Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation CLINVAR Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. 27504877

2016

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178

2016

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). 24252196

2013

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes. 23800062

2013

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation CLINVAR Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. 20633800

2010

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 18637129

2009

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 12820975

2003

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 11710928

2001

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 GeneticVariation CLINVAR Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 11709541

2001

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Xeroderma Pigmentosum, Complementation Group D
1.000 CausalMutation CLINVAR Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033

1997

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes
0.900 GeneticVariation CLINVAR

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.700 Biomarker HPO

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Cerebrooculofacioskeletal Syndrome 2
0.700 GeneticVariation CLINVAR

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Cerebrooculofacioskeletal Syndrome 2
0.700 CausalMutation CLINVAR

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
0.700 CausalMutation CLINVAR

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
0.700 GeneticVariation CLINVAR

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker HPO

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
Cerebrooculofacioskeletal Syndrome 1
0.430 CausalMutation CLINVAR

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0.400 GeneticVariation CLINVAR Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 7920640

1994

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.200 GeneticVariation GWASCAT Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. 23108145

2013

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.170 Biomarker HPO

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.120 Biomarker HPO

Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C0086543
Disease: Cataract
Cataract
0.120 Biomarker HPO