Distal myopathy

Disease Term Disease ID Gene Symbol Classification References Source
MYOPATHY, DISTAL, 5 C4310754 ADSS1 Causal Pathogenic evidence from ClinVar 26506222, 27868399, 28268051 ClinVar
Distal myopathy, Tateyama type 488650 CAV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOPATHY, DISTAL, TATEYAMA TYPE C3280443 CAV3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11805270, 15580566, 18930476 -
SSUH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOPATHY, DISTAL, 4 C3279722 FLNC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15929027, 21520333, 21620354, 25633252, 26436962, 26666891, 27908349, 28008423 -
KLHL9-related early-onset distal myopathy 399081, C4706574 KLHL9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20554658 -
Late-onset distal myopathy, Markesbery-Griggs type 98912 LDB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Distal Myopathy 1 C4552004 MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10750581, 11102913, 11166161, 15322983, 17548557, 19477645, 20186049, 21279644, 23283745, 23290139, 23299917, 24300783, 25132132, 27532257 -
TTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12145747 -
Laing early-onset distal myopathy 59135 MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Distal myopathy, Welander type 603 SQSTM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TIA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Adult-onset distal myopathy due to valosin containing protein mutation C4749506 VCP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21684747 -
Adult-onset distal myopathy due to VCP mutation 329478 VCP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -