DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Disease: Woodhouse Sakati syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. 31323129 2020
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Woodhouse-Sakati syndrome was diagnosed on the basis of consistent clinical context and subsequently a novel mutation in DCAF17 was detected. 31152917 2019
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature. 31472064 2019
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE The diagnosis of Woodhouse-Sakati Syndrome was eventually proposed and DCAF17 gene sequencing identified a novel likely pathogenic homozygous variant NG_013038.1(NM_025000.3):c.1091+2T>C. 31347785 2019
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 CausalMutation disease CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. 24464444 2014
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GermlineCausalMutation disease ORPHANET Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. 24464444 2014
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. 24015686 2014
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). 23418071 2013
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GermlineCausalMutation disease ORPHANET Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 21964978 2011
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the gene C2orf37 are the cause of Woodhouse-Sakati syndrome. 21963443 2011
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 21964978 2011
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 20507343 2010
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GermlineCausalMutation disease ORPHANET C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 20507343 2010
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease CLINVAR C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 20507343 2010
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 20507343 2010
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease CLINVAR Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GeneticVariation disease BEFREE Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 CausalMutation disease CLINVAR Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 GermlineCausalMutation disease ORPHANET Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 Biomarker disease CTD_human
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND