| Infantile nephronophthisis |
93591 |
NPHP3
|
|
|
INVS
|
|
|
NEK8
|
|
|
TTC21B
|
|
|
ANKS6
|
|
|
CEP83
|
|
|
ZNF423
|
|
| Juvenile nephronophthisis |
93592 |
NPHP1
|
|
|
NPHP4
|
|
|
GLIS2
|
|
|
WDR19
|
|
|
ANKS6
|
|
|
MAPKBP1
|
|
|
ADAMTS9
|
|
| Late-onset nephronophthisis |
93589 |
NPHP3
|
|
|
XPNPEP3
|
|
|
MAPKBP1
|
|
| NEPHROLITHIASIS, CALCIUM OXALATE |
C1833683 |
AGXT
|
|
|
AHSG
|
24886237 |
|
CD44
|
24886237 |
|
GRHPR
|
|
|
SLC26A1
|
20160351, 27210743 |
|
OPLAH
|
|
|
HAO1
|
24886237 |
|
SLC6A20
|
|
|
ADCY10
|
|
|
PAQR6
|
24886237 |
|
HOGA1
|
|
|
SLC36A2
|
|
|
SLC6A19
|
|
| Nephronophthisis |
C0687120 |
INCENP
|
26489029 |
|
NPHP1
|
22982934, 15689444, 16762963, 18076122 |
|
PKHD1
|
11898128, 19914852, 15698423, 15805161 |
|
PIAS1
|
26489029 |
|
IQCB1
|
26274329, 24674142, 24625443, 28832562, 20881296, 19430481, 28041643, 23188109, 25851290, 23446637, 21866095, 15723066 |
|
IFT140
|
|
|
SDCCAG8
|
|
|
CEP164
|
|
|
FAN1
|
|
|
MAPKBP1
|
|
|
ZNF423
|
|
|
RPGRIP1L
|
|
|
PRPF40B
|
26489029 |
|
ATXN10
|
21565611 |
|
TRAF3IP1
|
|
|
IFT172
|
|
|
NPHP3
|
19177160, 23559409, 20007846, 19303681, 18371931, 26673778, 12872122 |
|
INVS
|
21866095, 12872123, 23559409 |
|
INTU
|
|
|
PAM16
|
|
|
CEP83
|
|
|
TMEM216
|
|
|
DCDC2
|
|
|
DYNC2LI1
|
|
|
AHI1
|
|
|
DYNC2I1
|
|
|
CC2D2A
|
|
|
IFT80
|
|
|
WDR19
|
|
|
XPNPEP3
|
20179356 |
|
DYNC2H1
|
|
|
TTC21B
|
24876116, 21258341 |
|
CEP290
|
20690115, 23351400, 23559409, 16909394, 17617513, 25097241, 26092869, 20683928, 16682973, 26673778, 28497568, 22693042, 27491411, 23188109, 25818971, 16682970, 21153841, 23954617, 29588463, 23847139, 25445212, 17564967, 21068128, 26047050, 17345604, 23344081, 17964524, 21245082, 29398085, 23591405, 22355252, 17564974, 17409309, 20079931, 21602930, 25920555, 27353947 |
|
RBM48
|
26489029 |
|
FAM186B
|
26489029 |
|
GLIS2
|
18227149, 23559409 |
|
DYNC2I2
|
|
|
TMEM67
|
21866095, 18327255, 16415887, 19508969, 20607301 |
|
IFT43
|
|
|
CEP120
|
|
|
ANKS6
|
|
|
SLC41A1
|
23661805 |
|
NPHP4
|
12244321, 12205563, 15776426 |
|
NEK8
|
26862157, 23418306 |
|
NPHP3-AS1
|
|
|
TTC21B-AS1
|
24876116, 21258341 |
|
NPHP3-ACAD11
|
12872122, 19303681, 19177160, 20007846, 18371931, 23559409, 26673778 |
| Nephronophthisis 1 |
C4551979 |
NPHP1
|
9382140, 10839884, 22982934, 266900, 15689444 |
|
IQCB1
|
|
| NEPHRONOPHTHISIS 11 |
C3150796 |
TMEM67
|
16415887, 19508969, 26191240, 19058225, 20607301, 18327255, 613550 |
| NEPHRONOPHTHISIS 12 |
C3151186 |
TTC21B
|
24876116, 26940125, 21258341, 22425360 |
|
TTC21B-AS1
|
24876116, 26940125 |
| NEPHRONOPHTHISIS 13 |
C3280612 |
WDR19
|
23683095, 27596865, 22019273, 25726036, 23559409, 24504730 |
| NEPHRONOPHTHISIS 14 |
C3539071 |
ZNF423
|
22863007 |
| NEPHRONOPHTHISIS 15 |
C3541853 |
CEP164
|
22863007 |
| NEPHRONOPHTHISIS 16 |
C3809320 |
ANKS6
|
23793029, 2379302 |
| NEPHRONOPHTHISIS 18 |
C3890591 |
CEP83
|
24882706 |
| NEPHRONOPHTHISIS 19 |
C4015542 |
DCDC2
|
22558177, 25557784, 27469900 |
|
KAAG1
|
|
| NEPHRONOPHTHISIS 2 |
C1865872 |
NXPH2
|
|
|
ZNF423
|
22863007 |
|
NPHP3
|
26184788, 18371931 |
|
INVS
|
20798123, 18076122, 12872123, 21866095, 23559409, 19177160 |
|
CEP83
|
24882706 |
|
TTC21B
|
21258341 |
|
ANKS6
|
23793029 |
|
NEK8
|
18199800 |
|
TTC21B-AS1
|
|
| NEPHRONOPHTHISIS 20 |
C4310640 |
MAPKBP1
|
28089251 |
| NEPHRONOPHTHISIS 3 |
C1858392 |
NPHP3
|
28921755, 12872122 |
|
NPHP3-ACAD11
|
28921755 |
| NEPHRONOPHTHISIS 4 |
C1847013 |
NPHP4
|
12244321, 17558407, 22550138, 16339905, 12205563, 15776426, 26346198 |
| NEPHRONOPHTHISIS 7 |
C1969092 |
PAM16
|
|
|
GLIS2
|
23559409, 18227149, 17618285 |
| NEPHRONOPHTHISIS 9 |
C3151188 |
NEK8
|
18199800, 26862157, 23418306 |
| Nephronophthisis type 4 |
C2959367 |
NPHP4
|
|
| Nephronophthisis, familial juvenile |
C1855681 |
NPHP1
|
|
|
MAPKBP1
|
28089251 |
|
ADAMTS9
|
30609407 |
|
WDR19
|
22019273 |
|
GLIS2
|
17618285 |
|
ANKS6
|
23793029 |
|
NPHP4
|
|
