DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045038
rs797045038
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs879253799
rs879253799
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0002170
Disease:
Alopecia 		C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
dbSNP: rs879253799
rs879253799
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
dbSNP: rs879253799
rs879253799
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0013421
Disease:
Dystonia 		C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
dbSNP: rs879253799
rs879253799
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C1384666
Disease:
hearing impairment 		C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
dbSNP: rs879253799
rs879253799
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0020619
Disease:
Hypogonadism 		C 0.700 CausalMutation CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
dbSNP: rs780493577
rs780493577
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		C 0.700 GeneticVariation CLINVAR C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 20507343 2010
dbSNP: rs780493577
rs780493577
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		C 0.700 GeneticVariation CLINVAR Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
dbSNP: rs797045038
rs797045038
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		T 0.700 CausalMutation CLINVAR Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 19026396 2008
dbSNP: rs1314048356
rs1314048356
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559245286
rs1559245286
Entrez Id: 79828;80067
Gene Symbol: METTL8;DCAF17
METTL8;DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1559264135
rs1559264135
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1559289651
rs1559289651
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs760978794
rs760978794
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs761229686
rs761229686
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863224865
rs863224865
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs868533593
rs868533593
Entrez Id: 79828;80067
Gene Symbol: METTL8;DCAF17
METTL8;DCAF17
CUI: C0342286
Disease:
Woodhouse Sakati syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs369447743
rs369447743
Entrez Id: 79828;80067
Gene Symbol: METTL8;DCAF17
METTL8;DCAF17
CUI: C0030552
Disease:
Paresis 		0.010 GeneticVariation BEFREE In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). 28821231 2017
dbSNP: rs369447743
rs369447743
Entrez Id: 79828;80067
Gene Symbol: METTL8;DCAF17
METTL8;DCAF17
CUI: C0151786
Disease:
Muscle Weakness 		0.010 GeneticVariation BEFREE In addition, our study revealed a novel missense mutation in PLA2G6 gene (c.3G > T:p.M1I) in one and half-year-old boy with muscle weakness and neurodevelopmental regression (speech, motor and cognition). 28821231 2017