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XPD
MCID: XRD022
MIFTS: 57

Xeroderma Pigmentosum, Complementation Group D (XPD)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group D

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MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group D:

Name: Xeroderma Pigmentosum, Complementation Group D 56 54 39 71
Xeroderma Pigmentosum, Group D 56 29 13 6
Xeroderma Pigmentosum Iv 56 12 73
Xpdc 56 12 73
Xpd 56 12 15
Xeroderma Pigmentosum Group D 12 15
Xeroderma Pigmentosum Viii 12 73
Xp Group D 12 73
Xp Group H 12 73
Xp4 12 73
Xp8 12 73
Xph 12 73
Xp4 Xeroderma Pigmentosum Viii, Formerly; Xp8, Formerly 56
Xeroderma Pigmentosum Complementation Group D 73
Xp4 Xeroderma Pigmentosum Viii, Formerly 56
Xp, Group H, Formerly; Xph, Formerly 56
Xp, Group H, Formerly 56
Xp, Group D; Xpdc 56
Xp8, Formerly 56
Xph, Formerly 56
Xp, Group D 56
Xp-D/cs 73
Xp-D 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
later onset of neurologic features


HPO:

31
xeroderma pigmentosum, complementation group d:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


Sources

Summaries for Xeroderma Pigmentosum, Complementation Group D

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UniProtKB/Swiss-Prot : 73 Xeroderma pigmentosum complementation group D: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group D, also known as xeroderma pigmentosum, group d, is related to cerebrooculofacioskeletal syndrome 1 and cockayne syndrome b, and has symptoms including ataxia, photophobia and muscle spasticity. An important gene associated with Xeroderma Pigmentosum, Complementation Group D is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include skin, lung and breast, and related phenotypes are keratoconjunctivitis sicca and corneal neovascularization

Disease Ontology : 12 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

OMIM : 56 Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992). (278730)

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Related Diseases for Xeroderma Pigmentosum, Complementation Group D

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Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G Xeroderma Pigmentosum, Complementation Group B

Diseases related to Xeroderma Pigmentosum, Complementation Group D via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 cerebrooculofacioskeletal syndrome 1 32.6 ERCC6 ERCC5 ERCC2 ERCC1
2 cockayne syndrome b 32.3 ERCC6 ERCC1
3 cerebro-oculo-facio-skeletal syndrome 32.3 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
4 xeroderma pigmentosum, complementation group a 31.2 XRCC1 XPA RAD23B H2AC18 ERCC6 ERCC4
5 hutchinson-gilford progeria syndrome 30.6 XPA H2AC18 ERCC6 ERCC1
6 autosomal recessive disease 30.4 XRCC1 XPA H2AC18 GTF2H5 ERCC6 ERCC3
7 skin carcinoma 30.2 XRCC3 XPA H2AC18 ERCC6 ERCC3 ERCC2
8 basal cell carcinoma 30.2 XRCC3 XRCC1 XPA ERCC2 ERCC1 DDB2
9 xeroderma pigmentosum-cockayne syndrome complex 30.0 ERCC5 ERCC4 ERCC3 ERCC2
10 female breast cancer 29.9 XRCC1 ERCC5 ERCC4 ERCC2
11 breast disease 29.6 XRCC1 RAD23B H2AC18 ERCC5 ERCC4 ERCC2
12 fanconi anemia, complementation group a 29.3 XRCC3 XRCC1 XPA H2AC18 ERCC6 ERCC4
13 xeroderma pigmentosum, complementation group c 29.0 XRCC1 XPA RAD23B H2AC18 GTF2H3 GTF2H1
14 cockayne syndrome 28.2 XPA OGG1 GTF2H4 GTF2H3 GTF2H2 GTF2H1
15 xeroderma pigmentosum, variant type 28.2 XRCC3 XRCC1 XPA RAD23B OGG1 H2AC18
16 trichothiodystrophy 1, photosensitive 27.7 XRCC1 XPA RAD23B OGG1 H2AC18 GTF2H5
17 xeroderma pigmentosum, complementation group g 27.5 XRCC3 XRCC1 XPA RAD23B OGG1 H2AC18
18 xeroderma pigmentosum, complementation group b 27.3 XPA RAD23B H2AC18 GTF2H5 GTF2H4 GTF2H3
19 obsolete: xeroderma pigmentosum complementation group d 12.7
20 parkinsonism with spasticity, x-linked 11.9
21 warsaw breakage syndrome 11.5
22 lung cancer 10.6
23 nonphotosensitive trichothiodystrophy 10.4 GTF2H5 ERCC3
24 cataract 10.4
25 breast cancer 10.3
26 leukemia, acute myeloid 10.3
27 myeloid leukemia 10.3
28 esophageal cancer 10.3
29 fanconi anemia, complementation group j 10.3
30 melanoma 10.3
31 prostate cancer 10.3
32 hair disease 10.3 H2AC18 ERCC6 ERCC3
33 colorectal cancer 10.2
34 squamous cell carcinoma 10.2
35 adenocarcinoma 10.2
36 phlebotomus fever 10.2 GTF2H2 GTF2H1
37 bladder cancer 10.2
38 lung cancer susceptibility 1 10.2
39 ichthyosis 10.2
40 xeroderma pigmentosum, complementation group e 10.2 XPA ERCC5 DDB2
41 ocular cancer 10.2 XPA H2AC18 ERCC2
42 small cell cancer of the lung 10.2
43 nasopharyngeal carcinoma 10.2
44 leukemia, acute lymphoblastic 10.2
45 lymphocytic leukemia 10.2
46 lung benign neoplasm 10.2
47 oral cancer 10.2
48 premature aging 10.2
49 colon sarcoma 10.2 XRCC3 ERCC1
50 acoustic neuroma 10.2 ERCC5 ERCC4 ERCC2

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Complementation Group D:



Diseases related to Xeroderma Pigmentosum, Complementation Group D
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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group D

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Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 keratoconjunctivitis sicca 31 occasional (7.5%) HP:0001097
2 corneal neovascularization 31 occasional (7.5%) HP:0011496
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 ataxia 31 HP:0001251
6 cataract 31 HP:0000518
7 microcephaly 31 HP:0000252
8 sensorineural hearing impairment 31 HP:0000407
9 photophobia 31 HP:0000613
10 cutaneous photosensitivity 31 HP:0000992
11 melanoma 31 HP:0002861
12 keratitis 31 HP:0000491
13 microphthalmia 31 HP:0000568
14 mental deterioration 31 HP:0001268
15 hyporeflexia 31 HP:0001265
16 conjunctivitis 31 HP:0000509
17 choreoathetosis 31 HP:0001266
18 ectropion 31 HP:0000656
19 telangiectasia 31 HP:0001009
20 poikiloderma 31 HP:0001029
21 entropion 31 HP:0000621
22 dermal atrophy 31 HP:0004334
23 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
ataxia
mental deterioration
hyporeflexia
choreoathetosis
more
Head And Neck Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion
more
Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

Neoplasia:
early onset skin cancer (basal cell, squamous cell and malignant melanoma)

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM:

278730

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:


ataxia, photophobia, muscle spasticity

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group D according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.4 CDK7 GTF2H1
2 Decreased viability GR00221-A-4 10.4 CDK7 GTF2H1
3 Decreased viability GR00301-A 10.4 CDK7
4 Decreased viability GR00381-A-1 10.4 ERCC1 GTF2H2 GTF2H4
5 Decreased viability GR00402-S-2 10.4 CCNH CDK7 DDB2 ERCC1 ERCC2 ERCC3
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.13 CCNH CDK7 DDB2 ERCC1 ERCC2 ERCC3
7 no effect GR00402-S-1 9.96 CCNH CDK7 DDB2 ERCC1 ERCC2 ERCC3
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 XRCC1
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 XRCC1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 CDK7 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
2 mortality/aging MP:0010768 9.83 CDK7 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
3 integument MP:0010771 9.81 CDK7 DDB2 ERCC1 ERCC2 ERCC3 ERCC5
4 neoplasm MP:0002006 9.23 DDB2 ERCC1 ERCC2 ERCC3 ERCC6 OGG1
Sources

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group D

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Phase II Trial Of Adjuvant Chemotherapy For Urothelial Carcinoma Comparing GC To Dose-Dense MVAC Withdrawn NCT01639521 Phase 2 cisplatin;gemcitabine hydrochloride;methotrexate;vinblastine;doxorubicin hydrochloride
2 Application of Genetic Polymorphisms of DNA Repair in The Prediction of Prostate Cancer Susceptibility and Its Clinical Outcome Unknown status NCT00167024
3 DNA Repair Genes and Outcomes in Patients With Stage III NSCLC Unknown status NCT00797238

Search NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group D

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group D

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Genetic tests related to Xeroderma Pigmentosum, Complementation Group D:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group D 29 ERCC2
Sources

Anatomical Context for Xeroderma Pigmentosum, Complementation Group D

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Complementation Group D:

40
Skin, Lung, Breast, Myeloid, Prostate, Eye, B Cells
Sources

Publications for Xeroderma Pigmentosum, Complementation Group D

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Articles related to Xeroderma Pigmentosum, Complementation Group D:

(show top 50) (show all 264)
# Title Authors PMID Year
1
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 61 56 6
11709541 2001
2
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 54 56 6
9101292 1997
3
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. 61 56 6
7849702 1994
4
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. 54 61 6
7585650 1995
5
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 61 6
9238033 1997
6
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 61 6
9195225 1997
7
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 61 6
8571952 1996
8
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. 61 56
1372108 1992
9
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. 61 56
1729695 1992
10
Molecular cloning and characterization of a mammalian excision repair gene that partially restores UV resistance to xeroderma pigmentosum complementation group D cells. 61 56
2780557 1989
11
No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D. 61 56
3341805 1988
12
Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer-prone disease, xeroderma pigmentosum. 61 56
3680516 1987
13
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. 61 56
3770739 1986
14
Selective regulation of vitamin D receptor-responsive genes by TFIIH. 6
15494306 2004
15
Xeroderma Pigmentosum 6
20301571 2003
16
Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 6
11443545 2001
17
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. 6
9758621 1998
18
Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D. 56
1757099 1991
19
No lack of complementation for unscheduled DNA synthesis between xeroderma pigmentosum complementation groups D and H. 56
2606486 1989
20
Lack of complementation between xeroderma pigmentosum complementation groups D and H. 56
2921028 1989
21
Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. 54 61
19442249 2009
22
DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. 54 61
19101034 2009
23
MAD2 interacts with DNA repair proteins and negatively regulates DNA damage repair. 54 61
18597777 2008
24
The Gln/Gln genotype of XPD codon 751 as a genetic marker for melanoma risk and Lys/Gln as an important predictor for melanoma progression: a case control study in the Swedish population. 54 61
18575735 2008
25
Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions. 54 61
17470448 2007
26
Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG). 54 61
17242676 2007
27
Relationships between genetic polymorphisms and anticancer drug cytotoxicity vis-à-vis the NCI-60 panel. 54 61
16981845 2006
28
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features. 54 61
15982307 2005
29
Insulin and glucose regulate the expression of the DNA repair enzyme XPD. 54 61
12706296 2003
30
Associations between ERCC2 polymorphisms and gliomas. 54 61
11319176 2001
31
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. 54 61
9426063 1998
32
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells. 54 61
8033104 1994
33
Association of XPD Asp312Asn polymorphism and response to oxaliplatin-based first-line chemotherapy and survival in patients with metastatic colorectal cancer. 61
31756062 2019
34
Influence of functional variants Asp312Asn and Lys751Gln of Xeroderma Pigmentosum Group D (XPD) and Glutathione S-transferase Mu 1 (GSTM1) and Theta 1 (GSTT1) genes on cutaneous melanoma susceptibility and prognosis. 61
30883948 2019
35
Characterization of putative proteins encoded by variable ORFs in white spot syndrome virus genome. 61
30999895 2019
36
Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype. 61
30117619 2019
37
Gene polymorphism of DNA repair gene X-ray repair cross complementing group 1 and xeroderma pigmentosum group D and environment interaction in non-small-cell lung cancer for Chinese nonsmoking female patients. 61
30844146 2019
38
Silencing of Xeroderma Pigmentosum Group D Gene Promotes Hepatoma Cell Growth by Reducing P53 Expression. 61
30409962 2018
39
Xeroderma Pigmentosum Group D (XPD) Inhibits the Proliferation Cycle of Vascular Smooth Muscle Cell (VSMC) by Activating Glycogen Synthase Kinase 3β (GSK3β). 61
30146633 2018
40
Nucleotide Excision Repair Capacity and XPC and XPD Gene Polymorphism Modulate Colorectal Cancer Risk. 61
29793654 2018
41
Modulation of risk of squamous cell carcinoma head and neck in North Indian population with polymorphisms in xeroderma pigmentosum complementation Group C gene. 61
29893334 2018
42
Genetic polymorphisms may influence the vertical growth rate of melanoma. 61
30210630 2018
43
Contribution of DNA repair xeroderma pigmentosum group D genotypes to pancreatic cancer risk in the Chinese Han population. 61
29260835 2018
44
Role of Xeroderma Pigmentosum Group D in Cell Cycle and Apoptosis in Cutaneous Squamous Cell Carcinoma A431 Cells. 61
29362353 2018
45
Associations Between XPD Lys751Gln Polymorphism and Leukemia: A Meta-Analysis. 61
30100919 2018
46
Dynamics of DNA unwinding by helicases with frequent backward steps. 61
29024746 2017
47
Xeroderma pigmentosum complementation group D polymorphism toward lung cancer susceptibility survival and response in patients treated with platinum chemotherapy. 61
29035087 2017
48
Correlation of DNA Repair Gene Polymorphisms With Clinical Outcome in Patients With Locally Advanced Non-Small-Cell Lung Cancer Receiving Induction Chemotherapy Followed by Surgery. 61
27908619 2017
49
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing. 61
26993158 2016
50
Association between genetic polymorphisms in XPD and XRCC1 genes and risks of non-small cell lung cancer in East Chinese Han population. 61
25308691 2016
Sources

Variations for Xeroderma Pigmentosum, Complementation Group D

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ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group D:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ERCC2 NM_000400.3(ERCC2):c.2176C>T (p.Gln726Ter)SNV Pathogenic 16780 rs121913017 19:45855481-45855481 19:45352223-45352223
2 ERCC2 ERCC2, 4-BP DEL, NT668deletion Pathogenic 16782
3 ERCC2 NM_000400.3(ERCC2):c.1621A>C (p.Ser541Arg)SNV Pathogenic 16783 rs121913019 19:45858032-45858032 19:45354774-45354774
4 ERCC2 NM_000400.3(ERCC2):c.335G>A (p.Arg112His)SNV Pathogenic 16784 rs121913020 19:45871913-45871913 19:45368655-45368655
5 ERCC2 NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp)SNV Pathogenic 16788 rs121913024 19:45856060-45856060 19:45352802-45352802
6 ERCC2 ERCC2, 2-BP DEL, 1781TTdeletion Pathogenic 16789
7 ERCC2 ERCC2, 3-BP DEL/6-BP INS, NT1823indel Pathogenic 16790
8 ERCC2 NM_000400.3(ERCC2):c.1454T>C (p.Leu485Pro)SNV Pathogenic 16791 rs121913025 19:45860553-45860553 19:45357295-45357295
9 ERCC2 NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp)SNV Pathogenic 16792 rs121913026 19:45855493-45855493 19:45352235-45352235
10 ERCC2 NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly)SNV Pathogenic 134102 rs144564120 19:45855507-45855507 19:45352249-45352249
11 ERCC2 NM_000400.3(ERCC2):c.2048G>A (p.Arg683Gln)SNV Pathogenic 264679 rs758439420 19:45855609-45855609 19:45352351-45352351
12 ERCC2 NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro)SNV Pathogenic 329508 rs376556895 19:45856059-45856059 19:45352801-45352801
13 ERCC2 NM_000400.3(ERCC2):c.298G>T (p.Glu100Ter)SNV Pathogenic 627441 rs964247601 19:45871950-45871950 19:45368692-45368692
14 ERCC2 NM_000400.3(ERCC2):c.121G>T (p.Glu41Ter)SNV Pathogenic 627442 rs1568546252 19:45872390-45872390 19:45369132-45369132
15 ERCC2 NM_000400.3(ERCC2):c.184-1G>TSNV Pathogenic 627440 rs1568546120 19:45872251-45872251 19:45368993-45368993
16 ERCC2 NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp)SNV Pathogenic/Likely pathogenic 16793 rs41556519 19:45855610-45855610 19:45352352-45352352
17 ERCC2 NM_000400.3(ERCC2):c.1703_1704del (p.Phe568fs)deletion Likely pathogenic 134095 rs587778271 19:45856554-45856555 19:45353296-45353297
18 ERCC2 NM_000400.3(ERCC2):c.594+2_594+5deldeletion Likely pathogenic 402226 rs762309206 19:45868091-45868094 19:45364833-45364836
19 ERCC2 NM_000400.3(ERCC2):c.816-2A>GSNV Likely pathogenic 631814 rs746795177 19:45867379-45867379 19:45364121-45364121
20 ERCC2 NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val)SNV Conflicting interpretations of pathogenicity 16779 rs121913016 19:45860626-45860626 19:45357368-45357368
21 ERCC2 NM_000400.3(ERCC2):c.1905G>A (p.Ala635=)SNV Conflicting interpretations of pathogenicity 329507 rs145835916 19:45855905-45855905 19:45352647-45352647
22 ERCC2 NM_000400.3(ERCC2):c.183+2T>ASNV Uncertain significance 329529 rs201127596 19:45872326-45872326 19:45369068-45369068
23 ERCC2 NM_000400.3(ERCC2):c.946C>G (p.Gln316Glu)SNV Uncertain significance 329520 rs757790912 19:45867247-45867247 19:45363989-45363989
24 ERCC2 NM_000400.3(ERCC2):c.1887G>C (p.Gln629His)SNV Uncertain significance 134099 rs200665173 19:45856019-45856019 19:45352761-45352761
25 ERCC2 NM_000400.3(ERCC2):c.452_461del (p.Ser151fs)deletion Uncertain significance 631815 rs1568543189 19:45868316-45868325 19:45365058-45365067
26 ERCC1 NM_001983.4(ERCC1):c.422del (p.Leu141fs)deletion Uncertain significance 632314 rs1568585641 19:45923585-45923585 19:45420327-45420327
27 ERCC1 NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs)duplication Uncertain significance 632315 rs1231361408 19:45924633-45924634 19:45421375-45421376
28 ERCC2 NM_000400.4(ERCC2):c.1845G>A (p.Gly615=)SNV Likely benign 803568 19:45856061-45856061 19:45352803-45352803
29 ERCC2 NM_000400.3(ERCC2):c.934G>A (p.Asp312Asn)SNV Benign 134117 rs1799793 19:45867259-45867259 19:45364001-45364001

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Complementation Group D:

73 (show all 18)
# Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg112His VAR_003622 rs121913020
2 ERCC2 p.Leu461Val VAR_003623 rs121913016
3 ERCC2 p.Ser541Arg VAR_003625 rs121913019
4 ERCC2 p.Arg616Pro VAR_003626 rs376556895
5 ERCC2 p.Gly602Asp VAR_003627 rs771824813
6 ERCC2 p.Gly47Arg VAR_008187 rs136063192
7 ERCC2 p.Asp234Asn VAR_008188 rs134080638
8 ERCC2 p.Tyr542Cys VAR_008191
9 ERCC2 p.Arg601Leu VAR_008192 rs140522180
10 ERCC2 p.Arg616Trp VAR_008193 rs121913024
11 ERCC2 p.Arg683Gln VAR_008197 rs758439420
12 ERCC2 p.Arg683Trp VAR_008198 rs41556519
13 ERCC2 p.Thr76Ala VAR_017282
14 ERCC2 p.Leu485Pro VAR_017283 rs121913025
15 ERCC2 p.Arg511Gln VAR_017285 rs772572683
16 ERCC2 p.Arg601Trp VAR_017289 rs753641926
17 ERCC2 p.Arg666Trp VAR_017292 rs752510317
18 ERCC2 p.Asp681Asn VAR_017293 rs121913023

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Expression for Xeroderma Pigmentosum, Complementation Group D

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Complementation Group D.
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Pathways for Xeroderma Pigmentosum, Complementation Group D

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Pathways related to Xeroderma Pigmentosum, Complementation Group D according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Gene Expression 65
Show member pathways
 13.72 H2AC18 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
2
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 65
Show member pathways
 13.68 H2AC18 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
3
HIV Life Cycle 65
Show member pathways
 13.57 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
4
Formation of HIV-1 elongation complex containing HIV-1 Tat 65
Show member pathways
 13.27 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
5
RNA Polymerase II Transcription Initiation And Promoter Clearance 65
Show member pathways
 12.99 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
6
Regulation of TP53 Activity 65
Show member pathways
 12.97 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
7
Chks in Checkpoint Regulation 63
Show member pathways
 12.68 XRCC1 XPA RAD23B OGG1 GTF2H3 GTF2H2
8
Transcription-Coupled Nucleotide Excision Repair (TC-NER) 65
Show member pathways
 12.62 XRCC1 XPA RAD23B GTF2H5 GTF2H4 GTF2H3
9
DNA Double-Strand Break Repair 65
Show member pathways
 12.6 XRCC3 XRCC1 XPA RAD23B OGG1 GTF2H5
10
DNA Damage 4
12.54 XRCC1 XPA RAD23B ERCC4 ERCC3 ERCC2
11
Viral carcinogenesis 36
12.14 GTF2H4 GTF2H3 GTF2H2 GTF2H1
12
Nucleotide excision repair 36
Show member pathways
 12.12 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
13
RNA Polymerase I Promoter Escape 65
Show member pathways
 12.07 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
14
Transcription_P53 signaling pathway 22
11.77 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
15
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60
11.34 XPA ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group D

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Cellular components related to Xeroderma Pigmentosum, Complementation Group D according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.32 XRCC3 XRCC1 XPA RAD23B OGG1 H2AC18
2 nucleoplasm GO:0005654 10.23 XRCC3 XRCC1 XPA RAD23B OGG1 GTF2H5
3 nuclear chromosome, telomeric region GO:0000784 9.8 XRCC3 XRCC1 ERCC4 ERCC1
4 transcription factor TFIIH core complex GO:0000439 9.7 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
5 nucleotide-excision repair complex GO:0000109 9.63 ERCC5 ERCC4 ERCC1
6 ERCC4-ERCC1 complex GO:0070522 9.61 XRCC1 ERCC4 ERCC1
7 core TFIIH complex portion of holo TFIIH complex GO:0000438 9.58 GTF2H4 GTF2H3 GTF2H2
8 transcription factor TFIID complex GO:0005669 9.56 GTF2H5 GTF2H4 GTF2H3 GTF2H2 ERCC4 ERCC3
9 DNA replication factor A complex GO:0005662 9.54 XPA ERCC5
10 nucleotide-excision repair factor 1 complex GO:0000110 9.54 XPA ERCC4 ERCC1
11 transcriptional preinitiation complex GO:0097550 9.52 GTF2H3 ERCC3
12 cyclin-dependent protein kinase activating kinase holoenzyme complex GO:0019907 9.51 CDK7 CCNH
13 transcription factor TFIIK complex GO:0070985 9.48 CDK7 CCNH
14 transcription factor TFIIH holo complex GO:0005675 9.28 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3

Biological processes related to Xeroderma Pigmentosum, Complementation Group D according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 10.28 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
2 global genome nucleotide-excision repair GO:0070911 10.26 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
3 transcription initiation from RNA polymerase II promoter GO:0006367 10.24 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
4 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.23 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
5 7-methylguanosine mRNA capping GO:0006370 10.21 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
6 transcription elongation from RNA polymerase I promoter GO:0006362 10.21 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
7 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.21 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
8 transcription elongation from RNA polymerase II promoter GO:0006368 10.2 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
9 termination of RNA polymerase I transcription GO:0006363 10.19 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
10 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.19 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
11 transcription initiation from RNA polymerase I promoter GO:0006361 10.18 GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3
12 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.18 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2 GTF2H1
13 nucleotide-excision repair, DNA incision GO:0033683 10.18 XPA OGG1 GTF2H5 GTF2H4 GTF2H3 GTF2H2
14 response to UV GO:0009411 10.17 XPA GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
15 nucleotide-excision repair, preincision complex assembly GO:0006294 10.13 XPA RAD23B GTF2H5 GTF2H4 GTF2H3 GTF2H2
16 nucleotide-excision repair GO:0006289 10.1 XPA RAD23B OGG1 GTF2H5 GTF2H4 GTF2H3
17 protein phosphorylation GO:0006468 10.08 GTF2H2 ERCC3 ERCC2 CDK7 CCNH
18 response to oxidative stress GO:0006979 10.08 XPA OGG1 ERCC6 ERCC3 ERCC2 ERCC1
19 UV protection GO:0009650 10.05 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
20 transcription-coupled nucleotide-excision repair GO:0006283 10.03 XRCC1 XPA GTF2H5 GTF2H4 GTF2H3 GTF2H2
21 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 10 GTF2H5 GTF2H4 GTF2H3 GTF2H1 CCNH
22 multicellular organism growth GO:0035264 9.94 XPA ERCC6 ERCC2 ERCC1
23 base-excision repair GO:0006284 9.93 XRCC1 XPA OGG1 ERCC6
24 embryonic organ development GO:0048568 9.92 RAD23B ERCC3 ERCC2 ERCC1
25 cellular response to DNA damage stimulus GO:0006974 9.91 XRCC3 XRCC1 XPA RAD23B OGG1 GTF2H5
26 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.87 ERCC5 ERCC4 ERCC1
27 double-strand break repair via homologous recombination GO:0000724 9.85 XRCC3 XRCC1 ERCC4
28 DNA duplex unwinding GO:0032508 9.85 ERCC6 ERCC3 ERCC2
29 double-strand break repair via nonhomologous end joining GO:0006303 9.85 XRCC1 ERCC4 ERCC1
30 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.84 GTF2H1 CDK7 CCNH
31 interstrand cross-link repair GO:0036297 9.83 XRCC3 ERCC4 ERCC1
32 nucleotide-excision repair, DNA damage recognition GO:0000715 9.82 XPA RAD23B DDB2
33 UV-damage excision repair GO:0070914 9.81 XPA ERCC1 DDB2
34 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.79 XRCC1 ERCC4 ERCC1
35 telomeric DNA-containing double minutes formation GO:0061819 9.79 XRCC1 ERCC4 ERCC1
36 response to X-ray GO:0010165 9.69 ERCC6 ERCC1
37 t-circle formation GO:0090656 9.68 XRCC3 ERCC1
38 single strand break repair GO:0000012 9.67 XRCC1 ERCC6
39 hair cell differentiation GO:0035315 9.66 ERCC3 ERCC2
40 pyrimidine dimer repair GO:0006290 9.66 ERCC6 DDB2
41 negative regulation of telomere maintenance GO:0032205 9.65 ERCC4 ERCC1
42 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 XPA ERCC4
43 DNA repair GO:0006281 9.58 XRCC3 XRCC1 XPA RAD23B OGG1 GTF2H5

Molecular functions related to Xeroderma Pigmentosum, Complementation Group D according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 XRCC3 XRCC1 XPA RAD23B OGG1 GTF2H5
2 DNA binding GO:0003677 10.2 XRCC3 XPA OGG1 H2AC18 ERCC6 ERCC5
3 protein kinase activity GO:0004672 9.95 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3 ERCC2
4 protein C-terminus binding GO:0008022 9.85 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1 CDK7
5 single-stranded DNA binding GO:0003697 9.81 RAD23B ERCC5 ERCC4 ERCC1
6 endonuclease activity GO:0004519 9.8 OGG1 ERCC5 ERCC4 ERCC1
7 protein N-terminus binding GO:0047485 9.8 GTF2H3 GTF2H2 ERCC6 ERCC5 ERCC4 ERCC3
8 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.76 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC3 ERCC2
9 nuclease activity GO:0004518 9.74 ERCC5 ERCC4 ERCC1
10 DNA helicase activity GO:0003678 9.7 ERCC6 ERCC3 ERCC2
11 RNA polymerase II general transcription initiation factor activity GO:0016251 9.61 GTF2H4 GTF2H3 GTF2H2
12 damaged DNA binding GO:0003684 9.61 XRCC1 XPA RAD23B OGG1 ERCC4 ERCC3
13 endodeoxyribonuclease activity GO:0004520 9.56 ERCC5 ERCC4
14 TFIID-class transcription factor complex binding GO:0001094 9.55 ERCC4 ERCC1
15 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.54 ERCC4 ERCC1
16 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 XRCC1 ERCC4 ERCC1
17 DNA-dependent ATPase activity GO:0008094 9.32 XRCC3 GTF2H4 GTF2H3 GTF2H2 GTF2H1 ERCC6
Sources

Sources for Xeroderma Pigmentosum, Complementation Group D

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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