HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Mullerian aplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia 		0.010 GeneticVariation disease BEFREE Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. 25425496 2015