Facioscapulohumeral muscular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B C1834671 SMCHD1 Causal Pathogenic evidence from ClinVar 23143600, 24075187, 24128691, 25256356, 25370034, 27059856, 28067909, 28067911, 29748383 ClinVar
DNMT3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27153398 -
Muscular Dystrophy, Facioscapulohumeral C0238288 SMCHD1 Causal Pathogenic evidence from ClinVar 23143600, 24075187, 24128691 ClinVar
ACAN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
CDKN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
COL3A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
DCN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
DUX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22796148 -
DUX4L1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ELN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
FRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23300487, 23525014, 23720823 -
GSTT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
HSPA1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
HSPA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
LUM Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12868502 -
Facioscapulohumeral muscular dystrophy 1a C1834673 DUX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27672539 -
FRG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -