Renal dysplasia and retinal aplasia

Disease Term Disease ID Gene Symbol Classification References Source
Renal dysplasia and retinal aplasia (disorder) C0403553 IQCB1 Causal Pathogenic evidence from ClinVar 21220633, 21866095, 22819833 ClinVar
SDCCAG8 Causal Pathogenic evidence from ClinVar 22190896, 22819833 ClinVar
WDR19 Causal Pathogenic evidence from ClinVar 23683095 ClinVar
CEP164 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22863007 -
CEP290 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18327255, 20690115, 22819833 -
INVS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12872123, 16522655, 22819833 -
NPHP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15689444, 22819833, 22982934 -
NPHP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22819833 -
NPHP4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22819833 -
POC1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24285566, 28005958, 30425282 -
TRAF3IP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26487268 -