Disease Term Disease ID Gene Symbol Classification References Source
Currarino triad C1531773 MNX1 Causal Pathogenic evidence from ClinVar 7550324, 10631160, 10749657, 16906559, 19853743, 22820079, 23370340, 23562494 ClinVar
HPGD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18500342, 21438135 -
MNX1-AS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCSK5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18519639 -