Disease: Cerebrooculofacioskeletal Syndrome 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913024
rs121913024
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1853102
Disease:
Cerebrooculofacioskeletal Syndrome 2 		0.800 GeneticVariation UNIPROT Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 11443545 2001
dbSNP: rs121913024
rs121913024
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1853102
Disease:
Cerebrooculofacioskeletal Syndrome 2 		A 0.800 CausalMutation CLINVAR