Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		0.300 GermlineCausalMutation disease ORPHANET A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation. 24700531 2014
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1 		0.300 GermlineCausalMutation disease ORPHANET First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.300 GermlineCausalMutation disease ORPHANET 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