Disease: Cerebrooculofacioskeletal Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913017
rs121913017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913019
rs121913019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121913025
rs121913025
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121913023
rs121913023
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		0.010 GeneticVariation BEFREE Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. 11443545 2001
dbSNP: rs121913024
rs121913024
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0220722
Disease:
Cerebrooculofacioskeletal Syndrome 1 		0.010 GeneticVariation BEFREE Here we report the first involvement of the XPD gene in a new case of UV-sensitive COFS syndrome, with heterozygous substitutions-a R616W null mutation (previously seen in patients in XP complementation group D) and a unique D681N mutation-demonstrating that a third gene can be involved in COFS syndrome. 11443545 2001