DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002170
Disease: Alopecia
Alopecia
0.110 CausalMutation disease CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
CUI: C0002170
Disease: Alopecia
Alopecia
0.110 GeneticVariation disease LHGDN Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
CUI: C0002170
Disease: Alopecia
Alopecia
0.110 Biomarker disease HPO