Disease Term Disease ID Gene Symbol References
Renal dysplasia and retinal aplasia (disorder) C0403553 NPHP1 22982934, 22819833, 15689444
IQCB1 21866095, 21220633, 22819833
SDCCAG8 22819833, 22190896
CEP164 22863007
TRAF3IP1 26487268
NPHP3 22819833
INVS 12872123, 16522655, 22819833
WDR19 23683095
CEP290 20690115, 22819833, 18327255
SCLT1 30425282, 28005958, 24285566
NPHP4 22819833
POC1B