Nephronophthisis

Disease Term Disease ID Gene Symbol Classification References Source
Nephronophthisis, familial juvenile C1855681 NPHP4 Causal Pathogenic evidence from ClinVar - ClinVar
WDR19 Causal Pathogenic evidence from ClinVar 22019273 ClinVar
ADAMTS9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30609407 -
Nephronophthisis C0687120 PIAS1 Causal Pathogenic evidence from ClinVar 26489029 ClinVar
RBM48 Causal Pathogenic evidence from ClinVar 26489029 ClinVar
TMEM67 Causal Pathogenic evidence from ClinVar 16415887, 18327255, 19508969, 20607301, 21866095 ClinVar
TTC21B Causal Pathogenic evidence from ClinVar 21258341, 24876116 ClinVar
WDR19 Causal Pathogenic evidence from ClinVar - ClinVar
ZNF423 Causal Pathogenic evidence from ClinVar - ClinVar
ATXN10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21565611 -
CC2D2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CEP120 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2H1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2I1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2I2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYNC2LI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FAN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT172 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT43 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IFT80 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
INTU Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NPHP3-ACAD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12872122, 18371931, 19177160, 19303681, 20007846, 23559409, 26673778 -
NPHP3-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PAM16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PKHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11898128, 15698423, 15805161, 19914852 -
PRPF40B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26489029 -
RPGRIP1L Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEPHRONOPHTHISIS 11 C3150796 TMEM67 Causal Pathogenic evidence from ClinVar 613550, 16415887, 18327255, 19058225, 19508969, 20607301, 26191240 ClinVar
Infantile nephronophthisis 93591 TTC21B Causal Pathogenic evidence from ClinVar - ClinVar
ZNF423 Causal Pathogenic evidence from ClinVar - ClinVar
NEPHRONOPHTHISIS 12 C3151186 TTC21B Causal Pathogenic evidence from ClinVar 21258341, 22425360, 24876116, 26940125 ClinVar
NEPHRONOPHTHISIS 2 C1865872 TTC21B Causal Pathogenic evidence from ClinVar 21258341 ClinVar
ZNF423 Causal Pathogenic evidence from ClinVar 22863007 ClinVar
NXPH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Juvenile nephronophthisis 93592 WDR19 Causal Pathogenic evidence from ClinVar - ClinVar
ADAMTS9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEPHRONOPHTHISIS 13 C3280612 WDR19 Causal Pathogenic evidence from ClinVar 22019273, 23559409, 23683095, 24504730, 25726036, 27596865 ClinVar
NEPHRONOPHTHISIS 14 C3539071 ZNF423 Causal Pathogenic evidence from ClinVar 22863007 ClinVar
NEPHROLITHIASIS, CALCIUM OXALATE C1833683 ADCY10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGXT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AHSG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24886237 -
CD44 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24886237 -
GRHPR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HAO1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24886237 -
HOGA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OPLAH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PAQR6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24886237 -
NEPHRONOPHTHISIS 19 C4015542 KAAG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NEPHRONOPHTHISIS 3 C1858392 NPHP3-ACAD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28921755 -
NEPHRONOPHTHISIS 7 C1969092 PAM16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -