Congenital myopathy

Disease Term Disease ID Gene Symbol Classification References Source
Congenital myopathy (disorder) C0270960 CACNA1S Causal Pathogenic evidence from ClinVar 28012042 ClinVar
HACD1 Causal Pathogenic evidence from ClinVar 23933735 ClinVar
SCN4A Causal Pathogenic evidence from ClinVar 26700687 ClinVar
SELENON Causal Pathogenic evidence from ClinVar 11528383 ClinVar
TPM2 Causal Pathogenic evidence from ClinVar 23413262 ClinVar
TPM3 Causal Pathogenic evidence from ClinVar 10619715 ClinVar
KY Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27484770 -
MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27854218 -
MYL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30215711 -
NEB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12207937 -
RYR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8220423 -
TNNC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26924529 -
TTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28716623 -
Myopathy, Congenital, Compton-North C2675527 CNTN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19026398, 22242131 -
Congenital myopathy, Paradas type 199329 DYSF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -