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HNF1B

HNF1 homeobox B

gene with protein productOMIM: 1899079 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)6
Medullary sponge kidneyORPHA:1309
→
HNF1B-related autosomal dominant tubulointerstitial kidney diseaseORPHA:93111
→
Renal dysplasia, unilateralORPHA:93172
→
Renal dysplasia, bilateralORPHA:93173
→
Unilateral multicystic dysplastic kidneyORPHA:97363
→
Bilateral multicystic dysplastic kidneyORPHA:97364
→
Основной фактор предрасположенности1
Familial prostate cancerORPHA:1331
→
Disease-causing germline mutation(s) (loss of function) in1
Mayer-Rokitansky-Küster-Hauser syndrome type 2ORPHA:2578
→
Роль в фенотипе1
17q12 microdeletion syndromeORPHA:261265
→
Данные: Orphadata (CC-BY-4.0)