HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Tubulointerstitial fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		0.010 GeneticVariation phenotype BEFREE Humans who carry HNF1B mutations develop heterogeneous renal abnormalities, including multicystic dysplastic kidneys, glomerulocystic kidney disease, renal agenesis, renal hypoplasia, and renal interstitial fibrosis. 29961928 2019