HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.030 GeneticVariation group BEFREE Structural malformation of male urogenital tract is rare in MODY 5, even rarer is asthenospermia. 29574432 2018
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker group BEFREE Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome. 25256560 2014
CUI: C0302142
Disease: Deformity
Deformity 		0.030 GeneticVariation group BEFREE Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in the forkhead transcription factor 2 (FOXL2) gene. 15450400 2004