, SCN4A, LMNA, TPM3, MYH7, MYOT
86 GO:0048747 muscle fiber development 71.42857 SELENON, TTN, DMD, ACTA1, DYSF



Cluster #100

HPO Cluster Description
HP:0003712 100 Skeletal muscle hypertrophy
HP:0000597 100 Ophthalmoparesis
HP:0003457 100 EMG abnormality
HP:0002047 100 Malignant hyperthermia
HP:0002153 100 Hyperkalemia
HP:0003752 100 Episodic flaccid weakness
HP:0002486 100 Myotonia
Cluster Cell function Description Phenotype_coverage Genes
100 GO:0014819 regulation of skeletal muscle contraction 71.42857 SCN4A, DMPK



Cluster #140

HPO Cluster Description
HP:0001270 140 Motor delay
HP:0001638 140 Cardiomyopathy
HP:0100295 140 Muscle fiber atrophy
HP:0009025 140 Increased connective tissue
HP:0009058 140 Increased muscle lipid content
HP:0002111 140 Restrictive deficit on pulmonary function testing
HP:0003741 140 Congenital muscular dystrophy
Cluster Cell function Description Phenotype_coverage Genes
140 hsa05410 Hypertrophic cardiomyopathy (HCM) 71.42857 LAMA2, TTN, TPM3, TPM2, MYH7
140 hsa05414 Dilated cardiomyopathy 71.42857 LAMA2, TTN, TPM3, TPM2, MYH7
140 GO:0007517 muscle organ development 71.42857 NEB, ACTA1, SELENON, TTN, LAMA2, KLHL41, LMOD3, RYR1, MYH7, FKTN, KLHL40
140 GO:0030049 muscle filament sliding 71.42857 NEB, ACTA1, TTN, TPM2, MYH7, TPM3
140 GO:0014706 striated muscle tissue development 71.42857 NEB, ACTA1, SELENON, TTN, LMOD3, KLHL41, RYR1, MYH7, KLHL40
140 GO:0030240 skeletal muscle thin filament assembly 71.42857 LMOD3, ACTA1, TTN
140 GO:0048747 muscle fiber development 71.42857 NEB, ACTA1, SELENON, TTN, LMOD3, KLHL41, RYR1, KLHL40



Cluster #65

HPO Cluster Description
HP:0001270 65 Motor delay
HP:0040083 65 Toe walking
HP:0001436 65 Abnormality of the foot musculature
HP:0009027 65 Foot dorsiflexor weakness
HP:0002515 65 Waddling gait
HP:0001265 65 Hyporeflexia
HP:0008956 65 Proximal lower limb amyotrophy
HP:0008994 65 Proximal muscle weakness in lower limbs
HP:0001284 65 Areflexia
HP:0008981 65 Calf muscle hypertrophy
HP:0003236 65 Elevated serum creatine kinase
HP:0003391 65 Gowers sign
HP:0003307 65 Hyperlordosis
HP:0001558 65 Decreased fetal movement
HP:0003306 65 Spinal rigidity
HP:0001349 65 Facial diplegia
HP:0003691 65 Scapular winging
HP:0003803 65 Type 1 muscle fiber predominance
HP:0003458 65 EMG: myopathic abnormalities
HP:0008997 65 Proximal muscle weakness in upper limbs
HP:0003798 65 Nemaline bodies
HP:0002792 65 Reduced vital capacity
HP:0008954 65 Intrinsic hand muscle atrophy
HP:0008963 65 Tibialis muscle weakness
HP:0009005 65 Weakness of the intrinsic hand muscles
HP:0009073 65 Progressive proximal muscle weakness
HP:0040081 65 Abnormal circulating creatine kinase concentration
HP:0003555 65 Muscle fiber splitting
HP:0003805 65 Rimmed vacuoles
HP:0002987 65 Elbow flexion contracture
HP:0011807 65 Type 1 muscle fiber atrophy
HP:0003730 65 EMG: myotonic runs
HP:0006785 65 Limb-girdle muscular dystrophy
HP:0012548 65 Fatty replacement of skeletal muscle
HP:0100297 65 Increased endomysial connective tissue
HP:0008948 65 Proximal upper limb amyotrophy
HP:0001771 65 Achilles tendon contracture
HP:0004631 65 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0003547 65 Shoulder girdle muscle weakness
HP:0003731 65 Quadriceps muscle weakness
HP:0001678 65 Atrioventricular block
HP:0002486 65 Myotonia
HP:0009077 65 Weakness of long finger extensor muscles
HP:0030007 65 EMG: positive sharp waves
HP:0100284 65 EMG: myotonic discharges
HP:0009063 65 Progressive distal muscle weakness
HP:0006467 65 Limited shoulder movement
HP:0031108 65 Triceps weakness
Cluster Cell function Description Phenotype_coverage Genes
65 GO:0007517 muscle organ development 70.83333 MYF6, KLHL41, LMOD3, NEB, CAPN3, SGCD, TTN, SELENON, CHRNA1, EMD, SGCB, FKTN, KLHL40, CRYAB, SPEG, FHL1, DMD, CFL2, MYH14, CAV3, ITGA7, RYR1, COL6A3, MYH7, SGCA, FOS, ACTA1, CHRND, MYL2, SGCG, LARGE1



Cluster #132

HPO Cluster Description
HP:0008800 132 Limited hip movement
HP:0001436 132 Abnormality of the foot musculature
HP:0008963 132 Tibialis muscle weakness
HP:0003555 132 Muscle fiber splitting
HP:0003730 132 EMG: myotonic runs
HP:0012548 132 Fatty replacement of skeletal muscle
HP:0003547 132 Shoulder girdle muscle weakness
HP:0030007 132 EMG: positive sharp waves
HP:0100284 132 EMG: myotonic discharges
HP:0006467 132 Limited shoulder movement
Cluster Cell function Description Phenotype_coverage Genes
132 GO:0007517 muscle organ development 70 TTN, CHRND, CHRNA1, MYF6, SGCG, MYH7, SGCA



Cluster #4

HPO Cluster Description
HP:0001270 4 Motor delay
HP:0001290 4 Generalized hypotonia
HP:0002515 4 Waddling gait
HP:0001265 4 Hyporeflexia
HP:0001284 4 Areflexia
HP:0003391 4 Gowers sign
HP:0003324 4 Generalized muscle weakness
HP:0003701 4 Proximal muscle weakness
HP:0002421 4 Poor head control
HP:0001558 4 Decreased fetal movement
HP:0003306 4 Spinal rigidity
HP:0000467 4 Neck muscle weakness
HP:0003403 4 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003803 4 Type 1 muscle fiber predominance
HP:0003325 4 Limb-girdle muscle weakness
HP:0003388 4 Easy fatigability



Cluster #6

HPO Cluster Description
HP:0002355 6 Difficulty walking
HP:0009027 6 Foot dorsiflexor weakness
HP:0002515 6 Waddling gait
HP:0001284 6 Areflexia
HP:0008981 6 Calf muscle hypertrophy
HP:0003236 6 Elevated serum creatine kinase
HP:0001638 6 Cardiomyopathy
HP:0003391 6 Gowers sign
HP:0003557 6 Increased variability in muscle fiber diameter
HP:0003701 6 Proximal muscle weakness
HP:0000467 6 Neck muscle weakness
HP:0003551 6 Difficulty climbing stairs
HP:0003691 6 Scapular winging
HP:0003458 6 EMG: myopathic abnormalities
HP:0008997 6 Proximal muscle weakness in upper limbs
HP:0003805 6 Rimmed vacuoles
HP:0012548 6 Fatty replacement of skeletal muscle
HP:0003547 6 Shoulder girdle muscle weakness



Cluster #9

HPO Cluster Description
HP:0002355 9 Difficulty walking
HP:0001265 9 Hyporeflexia
HP:0002460 9 Distal muscle weakness
HP:0000508 9 Ptosis
HP:0003324 9 Generalized muscle weakness
HP:0003701 9 Proximal muscle weakness
HP:0002747 9 Respiratory insufficiency due to muscle weakness
HP:0001283 9 Bulbar palsy



Cluster #10

HPO Cluster Description
HP:0002359 10 Frequent falls
HP:0002515 10 Waddling gait
HP:0009046 10 Difficulty running
HP:0001284 10 Areflexia
HP:0002460 10 Distal muscle weakness
HP:0003236 10 Elevated serum creatine kinase
HP:0003391 10 Gowers sign
HP:0003403 10 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003551 10 Difficulty climbing stairs
HP:0003691 10 Scapular winging
HP:0003803 10 Type 1 muscle fiber predominance
HP:0003388 10 Easy fatigability



Cluster #12

HPO Cluster Description
HP:0003198 12 Myopathy
HP:0001270 12 Motor delay
HP:0002359 12 Frequent falls
HP:0002355 12 Difficulty walking
HP:0009027 12 Foot dorsiflexor weakness
HP:0002515 12 Waddling gait
HP:0009046 12 Difficulty running
HP:0008981 12 Calf muscle hypertrophy
HP:0003236 12 Elevated serum creatine kinase
HP:0003391 12 Gowers sign
HP:0003749 12 Pelvic girdle muscle weakness
HP:0003551 12 Difficulty climbing stairs
HP:0003388 12 Easy fatigability
HP:0003805 12 Rimmed vacuoles
HP:0001771 12 Achilles tendon contracture
HP:0003547 12 Shoulder girdle muscle weakness



Cluster #18

HPO Cluster Description
HP:0001270 18 Motor delay
HP:0002359 18 Frequent falls
HP:0002515 18 Waddling gait
HP:0008981 18 Calf muscle hypertrophy
HP:0003236 18 Elevated serum creatine kinase
HP:0001644 18 Dilated cardiomyopathy
HP:0003701 18 Proximal muscle weakness
HP:0002938 18 Lumbar hyperlordosis
HP:0003551 18 Difficulty climbing stairs
HP:0006785 18 Limb-girdle muscular dystrophy
HP:0025169 18 Left ventricular systolic dysfunction
HP:0030099 18 Reduced muscle fiber alpha dystroglycan
HP:0003707 18 Calf muscle pseudohypertrophy



Cluster #19

HPO Cluster Description
HP:0001270 19 Motor delay
HP:0002355 19 Difficulty walking
HP:0009027 19 Foot dorsiflexor weakness
HP:0030237 19 Hand muscle weakness
HP:0002515 19 Waddling gait
HP:0001265 19 Hyporeflexia
HP:0001284 19 Areflexia
HP:0002460 19 Distal muscle weakness
HP:0010628 19 Facial palsy
HP:0003391 19 Gowers sign
HP:0003701 19 Proximal muscle weakness
HP:0000467 19 Neck muscle weakness
HP:0003551 19 Difficulty climbing stairs
HP:0003691 19 Scapular winging
HP:0003803 19 Type 1 muscle fiber predominance
HP:0003458 19 EMG: myopathic abnormalities
HP:0008180 19 Mildly elevated creatine kinase
HP:0002792 19 Reduced vital capacity
HP:0003388 19 Easy fatigability
HP:0003805 19 Rimmed vacuoles
HP:0012548 19 Fatty replacement of skeletal muscle
HP:0003547 19 Shoulder girdle muscle weakness



Cluster #20

HPO Cluster Description
HP:0003198 20 Myopathy
HP:0002355 20 Difficulty walking
HP:0001436 20 Abnormality of the foot musculature
HP:0009027 20 Foot dorsiflexor weakness
HP:0030237 20 Hand muscle weakness
HP:0002515 20 Waddling gait
HP:0001265 20 Hyporeflexia
HP:0008956 20 Proximal lower limb amyotrophy
HP:0009046 20 Difficulty running
HP:0010628 20 Facial palsy
HP:0003391 20 Gowers sign
HP:0003701 20 Proximal muscle weakness
HP:0000467 20 Neck muscle weakness
HP:0003691 20 Scapular winging
HP:0003388 20 Easy fatigability
HP:0003547 20 Shoulder girdle muscle weakness
HP:0031108 20 Triceps weakness



Cluster #26

HPO Cluster Description
HP:0002355 26 Difficulty walking
HP:0003394 26 Muscle spasm
HP:0001290 26 Generalized hypotonia
HP:0003326 26 Myalgia
HP:0001771 26 Achilles tendon contracture
HP:0003797 26 Limb-girdle muscle atrophy



Cluster #27

HPO Cluster Description
HP:0003198 27 Myopathy
HP:0002355 27 Difficulty walking
HP:0001265 27 Hyporeflexia
HP:0003236 27 Elevated serum creatine kinase
HP:0001638 27 Cardiomyopathy
HP:0003546 27 Exercise intolerance
HP:0001349 27 Facial diplegia
HP:0002747 27 Respiratory insufficiency due to muscle weakness
HP:0003458 27 EMG: myopathic abnormalities
HP:0003798 27 Nemaline bodies
HP:0003552 27 Muscle stiffness
HP:0009073 27 Progressive proximal muscle weakness
HP:0040081 27 Abnormal circulating creatine kinase concentration
HP:0009063 27 Progressive distal muscle weakness



Cluster #28

HPO Cluster Description
HP:0009027 28 Foot dorsiflexor weakness
HP:0010628 28 Facial palsy
HP:0001638 28 Cardiomyopathy
HP:0009073 28 Progressive proximal muscle weakness
HP:0012548 28 Fatty replacement of skeletal muscle
HP:0003547 28 Shoulder girdle muscle weakness
HP:0009077 28 Weakness of long finger extensor muscles
HP:0030007 28 EMG: positive sharp waves
HP:0100284 28 EMG: myotonic discharges
HP:0006467 28 Limited shoulder movement



Cluster #30

HPO Cluster Description
HP:0009053 30 Distal lower limb muscle weakness
HP:0003693 30 Distal amyotrophy
HP:0002355 30 Difficulty walking
HP:0009027 30 Foot dorsiflexor weakness
HP:0001265 30 Hyporeflexia
HP:0001284 30 Areflexia



Cluster #31

HPO Cluster Description
HP:0002359 31 Frequent falls
HP:0001290 31 Generalized hypotonia
HP:0003557 31 Increased variability in muscle fiber diameter
HP:0008081 31 Pes valgus
HP:0002421 31 Poor head control
HP:0003700 31 Generalized amyotrophy
HP:0003306 31 Spinal rigidity
HP:0003458 31 EMG: myopathic abnormalities



Cluster #32

HPO Cluster Description
HP:0009027 32 Foot dorsiflexor weakness
HP:0002460 32 Distal muscle weakness
HP:0003236 32 Elevated serum creatine kinase
HP:0003557 32 Increased variability in muscle fiber diameter
HP:0003327 32 Axial muscle weakness
HP:0000467 32 Neck muscle weakness
HP:0003551 32 Difficulty climbing stairs
HP:0003458 32 EMG: myopathic abnormalities
HP:0003555 32 Muscle fiber splitting
HP:0100297 32 Increased endomysial connective tissue
HP:0003736 32 Autophagic vacuoles
HP:0012515 32 Hip flexor weakness



Cluster #34

HPO Cluster Description
HP:0003198 34 Myopathy
HP:0001265 34 Hyporeflexia
HP:0001284 34 Areflexia
HP:0003307 34 Hyperlordosis
HP:0001618 34 Dysphonia
HP:0003700 34 Generalized amyotrophy
HP:0003306 34 Spinal rigidity
HP:0000467 34 Neck muscle weakness
HP:0001349 34 Facial diplegia
HP:0003273 34 Hip contracture
HP:0003325 34 Limb-girdle muscle weakness



Cluster #35

HPO Cluster Description
HP:0002355 35 Difficulty walking
HP:0001284 35 Areflexia
HP:0001638 35 Cardiomyopathy
HP:0003391 35 Gowers sign
HP:0003458 35 EMG: myopathic abnormalities
HP:0009073 35 Progressive proximal muscle weakness
HP:0040081 35 Abnormal circulating creatine kinase concentration
HP:0030319 35 Weakness of facial musculature
HP:0003547 35 Shoulder girdle muscle weakness
HP:0012240 35 Increased intramyocellular lipid droplets



Cluster #36

HPO Cluster Description
HP:0000298 36 Mask-like facies
HP:0004326 36 Cachexia
HP:0000600 36 Abnormality of the pharynx
HP:0001621 36 Weak voice



Cluster #37

HPO Cluster Description
HP:0002015 37 Dysphagia
HP:0001290 37 Generalized hypotonia
HP:0000508 37 Ptosis
HP:0003200 37 Ragged-red muscle fibers
HP:0003546 37 Exercise intolerance
HP:0003701 37 Proximal muscle weakness
HP:0001558 37 Decreased fetal movement
HP:0001349 37 Facial diplegia
HP:0001712 37 Left ventricular hypertrophy
HP:0003803 37 Type 1 muscle fiber predominance
HP:0000544 37 External ophthalmoplegia
HP:0003388 37 Easy fatigability
HP:0003737 37 Mitochondrial myopathy
HP:0003547 37 Shoulder girdle muscle weakness



Cluster #39

HPO Cluster Description
HP:0001436 39 Abnormality of the foot musculature
HP:0002515 39 Waddling gait
HP:0008956 39 Proximal lower limb amyotrophy
HP:0009046 39 Difficulty running
HP:0003236 39 Elevated serum creatine kinase
HP:0000508 39 Ptosis
HP:0010628 39 Facial palsy
HP:0001315 39 Reduced tendon reflexes
HP:0001638 39 Cardiomyopathy
HP:0003391 39 Gowers sign
HP:0003557 39 Increased variability in muscle fiber diameter
HP:0003701 39 Proximal muscle weakness
HP:0003327 39 Axial muscle weakness
HP:0003403 39 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003691 39 Scapular winging
HP:0003803 39 Type 1 muscle fiber predominance
HP:0003458 39 EMG: myopathic abnormalities
HP:0003388 39 Easy fatigability
HP:0008963 39 Tibialis muscle weakness
HP:0003555 39 Muscle fiber splitting
HP:0001612 39 Weak cry
HP:0100297 39 Increased endomysial connective tissue
HP:0003547 39 Shoulder girdle muscle weakness
HP:0012515 39 Hip flexor weakness
HP:0006467 39 Limited shoulder movement



Cluster #40

HPO Cluster Description
HP:0002359 40 Frequent falls
HP:0040083 40 Toe walking
HP:0002355 40 Difficulty walking
HP:0008981 40 Calf muscle hypertrophy
HP:0003749 40 Pelvic girdle muscle weakness
HP:0002540 40 Inability to walk
HP:0003551 40 Difficulty climbing stairs
HP:0003458 40 EMG: myopathic abnormalities
HP:0008180 40 Mildly elevated creatine kinase
HP:0009073 40 Progressive proximal muscle weakness
HP:0007126 40 Proximal amyotrophy
HP:0025169 40 Left ventricular systolic dysfunction
HP:0030099 40 Reduced muscle fiber alpha dystroglycan
HP:0001771 40 Achilles tendon contracture
HP:0003547 40 Shoulder girdle muscle weakness



Cluster #42

HPO Cluster Description
HP:0040083 42 Toe walking
HP:0002355 42 Difficulty walking
HP:0009027 42 Foot dorsiflexor weakness
HP:0001290 42 Generalized hypotonia
HP:0002460 42 Distal muscle weakness
HP:0002878 42 Respiratory failure
HP:0003551 42 Difficulty climbing stairs
HP:0003698 42 Difficulty standing
HP:0003547 42 Shoulder girdle muscle weakness



Cluster #44

HPO Cluster Description
HP:0003551 44 Difficulty climbing stairs
HP:0003555 44 Muscle fiber splitting
HP:0003805 44 Rimmed vacuoles
HP:0003736 44 Autophagic vacuoles
HP:0012899 44 Handgrip myotonia
HP:0003715 44 Myofibrillar myopathy



Cluster #46

HPO Cluster Description
HP:0001290 46 Generalized hypotonia
HP:0001644 46 Dilated cardiomyopathy
HP:0003326 46 Myalgia
HP:0003324 46 Generalized muscle weakness
HP:0008331 46 Elevated creatine kinase after exercise
HP:0003458 46 EMG: myopathic abnormalities



Cluster #49

HPO Cluster Description
HP:0002015 49 Dysphagia
HP:0002359 49 Frequent falls
HP:0008981 49 Calf muscle hypertrophy
HP:0003749 49 Pelvic girdle muscle weakness
HP:0003324 49 Generalized muscle weakness
HP:0003551 49 Difficulty climbing stairs
HP:0002522 49 Areflexia of lower limbs
HP:0002747 49 Respiratory insufficiency due to muscle weakness
HP:0003722 49 Neck flexor weakness
HP:0030196 49 Fatigable weakness of respiratory muscles
HP:0006957 49 Loss of ability to walk
HP:0030319 49 Weakness of facial musculature



Cluster #50

HPO Cluster Description
HP:0001270 50 Motor delay
HP:0002355 50 Difficulty walking
HP:0002515 50 Waddling gait
HP:0008994 50 Proximal muscle weakness in lower limbs
HP:0009046 50 Difficulty running
HP:0008981 50 Calf muscle hypertrophy
HP:0003236 50 Elevated serum creatine kinase
HP:0001644 50 Dilated cardiomyopathy
HP:0001315 50 Reduced tendon reflexes
HP:0003391 50 Gowers sign
HP:0003557 50 Increased variability in muscle fiber diameter
HP:0003306 50 Spinal rigidity
HP:0003551 50 Difficulty climbing stairs
HP:0003691 50 Scapular winging
HP:0003803 50 Type 1 muscle fiber predominance
HP:0002747 50 Respiratory insufficiency due to muscle weakness
HP:0008997 50 Proximal muscle weakness in upper limbs
HP:0008963 50 Tibialis muscle weakness
HP:0003555 50 Muscle fiber splitting
HP:0002987 50 Elbow flexion contracture
HP:0006466 50 Ankle flexion contracture
HP:0012785 50 Flexion contracture of finger
HP:0001239 50 Wrist flexion contracture
HP:0003089 50 Hamstring contractures
HP:0003730 50 EMG: myotonic runs
HP:0006785 50 Limb-girdle muscular dystrophy
HP:0100297 50 Increased endomysial connective tissue
HP:0025169 50 Left ventricular systolic dysfunction
HP:0001771 50 Achilles tendon contracture



Cluster #52

HPO Cluster Description
HP:0001270 52 Motor delay
HP:0002355 52 Difficulty walking
HP:0002515 52 Waddling gait
HP:0001265 52 Hyporeflexia
HP:0008981 52 Calf muscle hypertrophy
HP:0003236 52 Elevated serum creatine kinase
HP:0001638 52 Cardiomyopathy
HP:0003391 52 Gowers sign
HP:0003557 52 Increased variability in muscle fiber diameter
HP:0003324 52 Generalized muscle weakness
HP:0001558 52 Decreased fetal movement
HP:0003306 52 Spinal rigidity
HP:0000467 52 Neck muscle weakness
HP:0001349 52 Facial diplegia
HP:0003551 52 Difficulty climbing stairs
HP:0003691 52 Scapular winging
HP:0003803 52 Type 1 muscle fiber predominance
HP:0008997 52 Proximal muscle weakness in upper limbs
HP:0003325 52 Limb-girdle muscle weakness
HP:0030198 52 Fatigable weakness of distal limb muscles
HP:0003388 52 Easy fatigability
HP:0008954 52 Intrinsic hand muscle atrophy
HP:0009005 52 Weakness of the intrinsic hand muscles
HP:0009073 52 Progressive proximal muscle weakness
HP:0040081 52 Abnormal circulating creatine kinase concentration



Cluster #53

HPO Cluster Description
HP:0001270 53 Motor delay
HP:0002359 53 Frequent falls
HP:0040083 53 Toe walking
HP:0002355 53 Difficulty walking
HP:0001290 53 Generalized hypotonia
HP:0002515 53 Waddling gait
HP:0001265 53 Hyporeflexia
HP:0001284 53 Areflexia
HP:0008981 53 Calf muscle hypertrophy
HP:0000602 53 Ophthalmoplegia
HP:0002878 53 Respiratory failure
HP:0003557 53 Increased variability in muscle fiber diameter
HP:0003324 53 Generalized muscle weakness
HP:0003701 53 Proximal muscle weakness
HP:0001558 53 Decreased fetal movement
HP:0003306 53 Spinal rigidity
HP:0003551 53 Difficulty climbing stairs
HP:0003691 53 Scapular winging
HP:0003803 53 Type 1 muscle fiber predominance
HP:0002747 53 Respiratory insufficiency due to muscle weakness
HP:0003458 53 EMG: myopathic abnormalities
HP:0003388 53 Easy fatigability
HP:0008954 53 Intrinsic hand muscle atrophy
HP:0009073 53 Progressive proximal muscle weakness
HP:0002987 53 Elbow flexion contracture
HP:0012548 53 Fatty replacement of skeletal muscle
HP:0001771 53 Achilles tendon contracture



Cluster #54

HPO Cluster Description
HP:0009053 54 Distal lower limb muscle weakness
HP:0002355 54 Difficulty walking
HP:0009027 54 Foot dorsiflexor weakness
HP:0001265 54 Hyporeflexia
HP:0008994 54 Proximal muscle weakness in lower limbs
HP:0009046 54 Difficulty running
HP:0001638 54 Cardiomyopathy
HP:0003700 54 Generalized amyotrophy
HP:0003306 54 Spinal rigidity
HP:0002540 54 Inability to walk
HP:0003551 54 Difficulty climbing stairs
HP:0002747 54 Respiratory insufficiency due to muscle weakness
HP:0008180 54 Mildly elevated creatine kinase
HP:0008959 54 Distal upper limb muscle weakness
HP:0009073 54 Progressive proximal muscle weakness
HP:0030319 54 Weakness of facial musculature



Cluster #55

HPO Cluster Description
HP:0040083 55 Toe walking
HP:0002355 55 Difficulty walking
HP:0003560 55 Muscular dystrophy
HP:0003691 55 Scapular winging
HP:0003458 55 EMG: myopathic abnormalities
HP:0009005 55 Weakness of the intrinsic hand muscles
HP:0009073 55 Progressive proximal muscle weakness
HP:0002987 55 Elbow flexion contracture
HP:0006466 55 Ankle flexion contracture
HP:0012785 55 Flexion contracture of finger
HP:0006785 55 Limb-girdle muscular dystrophy
HP:0012548 55 Fatty replacement of skeletal muscle
HP:0009063 55 Progressive distal muscle weakness



Cluster #58

HPO Cluster Description
HP:0001270 58 Motor delay
HP:0002355 58 Difficulty walking
HP:0009027 58 Foot dorsiflexor weakness
HP:0001265 58 Hyporeflexia
HP:0001284 58 Areflexia
HP:0009055 58 Generalized limb muscle atrophy
HP:0000467 58 Neck muscle weakness
HP:0001349 58 Facial diplegia
HP:0003691 58 Scapular winging
HP:0002380 58 Fasciculations



Cluster #59

HPO Cluster Description
HP:0002015 59 Dysphagia
HP:0001265 59 Hyporeflexia
HP:0002804 59 Arthrogryposis multiplex congenita
HP:0003749 59 Pelvic girdle muscle weakness
HP:0000590 59 Progressive external ophthalmoplegia
HP:0003546 59 Exercise intolerance
HP:0003324 59 Generalized muscle weakness
HP:0001488 59 Bilateral ptosis
HP:0002540 59 Inability to walk
HP:0006957 59 Loss of ability to walk
HP:0001771 59 Achilles tendon contracture
HP:0030319 59 Weakness of facial musculature



Cluster #62

HPO Cluster Description
HP:0003198 62 Myopathy
HP:0002359 62 Frequent falls
HP:0040083 62 Toe walking
HP:0002355 62 Difficulty walking
HP:0003394 62 Muscle spasm
HP:0001290 62 Generalized hypotonia
HP:0001265 62 Hyporeflexia
HP:0009046 62 Difficulty running
HP:0003236 62 Elevated serum creatine kinase
HP:0001276 62 Hypertonia
HP:0003326 62 Myalgia
HP:0000590 62 Progressive external ophthalmoplegia
HP:0003457 62 EMG abnormality
HP:0003546 62 Exercise intolerance
HP:0100749 62 Chest pain
HP:0001349 62 Facial diplegia
HP:0003403 62 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003551 62 Difficulty climbing stairs
HP:0003458 62 EMG: myopathic abnormalities
HP:0003738 62 Exercise-induced myalgia
HP:0003388 62 Easy fatigability
HP:0003731 62 Quadriceps muscle weakness
HP:0002486 62 Myotonia
HP:0031108 62 Triceps weakness



Cluster #64

HPO Cluster Description
HP:0003202 64 Skeletal muscle atrophy
HP:0001265 64 Hyporeflexia
HP:0001284 64 Areflexia
HP:0010508 64 Metatarsus valgus
HP:0001618 64 Dysphonia
HP:0040081 64 Abnormal circulating creatine kinase concentration



Cluster #66

HPO Cluster Description
HP:0003198 66 Myopathy
HP:0001288 66 Gait disturbance
HP:0002355 66 Difficulty walking
HP:0002515 66 Waddling gait
HP:0001265 66 Hyporeflexia
HP:0001284 66 Areflexia
HP:0003236 66 Elevated serum creatine kinase
HP:0003712 66 Skeletal muscle hypertrophy
HP:0000597 66 Ophthalmoparesis
HP:0000298 66 Mask-like facies
HP:0003326 66 Myalgia
HP:0001638 66 Cardiomyopathy
HP:0003391 66 Gowers sign
HP:0003557 66 Increased variability in muscle fiber diameter
HP:0003307 66 Hyperlordosis
HP:0000590 66 Progressive external ophthalmoplegia
HP:0003200 66 Ragged-red muscle fibers
HP:0003457 66 EMG abnormality
HP:0003546 66 Exercise intolerance
HP:0003701 66 Proximal muscle weakness
HP:0002421 66 Poor head control
HP:0003306 66 Spinal rigidity
HP:0000467 66 Neck muscle weakness
HP:0003403 66 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003691 66 Scapular winging
HP:0003803 66 Type 1 muscle fiber predominance
HP:0003325 66 Limb-girdle muscle weakness
HP:0003388 66 Easy fatigability
HP:0009073 66 Progressive proximal muscle weakness
HP:0040081 66 Abnormal circulating creatine kinase concentration
HP:0030319 66 Weakness of facial musculature
HP:0003737 66 Mitochondrial myopathy
HP:0002486 66 Myotonia



Cluster #68

HPO Cluster Description
HP:0003394 68 Muscle spasm
HP:0008981 68 Calf muscle hypertrophy
HP:0003236 68 Elevated serum creatine kinase
HP:0001638 68 Cardiomyopathy
HP:0002913 68 Myoglobinuria
HP:0003557 68 Increased variability in muscle fiber diameter
HP:0003738 68 Exercise-induced myalgia
HP:0003089 68 Hamstring contractures
HP:0003730 68 EMG: myotonic runs



Cluster #69

HPO Cluster Description
HP:0003326 69 Myalgia
HP:0003749 69 Pelvic girdle muscle weakness
HP:0007126 69 Proximal amyotrophy
HP:0003756 69 Skeletal myopathy
HP:0012507 69 Weakness of orbicularis oculi muscle
HP:0030051 69 Tip-toe gait



Cluster #70

HPO Cluster Description
HP:0002015 70 Dysphagia
HP:0003198 70 Myopathy
HP:0001288 70 Gait disturbance
HP:0003202 70 Skeletal muscle atrophy
HP:0001265 70 Hyporeflexia
HP:0001324 70 Muscle weakness
HP:0001284 70 Areflexia
HP:0002460 70 Distal muscle weakness
HP:0008981 70 Calf muscle hypertrophy
HP:0003236 70 Elevated serum creatine kinase
HP:0000508 70 Ptosis
HP:0000597 70 Ophthalmoparesis
HP:0003560 70 Muscular dystrophy
HP:0000298 70 Mask-like facies
HP:0010628 70 Facial palsy
HP:0004326 70 Cachexia
HP:0001315 70 Reduced tendon reflexes
HP:0002804 70 Arthrogryposis multiplex congenita
HP:0002878 70 Respiratory failure
HP:0003457 70 EMG abnormality
HP:0003324 70 Generalized muscle weakness
HP:0003701 70 Proximal muscle weakness
HP:0002421 70 Poor head control
HP:0003803 70 Type 1 muscle fiber predominance
HP:0005855 70 Multiple prenatal fractures
HP:0003722 70 Neck flexor weakness
HP:0030196 70 Fatigable weakness of respiratory muscles
HP:0002792 70 Reduced vital capacity
HP:0002486 70 Myotonia



Cluster #72

HPO Cluster Description
HP:0003198 72 Myopathy
HP:0002355 72 Difficulty walking
HP:0008994 72 Proximal muscle weakness in lower limbs
HP:0008981 72 Calf muscle hypertrophy
HP:0001638 72 Cardiomyopathy
HP:0003551 72 Difficulty climbing stairs
HP:0002522 72 Areflexia of lower limbs
HP:0002747 72 Respiratory insufficiency due to muscle weakness
HP:0003738 72 Exercise-induced myalgia
HP:0008180 72 Mildly elevated creatine kinase
HP:0008997 72 Proximal muscle weakness in upper limbs
HP:0003690 72 Limb muscle weakness
HP:0008954 72 Intrinsic hand muscle atrophy
HP:0008963 72 Tibialis muscle weakness
HP:0009073 72 Progressive proximal muscle weakness
HP:0040081 72 Abnormal circulating creatine kinase concentration
HP:0006957 72 Loss of ability to walk
HP:0030319 72 Weakness of facial musculature
HP:0003547 72 Shoulder girdle muscle weakness



Cluster #73

HPO Cluster Description
HP:0002359 73 Frequent falls
HP:0009046 73 Difficulty running
HP:0002058 73 Myopathic facies
HP:0011712 73 Right bundle branch block
HP:0002540 73 Inability to walk
HP:0003698 73 Difficulty standing
HP:0003551 73 Difficulty climbing stairs
HP:0001771 73 Achilles tendon contracture
HP:0012664 73 Reduced ejection fraction
HP:0030051 73 Tip-toe gait
HP:0005085 73 Limited knee flexion/extension



Cluster #75

HPO Cluster Description
HP:0003198 75 Myopathy
HP:0009053 75 Distal lower limb muscle weakness
HP:0002515 75 Waddling gait
HP:0003236 75 Elevated serum creatine kinase
HP:0002375 75 Hypokinesia
HP:0001561 75 Polyhydramnios
HP:0002878 75 Respiratory failure
HP:0003557 75 Increased variability in muscle fiber diameter
HP:0002421 75 Poor head control
HP:0001558 75 Decreased fetal movement
HP:0003306 75 Spinal rigidity
HP:0003327 75 Axial muscle weakness
HP:0000467 75 Neck muscle weakness
HP:0001349 75 Facial diplegia
HP:0003403 75 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003803 75 Type 1 muscle fiber predominance
HP:0002747 75 Respiratory insufficiency due to muscle weakness
HP:0003798 75 Nemaline bodies
HP:0009025 75 Increased connective tissue
HP:0003325 75 Limb-girdle muscle weakness
HP:0003388 75 Easy fatigability
HP:0008959 75 Distal upper limb muscle weakness
HP:0009073 75 Progressive proximal muscle weakness
HP:0006957 75 Loss of ability to walk
HP:0030319 75 Weakness of facial musculature



Cluster #76

HPO Cluster Description
HP:0040083 76 Toe walking
HP:0007210 76 Lower limb amyotrophy
HP:0009046 76 Difficulty running
HP:0010628 76 Facial palsy
HP:0003557 76 Increased variability in muscle fiber diameter
HP:0002421 76 Poor head control
HP:0003691 76 Scapular winging
HP:0008997 76 Proximal muscle weakness in upper limbs
HP:0003730 76 EMG: myotonic runs
HP:0012548 76 Fatty replacement of skeletal muscle
HP:0030007 76 EMG: positive sharp waves
HP:0100284 76 EMG: myotonic discharges



Cluster #79

HPO Cluster Description
HP:0001270 79 Motor delay
HP:0002359 79 Frequent falls
HP:0003202 79 Skeletal muscle atrophy
HP:0009027 79 Foot dorsiflexor weakness
HP:0001290 79 Generalized hypotonia
HP:0001265 79 Hyporeflexia
HP:0001284 79 Areflexia
HP:0002460 79 Distal muscle weakness
HP:0000597 79 Ophthalmoparesis
HP:0003457 79 EMG abnormality
HP:0003700 79 Generalized amyotrophy
HP:0001349 79 Facial diplegia
HP:0003805 79 Rimmed vacuoles
HP:0012548 79 Fatty replacement of skeletal muscle
HP:0002380 79 Fasciculations



Cluster #80

HPO Cluster Description
HP:0009053 80 Distal lower limb muscle weakness
HP:0008800 80 Limited hip movement
HP:0001436 80 Abnormality of the foot musculature
HP:0009027 80 Foot dorsiflexor weakness
HP:0003236 80 Elevated serum creatine kinase
HP:0003691 80 Scapular winging
HP:0002792 80 Reduced vital capacity
HP:0012548 80 Fatty replacement of skeletal muscle
HP:0009046 80 Difficulty running
HP:0000467 80 Neck muscle weakness
HP:0002540 80 Inability to walk
HP:0001349 80 Facial diplegia
HP:0003687 80 Centrally nucleated skeletal muscle fibers
HP:0003803 80 Type 1 muscle fiber predominance
HP:0003798 80 Nemaline bodies
HP:0003325 80 Limb-girdle muscle weakness
HP:0008959 80 Distal upper limb muscle weakness
HP:0008963 80 Tibialis muscle weakness
HP:0003555 80 Muscle fiber splitting
HP:0100297 80 Increased endomysial connective tissue
HP:0003547 80 Shoulder girdle muscle weakness
HP:0006467 80 Limited shoulder movement



Cluster #81

HPO Cluster Description
HP:0008800 81 Limited hip movement
HP:0009027 81 Foot dorsiflexor weakness
HP:0008994 81 Proximal muscle weakness in lower limbs
HP:0009046 81 Difficulty running
HP:0008981 81 Calf muscle hypertrophy
HP:0003236 81 Elevated serum creatine kinase
HP:0001638 81 Cardiomyopathy
HP:0003557 81 Increased variability in muscle fiber diameter
HP:0011712 81 Right bundle branch block
HP:0003306 81 Spinal rigidity
HP:0003327 81 Axial muscle weakness
HP:0003551 81 Difficulty climbing stairs
HP:0003691 81 Scapular winging
HP:0003803 81 Type 1 muscle fiber predominance
HP:0002747 81 Respiratory insufficiency due to muscle weakness
HP:0003458 81 EMG: myopathic abnormalities
HP:0008997 81 Proximal muscle weakness in upper limbs
HP:0003798 81 Nemaline bodies
HP:0003722 81 Neck flexor weakness
HP:0002792 81 Reduced vital capacity
HP:0009005 81 Weakness of the intrinsic hand muscles
HP:0003730 81 EMG: myotonic runs
HP:0025169 81 Left ventricular systolic dysfunction
HP:0003547 81 Shoulder girdle muscle weakness
HP:0030051 81 Tip-toe gait
HP:0005085 81 Limited knee flexion/extension
HP:0100748 81 Muscular edema
HP:0009077 81 Weakness of long finger extensor muscles
HP:0030007 81 EMG: positive sharp waves
HP:0100284 81 EMG: myotonic discharges



Cluster #83

HPO Cluster Description
HP:0003198 83 Myopathy
HP:0001288 83 Gait disturbance
HP:0003236 83 Elevated serum creatine kinase
HP:0003712 83 Skeletal muscle hypertrophy
HP:0001276 83 Hypertonia
HP:0001561 83 Polyhydramnios
HP:0002058 83 Myopathic facies
HP:0003457 83 EMG abnormality
HP:0002047 83 Malignant hyperthermia
HP:0003803 83 Type 1 muscle fiber predominance
HP:0002747 83 Respiratory insufficiency due to muscle weakness
HP:0003388 83 Easy fatigability
HP:0002486 83 Myotonia



Cluster #84

HPO Cluster Description
HP:0001270 84 Motor delay
HP:0002359 84 Frequent falls
HP:0002515 84 Waddling gait
HP:0009046 84 Difficulty running
HP:0008981 84 Calf muscle hypertrophy
HP:0003236 84 Elevated serum creatine kinase
HP:0003391 84 Gowers sign
HP:0002938 84 Lumbar hyperlordosis
HP:0003700 84 Generalized amyotrophy
HP:0003551 84 Difficulty climbing stairs
HP:0003691 84 Scapular winging
HP:0008997 84 Proximal muscle weakness in upper limbs
HP:0001771 84 Achilles tendon contracture
HP:0003707 84 Calf muscle pseudohypertrophy
HP:0003803 84 Type 1 muscle fiber predominance
HP:0003325 84 Limb-girdle muscle weakness
HP:0003388 84 Easy fatigability



Cluster #85

HPO Cluster Description
HP:0002359 85 Frequent falls
HP:0002355 85 Difficulty walking
HP:0009027 85 Foot dorsiflexor weakness
HP:0009046 85 Difficulty running
HP:0008981 85 Calf muscle hypertrophy
HP:0010628 85 Facial palsy
HP:0003557 85 Increased variability in muscle fiber diameter
HP:0003551 85 Difficulty climbing stairs
HP:0003803 85 Type 1 muscle fiber predominance
HP:0003388 85 Easy fatigability
HP:0008963 85 Tibialis muscle weakness
HP:0003547 85 Shoulder girdle muscle weakness
HP:0003731 85 Quadriceps muscle weakness
HP:0006467 85 Limited shoulder movement
HP:0031108 85 Triceps weakness



Cluster #87

HPO Cluster Description
HP:0002359 87 Frequent falls
HP:0009046 87 Difficulty running
HP:0008981 87 Calf muscle hypertrophy
HP:0011712 87 Right bundle branch block
HP:0003551 87 Difficulty climbing stairs
HP:0003691 87 Scapular winging
HP:0003730 87 EMG: myotonic runs
HP:0025169 87 Left ventricular systolic dysfunction
HP:0001771 87 Achilles tendon contracture
HP:0030051 87 Tip-toe gait
HP:0030007 87 EMG: positive sharp waves
HP:0100284 87 EMG: myotonic discharges



Cluster #88

HPO Cluster Description
HP:0002093 88 Respiratory insufficiency
HP:0003202 88 Skeletal muscle atrophy
HP:0003236 88 Elevated serum creatine kinase
HP:0000508 88 Ptosis
HP:0002375 88 Hypokinesia
HP:0001561 88 Polyhydramnios
HP:0002804 88 Arthrogryposis multiplex congenita
HP:0003323 88 Progressive muscle weakness
HP:0001638 88 Cardiomyopathy
HP:0002047 88 Malignant hyperthermia
HP:0003306 88 Spinal rigidity
HP:0003273 88 Hip contracture
HP:0003737 88 Mitochondrial myopathy



Cluster #90

HPO Cluster Description
HP:0001288 90 Gait disturbance
HP:0001324 90 Muscle weakness
HP:0000298 90 Mask-like facies
HP:0001284 90 Areflexia
HP:0000602 90 Ophthalmoplegia



Cluster #91

HPO Cluster Description
HP:0001290 91 Generalized hypotonia
HP:0003236 91 Elevated serum creatine kinase
HP:0003712 91 Skeletal muscle hypertrophy
HP:0003391 91 Gowers sign
HP:0003737 91 Mitochondrial myopathy
HP:0000597 91 Ophthalmoparesis
HP:0000298 91 Mask-like facies
HP:0003200 91 Ragged-red muscle fibers
HP:0003306 91 Spinal rigidity



Cluster #92

HPO Cluster Description
HP:0002355 92 Difficulty walking
HP:0009027 92 Foot dorsiflexor weakness
HP:0001265 92 Hyporeflexia
HP:0009046 92 Difficulty running
HP:0001284 92 Areflexia
HP:0001638 92 Cardiomyopathy
HP:0003391 92 Gowers sign
HP:0003749 92 Pelvic girdle muscle weakness
HP:0000467 92 Neck muscle weakness
HP:0002747 92 Respiratory insufficiency due to muscle weakness
HP:0008997 92 Proximal muscle weakness in upper limbs
HP:0009073 92 Progressive proximal muscle weakness
HP:0040081 92 Abnormal circulating creatine kinase concentration
HP:0012548 92 Fatty replacement of skeletal muscle
HP:0009063 92 Progressive distal muscle weakness
HP:0001771 92 Achilles tendon contracture
HP:0003547 92 Shoulder girdle muscle weakness



Cluster #94

HPO Cluster Description
HP:0031374 94 Ankle weakness
HP:0007149 94 Distal upper limb amyotrophy
HP:0002835 94 Aspiration
HP:0008049 94 Abnormality of the extraocular muscles
HP:0007354 94 Amyotrophic lateral sclerosis
HP:0001430 94 Abnormality of the calf musculature



Cluster #95

HPO Cluster Description
HP:0008800 95 Limited hip movement
HP:0003394 95 Muscle spasm
HP:0001436 95 Abnormality of the foot musculature
HP:0009027 95 Foot dorsiflexor weakness
HP:0031374 95 Ankle weakness
HP:0008956 95 Proximal lower limb amyotrophy
HP:0001638 95 Cardiomyopathy
HP:0003324 95 Generalized muscle weakness
HP:0030198 95 Fatigable weakness of distal limb muscles
HP:0008963 95 Tibialis muscle weakness
HP:0003555 95 Muscle fiber splitting
HP:0100297 95 Increased endomysial connective tissue
HP:0003756 95 Skeletal myopathy
HP:0009077 95 Weakness of long finger extensor muscles
HP:0006467 95 Limited shoulder movement
HP:0011808 95 Decreased patellar reflex
HP:0031108 95 Triceps weakness



Cluster #99

HPO Cluster Description
HP:0001270 99 Motor delay
HP:0002359 99 Frequent falls
HP:0000580 99 Pigmentary retinopathy
HP:0001712 99 Left ventricular hypertrophy
HP:0003546 99 Exercise intolerance
HP:0003128 99 Lactic acidosis
HP:0003324 99 Generalized muscle weakness
HP:0006957 99 Loss of ability to walk
HP:0030319 99 Weakness of facial musculature
HP:0003737 99 Mitochondrial myopathy
HP:0003756 99 Skeletal myopathy



Cluster #102

HPO Cluster Description
HP:0003198 102 Myopathy
HP:0001270 102 Motor delay
HP:0009053 102 Distal lower limb muscle weakness
HP:0002515 102 Waddling gait
HP:0001265 102 Hyporeflexia
HP:0003236 102 Elevated serum creatine kinase
HP:0010628 102 Facial palsy
HP:0001315 102 Reduced tendon reflexes
HP:0002804 102 Arthrogryposis multiplex congenita
HP:0001638 102 Cardiomyopathy
HP:0002058 102 Myopathic facies
HP:0003701 102 Proximal muscle weakness
HP:0002421 102 Poor head control
HP:0003306 102 Spinal rigidity
HP:0002540 102 Inability to walk
HP:0100295 102 Muscle fiber atrophy
HP:0003691 102 Scapular winging
HP:0001612 102 Weak cry
HP:0003730 102 EMG: myotonic runs
HP:0006785 102 Limb-girdle muscular dystrophy



Cluster #104

HPO Cluster Description
HP:0008800 104 Limited hip movement
HP:0001436 104 Abnormality of the foot musculature
HP:0030237 104 Hand muscle weakness
HP:0030838 104 Hip pain
HP:0031374 104 Ankle weakness
HP:0040131 104 Abnormal motor nerve conduction velocity
HP:0007354 104 Amyotrophic lateral sclerosis



Cluster #105

HPO Cluster Description
HP:0009053 105 Distal lower limb muscle weakness
HP:0002355 105 Difficulty walking
HP:0009027 105 Foot dorsiflexor weakness
HP:0009046 105 Difficulty running
HP:0030198 105 Fatigable weakness of distal limb muscles
HP:0002792 105 Reduced vital capacity
HP:0008954 105 Intrinsic hand muscle atrophy
HP:0009005 105 Weakness of the intrinsic hand muscles
HP:0009077 105 Weakness of long finger extensor muscles
HP:0008959 105 Distal upper limb muscle weakness
HP:0009073 105 Progressive proximal muscle weakness
HP:0040081 105 Abnormal circulating creatine kinase concentration
HP:0009063 105 Progressive distal muscle weakness
HP:0012548 105 Fatty replacement of skeletal muscle



Cluster #106

HPO Cluster Description
HP:0002910 106 Elevated hepatic transaminase
HP:0003394 106 Muscle spasm
HP:0001644 106 Dilated cardiomyopathy
HP:0001638 106 Cardiomyopathy
HP:0003128 106 Lactic acidosis
HP:0008331 106 Elevated creatine kinase after exercise
HP:0040081 106 Abnormal circulating creatine kinase concentration



Cluster #107

HPO Cluster Description
HP:0002359 107 Frequent falls
HP:0040083 107 Toe walking
HP:0007340 107 Lower limb muscle weakness
HP:0007210 107 Lower limb amyotrophy
HP:0002355 107 Difficulty walking
HP:0003394 107 Muscle spasm
HP:0003236 107 Elevated serum creatine kinase
HP:0008081 107 Pes valgus
HP:0003551 107 Difficulty climbing stairs
HP:0009063 107 Progressive distal muscle weakness



Cluster #108

HPO Cluster Description
HP:0003198 108 Myopathy
HP:0007149 108 Distal upper limb amyotrophy
HP:0003457 108 EMG abnormality
HP:0009743 108 Distichiasis
HP:0001621 108 Weak voice
HP:0002835 108 Aspiration
HP:0007354 108 Amyotrophic lateral sclerosis



Cluster #109

HPO Cluster Description
HP:0002359 109 Frequent falls
HP:0001288 109 Gait disturbance
HP:0002355 109 Difficulty walking
HP:0001290 109 Generalized hypotonia
HP:0001324 109 Muscle weakness
HP:0003236 109 Elevated serum creatine kinase
HP:0003712 109 Skeletal muscle hypertrophy
HP:0000597 109 Ophthalmoparesis
HP:0001276 109 Hypertonia
HP:0003326 109 Myalgia
HP:0000590 109 Progressive external ophthalmoplegia
HP:0003391 109 Gowers sign
HP:0003749 109 Pelvic girdle muscle weakness
HP:0003457 109 EMG abnormality
HP:0003546 109 Exercise intolerance
HP:0100749 109 Chest pain
HP:0003324 109 Generalized muscle weakness
HP:0000467 109 Neck muscle weakness
HP:0001349 109 Facial diplegia
HP:0003551 109 Difficulty climbing stairs
HP:0003458 109 EMG: myopathic abnormalities
HP:0008180 109 Mildly elevated creatine kinase
HP:0009073 109 Progressive proximal muscle weakness
HP:0040081 109 Abnormal circulating creatine kinase concentration
HP:0012548 109 Fatty replacement of skeletal muscle
HP:0030319 109 Weakness of facial musculature
HP:0003737 109 Mitochondrial myopathy
HP:0003547 109 Shoulder girdle muscle weakness
HP:0002486 109 Myotonia
HP:0003707 109 Calf muscle pseudohypertrophy
HP:0009063 109 Progressive distal muscle weakness



Cluster #110

HPO Cluster Description
HP:0002015 110 Dysphagia
HP:0001270 110 Motor delay
HP:0002359 110 Frequent falls
HP:0003693 110 Distal amyotrophy
HP:0007340 110 Lower limb muscle weakness
HP:0003484 110 Upper limb muscle weakness
HP:0002355 110 Difficulty walking
HP:0003394 110 Muscle spasm
HP:0007141 110 Sensorimotor neuropathy
HP:0001265 110 Hyporeflexia
HP:0001324 110 Muscle weakness
HP:0001284 110 Areflexia
HP:0002460 110 Distal muscle weakness
HP:0000597 110 Ophthalmoparesis
HP:0002375 110 Hypokinesia
HP:0000602 110 Ophthalmoplegia
HP:0003326 110 Myalgia
HP:0002878 110 Respiratory failure
HP:0000590 110 Progressive external ophthalmoplegia
HP:0003200 110 Ragged-red muscle fibers
HP:0003546 110 Exercise intolerance
HP:0003324 110 Generalized muscle weakness
HP:0001618 110 Dysphonia
HP:0002540 110 Inability to walk
HP:0100295 110 Muscle fiber atrophy
HP:0001349 110 Facial diplegia
HP:0003551 110 Difficulty climbing stairs
HP:0002747 110 Respiratory insufficiency due to muscle weakness
HP:0005855 110 Multiple prenatal fractures
HP:0003388 110 Easy fatigability
HP:0001612 110 Weak cry
HP:0002578 110 Gastroparesis
HP:0002127 110 Abnormal upper motor neuron morphology
HP:0001283 110 Bulbar palsy
HP:0030319 110 Weakness of facial musculature
HP:0003737 110 Mitochondrial myopathy
HP:0012664 110 Reduced ejection fraction
HP:0002835 110 Aspiration
HP:0005085 110 Limited knee flexion/extension
HP:0100748 110 Muscular edema
HP:0008049 110 Abnormality of the extraocular muscles
HP:0010548 110 Percussion myotonia



Cluster #116

HPO Cluster Description
HP:0002515 116 Waddling gait
HP:0009046 116 Difficulty running
HP:0008981 116 Calf muscle hypertrophy
HP:0003236 116 Elevated serum creatine kinase
HP:0003560 116 Muscular dystrophy
HP:0001644 116 Dilated cardiomyopathy
HP:0003391 116 Gowers sign
HP:0003749 116 Pelvic girdle muscle weakness
HP:0010508 116 Metatarsus valgus
HP:0003701 116 Proximal muscle weakness
HP:0003551 116 Difficulty climbing stairs
HP:0040081 116 Abnormal circulating creatine kinase concentration
HP:0002987 116 Elbow flexion contracture
HP:0001771 116 Achilles tendon contracture
HP:0003547 116 Shoulder girdle muscle weakness



Cluster #119

HPO Cluster Description
HP:0001270 119 Motor delay
HP:0002515 119 Waddling gait
HP:0001265 119 Hyporeflexia
HP:0001284 119 Areflexia
HP:0003236 119 Elevated serum creatine kinase
HP:0000508 119 Ptosis
HP:0000597 119 Ophthalmoparesis
HP:0001561 119 Polyhydramnios
HP:0000298 119 Mask-like facies
HP:0004326 119 Cachexia
HP:0000602 119 Ophthalmoplegia
HP:0002804 119 Arthrogryposis multiplex congenita
HP:0003200 119 Ragged-red muscle fibers
HP:0003128 119 Lactic acidosis
HP:0003701 119 Proximal muscle weakness
HP:0002421 119 Poor head control
HP:0001558 119 Decreased fetal movement
HP:0003306 119 Spinal rigidity
HP:0001349 119 Facial diplegia
HP:0003691 119 Scapular winging
HP:0003803 119 Type 1 muscle fiber predominance
HP:0002747 119 Respiratory insufficiency due to muscle weakness
HP:0003458 119 EMG: myopathic abnormalities
HP:0003388 119 Easy fatigability
HP:0000600 119 Abnormality of the pharynx
HP:0002578 119 Gastroparesis
HP:0011807 119 Type 1 muscle fiber atrophy
HP:0003737 119 Mitochondrial myopathy
HP:0008316 119 Abnormal mitochondria in muscle tissue



Cluster #121

HPO Cluster Description
HP:0002375 121 Hypokinesia
HP:0009025 121 Increased connective tissue
HP:0012664 121 Reduced ejection fraction
HP:0002835 121 Aspiration
HP:0030234 121 Highly elevated creatine kinase
HP:0003741 121 Congenital muscular dystrophy



Cluster #123

HPO Cluster Description
HP:0002460 123 Distal muscle weakness
HP:0003458 123 EMG: myopathic abnormalities
HP:0008180 123 Mildly elevated creatine kinase
HP:0008316 123 Abnormal mitochondria in muscle tissue
HP:0008049 123 Abnormality of the extraocular muscles
HP:0007354 123 Amyotrophic lateral sclerosis
HP:0001430 123 Abnormality of the calf musculature



Cluster #126

HPO Cluster Description
HP:0001270 126 Motor delay
HP:0002359 126 Frequent falls
HP:0001290 126 Generalized hypotonia
HP:0003326 126 Myalgia
HP:0003391 126 Gowers sign
HP:0003546 126 Exercise intolerance
HP:0003324 126 Generalized muscle weakness
HP:0003700 126 Generalized amyotrophy
HP:0001349 126 Facial diplegia
HP:0001712 126 Left ventricular hypertrophy
HP:0003551 126 Difficulty climbing stairs
HP:0003756 126 Skeletal myopathy
HP:0003687 126 Centrally nucleated skeletal muscle fibers
HP:0003803 126 Type 1 muscle fiber predominance
HP:0003388 126 Easy fatigability



Cluster #129

HPO Cluster Description
HP:0001288 129 Gait disturbance
HP:0001324 129 Muscle weakness
HP:0003236 129 Elevated serum creatine kinase
HP:0003712 129 Skeletal muscle hypertrophy
HP:0000597 129 Ophthalmoparesis
HP:0001276 129 Hypertonia
HP:0000298 129 Mask-like facies
HP:0004326 129 Cachexia
HP:0001315 129 Reduced tendon reflexes
HP:0003307 129 Hyperlordosis
HP:0003457 129 EMG abnormality
HP:0100749 129 Chest pain
HP:0002486 129 Myotonia
HP:0003200 129 Ragged-red muscle fibers



Cluster #135

HPO Cluster Description
HP:0007340 135 Lower limb muscle weakness
HP:0003394 135 Muscle spasm
HP:0001324 135 Muscle weakness
HP:0003201 135 Rhabdomyolysis
HP:0001663 135 Ventricular fibrillation
HP:0009020 135 Exercise-induced muscle fatigue
HP:0003756 135 Skeletal myopathy
HP:0011808 135 Decreased patellar reflex



Cluster #136

HPO Cluster Description
HP:0009053 136 Distal lower limb muscle weakness
HP:0003693 136 Distal amyotrophy
HP:0007340 136 Lower limb muscle weakness
HP:0003202 136 Skeletal muscle atrophy
HP:0007141 136 Sensorimotor neuropathy
HP:0003484 136 Upper limb muscle weakness
HP:0000580 136 Pigmentary retinopathy
HP:0009027 136 Foot dorsiflexor weakness
HP:0001284 136 Areflexia
HP:0002460 136 Distal muscle weakness
HP:0001638 136 Cardiomyopathy
HP:0002421 136 Poor head control
HP:0002540 136 Inability to walk
HP:0003551 136 Difficulty climbing stairs
HP:0002522 136 Areflexia of lower limbs



Cluster #139

HPO Cluster Description
HP:0000580 139 Pigmentary retinopathy
HP:0001644 139 Dilated cardiomyopathy
HP:0005150 139 Abnormal atrioventricular conduction
HP:0006957 139 Loss of ability to walk
HP:0003756 139 Skeletal myopathy
HP:0003797 139 Limb-girdle muscle atrophy



Cluster #142

HPO Cluster Description
HP:0001436 142 Abnormality of the foot musculature
HP:0002878 142 Respiratory failure
HP:0001638 142 Cardiomyopathy
HP:0003546 142 Exercise intolerance
HP:0003306 142 Spinal rigidity
HP:0003327 142 Axial muscle weakness
HP:0003803 142 Type 1 muscle fiber predominance
HP:0002522 142 Areflexia of lower limbs
HP:0002747 142 Respiratory insufficiency due to muscle weakness
HP:0003722 142 Neck flexor weakness
HP:0030196 142 Fatigable weakness of respiratory muscles
HP:0030192 142 Fatigable weakness of bulbar muscles
HP:0030319 142 Weakness of facial musculature



Cluster #143

HPO Cluster Description
HP:0003394 143 Muscle spasm
HP:0000597 143 Ophthalmoparesis
HP:0000298 143 Mask-like facies
HP:0003200 143 Ragged-red muscle fibers
HP:0002578 143 Gastroparesis
HP:0003737 143 Mitochondrial myopathy
HP:0000544 143 External ophthalmoplegia
HP:0003457 143 EMG abnormality
HP:0003388 143 Easy fatigability
HP:0012664 143 Reduced ejection fraction



Cluster #145

HPO Cluster Description
HP:0002359 145 Frequent falls
HP:0009053 145 Distal lower limb muscle weakness
HP:0002355 145 Difficulty walking
HP:0008994 145 Proximal muscle weakness in lower limbs
HP:0009046 145 Difficulty running
HP:0003236 145 Elevated serum creatine kinase
HP:0002540 145 Inability to walk
HP:0003551 145 Difficulty climbing stairs
HP:0008180 145 Mildly elevated creatine kinase
HP:0008997 145 Proximal muscle weakness in upper limbs
HP:0008959 145 Distal upper limb muscle weakness
HP:0030237 145 Hand muscle weakness
HP:0001265 145 Hyporeflexia
HP:0001284 145 Areflexia
HP:0001638 145 Cardiomyopathy
HP:0003546 145 Exercise intolerance
HP:0003738 145 Exercise-induced myalgia
HP:0003722 145 Neck flexor weakness
HP:0030192 145 Fatigable weakness of bulbar muscles
HP:0006957 145 Loss of ability to walk
HP:0001771 145 Achilles tendon contracture
HP:0003731 145 Quadriceps muscle weakness
HP:0030051 145 Tip-toe gait
HP:0031108 145 Triceps weakness
HP:0030198 145 Fatigable weakness of distal limb muscles
HP:0003805 145 Rimmed vacuoles
HP:0005085 145 Limited knee flexion/extension
HP:0100748 145 Muscular edema



Cluster #146

HPO Cluster Description
HP:0003323 146 Progressive muscle weakness
HP:0012507 146 Weakness of orbicularis oculi muscle
HP:0008316 146 Abnormal mitochondria in muscle tissue
HP:0001430 146 Abnormality of the calf musculature



Cluster #147

HPO Cluster Description
HP:0002359 147 Frequent falls
HP:0040083 147 Toe walking
HP:0001265 147 Hyporeflexia
HP:0003236 147 Elevated serum creatine kinase
HP:0001644 147 Dilated cardiomyopathy
HP:0001638 147 Cardiomyopathy
HP:0000590 147 Progressive external ophthalmoplegia
HP:0003200 147 Ragged-red muscle fibers
HP:0003546 147 Exercise intolerance
HP:0001618 147 Dysphonia
HP:0002747 147 Respiratory insufficiency due to muscle weakness
HP:0009073 147 Progressive proximal muscle weakness
HP:0030319 147 Weakness of facial musculature
HP:0003306 147 Spinal rigidity
HP:0000467 147 Neck muscle weakness
HP:0001349 147 Facial diplegia
HP:0003551 147 Difficulty climbing stairs
HP:0008180 147 Mildly elevated creatine kinase
HP:0008997 147 Proximal muscle weakness in upper limbs
HP:0003690 147 Limb muscle weakness
HP:0030192 147 Fatigable weakness of bulbar muscles
HP:0003388 147 Easy fatigability
HP:0001771 147 Achilles tendon contracture
HP:0003737 147 Mitochondrial myopathy
HP:0003547 147 Shoulder girdle muscle weakness



Cluster #149

HPO Cluster Description
HP:0008800 149 Limited hip movement
HP:0011712 149 Right bundle branch block
HP:0002540 149 Inability to walk
HP:0002792 149 Reduced vital capacity
HP:0012548 149 Fatty replacement of skeletal muscle
HP:0100297 149 Increased endomysial connective tissue
HP:0012664 149 Reduced ejection fraction
HP:0030051 149 Tip-toe gait
HP:0003736 149 Autophagic vacuoles
HP:0005085 149 Limited knee flexion/extension
HP:0100748 149 Muscular edema
HP:0012515 149 Hip flexor weakness