Nephronophthisis

Disease Term Disease ID Gene Symbol Classification References Source
JUVENILE NEPHRONOPHTHISIS
93592
ADAMTS9 Unknown
30609407
Orphanet
ANKS6 Unknown
23793029
Orphanet
GLIS2 Unknown
17618285
Orphanet
MAPKBP1 Unknown
28089251
Orphanet
NPHP1 Unknown — Orphanet
NPHP4 Unknown — Orphanet
WDR19 Unknown
22019273
Orphanet
NEPHRONOPHTHISIS
C0687120HP:0000090MONDO:0019005PS256100
ADAMTS9 Causal — Disgenet
AHI1 Causal — Disgenet
CEP290 Causal — ClinVar Disgenet
CEP83 Causal — ClinVar
CPLANE1 Causal — Disgenet
FAM186B Causal — Disgenet
GLIS2 Causal — ClinVar Disgenet
IFT140 Causal — Disgenet
INCENP Causal — Disgenet
INVS Causal — ClinVar Disgenet
IQCB1 Causal — ClinVar Disgenet
MKKS Causal — Disgenet
NPHP1 Causal — ClinVar Disgenet
NPHP3 Causal
12872122 18371931 19177160
ClinGen ClinVar Disgenet
NPHP4 Causal — ClinVar Disgenet
PIAS1 Causal — Disgenet
RBM48 Causal — Disgenet
RMND1 Causal — Disgenet
TMEM67 Causal — ClinVar Disgenet
TTC21B Causal — ClinVar Disgenet
ANKS6 Unknown — ClinVar
CC2D2A Unknown — Disgenet
CEP164 Unknown — ClinVar Disgenet
DCDC2 Unknown — ClinVar
EVC Unknown — Disgenet
IFT172 Unknown — ClinVar Disgenet
INTU Unknown — Disgenet
KAT6B Unknown — Disgenet
NEK8 Unknown — ClinVar
NIPBL Unknown — Disgenet
RLIG1 Unknown — Disgenet
RPGRIP1L Unknown — ClinVar Disgenet
SDCCAG8 Unknown — ClinVar
SLC41A1 Unknown — Disgenet
SRGAP1 Unknown — Disgenet
WDR19 Unknown — ClinVar
XPNPEP3 Unknown — ClinVar
ZNF423 Unknown — ClinVar Disgenet
NEPHRONOPHTHISIS 1
256100MONDO:0009728
NPHP1 Causal
9382140 8852662 10839884 9326933
ClinGen ClinVar Disgenet HPO
ADAMTS9 Unknown
30609407
CTD
ANKS6 Unknown
23793029
GWAS catalog
GLIS2 Unknown
17618285
Disgenet
MAPKBP1 Unknown
28089251
ClinVar