DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Disease: Hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.130 GeneticVariation disease BEFREE The syndrome is caused by homozygous or compound heterozygous mutations in DCAF17, and has recently been implicated in the development of both male and female gonads, thus resulting in hypogonadism. 31472064 2019
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.130 GeneticVariation disease BEFREE Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. 29178422 2018
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.130 CausalMutation disease CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.130 GeneticVariation disease LHGDN Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.130 Biomarker disease HPO