Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.900 GermlineCausalMutation disease ORPHANET We conclude that the severity of the clinical features in TTD patients and the clinical outcome of differentially mutated XPD proteins is likely to depend both on the effects that each mutation has on the stability of TFIIH and on the transcriptional activity of the residual TFIIH complexes. 12393803 2002
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.430 GermlineCausalMutation disease ORPHANET 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
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		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
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		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
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399 2016
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease 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
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease CLINVAR Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease 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
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease CLINVAR Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. 11710928 2001
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease 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
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease CLINVAR Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 12820975 2003
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		1.000 CausalMutation disease 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
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 CausalMutation disease CGI
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 CausalMutation disease CLINVAR
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.600 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.600 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CGI
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		0.430 CausalMutation disease CLINVAR
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.400 CausalMutation disease CGI
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.360 CausalMutation disease CGI
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.310 CausalMutation disease CGI
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 CausalMutation disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 CausalMutation disease CGI
CUI: C0496930
Disease: Neoplasm of uncertain or unknown behavior of bladder
Neoplasm of uncertain or unknown behavior of bladder 		0.300 CausalMutation disease CGI