Rippling muscle disease

Disease Term Disease ID Gene Symbol Classification References Source
Rippling muscle disease 97238, C1853698 CAV3 Causal Pathogenic evidence from ClinVar 11431690, 12557291, 12666119, 15668980, 16247063, 19697367, 21294223, 30055862 ClinVar
RIPPLING MUSCLE DISEASE 1 C1838254 CAV3 Causal Pathogenic evidence from ClinVar 11431690, 15668980, 16247063, 21294223, 30055862 ClinVar
RIPPLING MUSCLE DISEASE 2 (disorder) C1832560 CAV3 Causal Pathogenic evidence from ClinVar 9537420, 10746614, 11001938, 11431690, 11532985, 11756609, 11805270, 12557291, 12666119, 12807393, 12839838, 12939441, 14633633, 15318349, 15564037, 15580566, 15668980, 16247063, 16458928, 18930476, 19380584, 20472890, 21294223, 21404291, 27854218, 30055862 ClinVar
SSUH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10746614, 11431690, 11756609, 11805270, 12807393, 12839838, 12939441, 14633633, 15318349, 15580566, 18930476, 19380584, 20472890, 21404291, 27854218 -