Disease Term Disease ID Gene Symbol Classification References Source
Mohr Syndrome C0026363 INTU Causal Pathogenic evidence from ClinVar - ClinVar
NEK1 Causal Pathogenic evidence from ClinVar 27530628 ClinVar
C2CD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24997988 -