Disease Term Disease ID Gene Symbol Classification References Source
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME C3280240 IER3IP1 Causal Pathogenic evidence from ClinVar 21835305, 22991235, 24138066 ClinVar
COL12A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27348394 -