Disease Term Disease ID Gene Symbol Classification References Source
Duchenne muscular dystrophy 98896 DMD Causal Pathogenic evidence from ClinVar - ClinVar
LTBP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Muscular Dystrophy, Duchenne C0013264 DMD Causal Pathogenic evidence from ClinVar 2136098, 7981690, 7999513, 8401582, 8817332, 9067763, 9760747, 9851445, 10196701, 10464635, 10909857, 10939566, 11409421, 12632325, 12966700, 14659407, 14751810, 15351422, 16049303, 16122626, 16566881, 16770791, 17041906, 17259292, 17726484, 17854090, 18652600, 19206170, 19309154, 19760747, 19793655, 19823873, 19937601, 19959795, 20485447, 21273767, 21396098, 21399986, 21515508, 21520333, 21969337, 22223181, 23297412, 23453023, 23536893, 23756440, 24302611, 24349043, 25007885, 25244321, 25525159, 25972034, 26911353, 26930420, 26968818, 27593222, 27708273, 27854218, 27930565, 28859693, 29404407 ClinVar
ADCY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
ADCY8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
CCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21641384 -
CD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21641384 -
DOCK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
LINC02694 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
LTBP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23440719 -
POSTN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21641384 -
PTPN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
RGS6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
SHKBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -
TGFB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21641384 -
XYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30014611 -