Disease Term Disease ID Gene Symbol Classification References Source
PEHO syndrome 2836, C1850055 KIF1A Causal Pathogenic evidence from ClinVar 26486474 ClinVar
ZNHIT3 Causal Pathogenic evidence from ClinVar 28335020 ClinVar
CCDC88A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26917597 -