×
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
Trichothiodystrophy Syndromes
0.900
GeneticVariation
CLINVAR
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
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
Photosensitive Trichothiodystrophy
0.700
CausalMutation
CLINVAR
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
Photosensitive Trichothiodystrophy
0.700
GeneticVariation
CLINVAR
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
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
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
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
Carcinoma, Basal Cell
0.170
Biomarker
HPO
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
Neutropenia
0.120
Biomarker
HPO
×
Entrez Id:
2068
Gene Symbol:
ERCC2
ERCC2
Cataract
0.120
Biomarker
HPO