Xeroderma Pigmentosum, Complementation Group D disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group D

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group D:

IMPROVED

Name: Xeroderma Pigmentosum, Complementation Group D ⁵⁷ ⁵³ ⁷¹

Xeroderma Pigmentosum, Group D ⁵⁷ ²⁸ ¹² ⁵

Xeroderma Pigmentosum Iv ⁵⁷ ¹¹ ⁷³

Xpdc ⁵⁷ ¹¹ ⁷³

Xeroderma Pigmentosum Group D ¹¹ ¹⁴

Xeroderma Pigmentosum Viii ¹¹ ⁷³

Xp Group D ¹¹ ⁷³

Xp Group H ¹¹ ⁷³

Xpd ⁵⁷ ¹¹

Xp4 ¹¹ ⁷³

Xp8 ¹¹ ⁷³

Xph ¹¹ ⁷³

Xeroderma Pigmentosum Complementation Group D ⁷³

Xp4 Xeroderma Pigmentosum Viii, Formerly ⁵⁷

Xp, Group H, Formerly ⁵⁷

Xp8, Formerly ⁵⁷

Xph, Formerly ⁵⁷

Xp, Group D ⁵⁷

Xp-D/cs ⁷³

Xp-D ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Miscellaneous:
later onset of neurologic features

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Xeroderma pigmentosum

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Summaries for Xeroderma Pigmentosum, Complementation Group D

UniProtKB/Swiss-Prot: ⁷³ 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 and skin carcinoma, and has symptoms including ataxia, muscle spasticity and photophobia. 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 Homology Directed Repair and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include skin, eye and lung, and related phenotypes are corneal neovascularization and keratoconjunctivitis sicca

OMIM®: ⁵⁷ 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) (Updated 24-Oct-2022)

Disease Ontology: ¹¹ A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

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Related Diseases for Xeroderma Pigmentosum, Complementation Group D

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 245)

#	Related Disease	Score	Top Affiliating Genes
1	cerebrooculofacioskeletal syndrome	31.4	XPA GTF2H5 ERCC3 ERCC2 ERCC1
2	skin carcinoma	30.4	XRCC3 XPA ERCC3 ERCC2
3	xeroderma pigmentosum, complementation group a	30.4	XRCC1 XPA ERCC3 ERCC2 ERCC1
4	fanconi anemia, complementation group j	30.3	RTEL1 DDX11 BRIP1
5	cerebrooculofacioskeletal syndrome 1	30.3	ERCC3 ERCC2 ERCC1
6	trichothiodystrophy 1, photosensitive	30.3	GTF2H5 ERCC3 ERCC2
7	trichothiodystrophy 3, photosensitive	30.1	GTF2H5 ERCC3 ERCC2
8	parkinsonism with spasticity, x-linked	30.1	ERCC3 ERCC2 BRIP1
9	xeroderma pigmentosum-cockayne syndrome complex	30.0	ERCC3 ERCC2
10	hereditary breast ovarian cancer syndrome	29.9	XRCC3 XRCC1 ERCC2 ERCC1 BRIP1
11	uv-sensitive syndrome	29.9	XPA OGG1 GTF2H5 ERCC3 ERCC2 ERCC1
12	skin benign neoplasm	29.8	XPA ERCC3 ERCC2
13	xeroderma pigmentosum, complementation group c	29.8	XRCC1 XPA ERCC3 ERCC2 ERCC1
14	tobacco addiction	29.7	XRCC1 GSTP1 GSTM1
15	cockayne syndrome b	29.7	XPA OGG1 ERCC3 ERCC2 ERCC1
16	cataract	29.7	XRCC1 OGG1 GSTP1 GSTM1 ERCC2
17	xeroderma pigmentosum, complementation group b	29.5	XPA GTF2H5 ERCC3 ERCC2 ERCC1 CCNH
18	basal cell carcinoma	29.5	XRCC3 XRCC1 XPA GSTP1 GSTM1 ERCC2
19	warsaw breakage syndrome	29.5	RTEL1 ERCC2 DDX11 BRIP1
20	bladder cancer	29.4	XRCC3 XRCC1 OGG1 GSTP1 GSTM1 ERCC2
21	childhood acute lymphocytic leukemia	29.4	XRCC1 GSTP1 GSTM1
22	xeroderma pigmentosum, variant type	29.2	XRCC3 XRCC1 XPA OGG1 GTF2H5 ERCC3
23	cockayne syndrome	29.2	XPA OGG1 ERCC3 ERCC2 ERCC1 CDK7
24	xeroderma pigmentosum, complementation group g	28.4	XRCC3 XRCC1 XPA OGG1 GTF2H5 ERCC3
25	fanconi anemia, complementation group a	28.4	XRCC3 XRCC1 XPA RTEL1 GTF2H5 GSTP1
26	trichothiodystrophy	27.9	XRCC1 XPA SRSF1 RTEL1 OGG1 GTF2H5
27	cerebrooculofacioskeletal syndrome 2	11.0
28	lung cancer	10.6
29	esophageal cancer	10.4
30	squamous cell carcinoma	10.4
31	small cell cancer of the lung	10.3
32	breast cancer	10.3
33	leukemia, acute myeloid	10.3
34	acute myeloid leukemia with recurrent genetic anomaly	10.3
35	photoparoxysmal response 1	10.3
36	ovarian cancer	10.3
37	ovarian cancer 1	10.3
38	lung cancer susceptibility 1	10.3
39	head and neck cancer	10.3
40	ichthyosis	10.3
41	progressive non-infectious anterior vertebral fusion	10.3
42	squamous cell carcinoma, head and neck	10.2
43	myeloid leukemia	10.2
44	trichothiodystrophy 2, photosensitive	10.2	ERCC3 ERCC2
45	basal cell carcinoma 1	10.2
46	adenocarcinoma	10.2
47	esophagus squamous cell carcinoma	10.2
48	colorectal cancer	10.2
49	gastric cancer	10.2
50	leukemia	10.2

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

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Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group D

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

³⁰ (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	corneal neovascularization ³⁰	Occasional (7.5%)	HP:0011496
2	keratoconjunctivitis sicca ³⁰	Occasional (7.5%)	HP:0001097
3	cutaneous photosensitivity ³⁰	Very rare (1%)	HP:0000992
4	intellectual disability ³⁰		HP:0001249
5	spasticity ³⁰		HP:0001257
6	ataxia ³⁰		HP:0001251
7	cataract ³⁰		HP:0000518
8	microcephaly ³⁰		HP:0000252
9	sensorineural hearing impairment ³⁰		HP:0000407
10	photophobia ³⁰		HP:0000613
11	melanoma ³⁰		HP:0002861
12	microphthalmia ³⁰		HP:0000568
13	mental deterioration ³⁰		HP:0001268
14	conjunctivitis ³⁰		HP:0000509
15	keratitis ³⁰		HP:0000491
16	hyporeflexia ³⁰		HP:0001265
17	ectropion ³⁰		HP:0000656
18	choreoathetosis ³⁰		HP:0001266
19	poikiloderma ³⁰		HP:0001029
20	telangiectasia ³⁰		HP:0001009
21	dermal atrophy ³⁰		HP:0004334
22	entropion ³⁰		HP:0000621
23	defective dna repair after ultraviolet radiation damage ³⁰		HP:0003079

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Neurologic Central Nervous System:
spasticity
ataxia
mental deterioration
hyporeflexia
choreoathetosis
more

Head And Neck Eyes:
photophobia
conjunctivitis
keratitis
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:
poikiloderma
telangiectasia
skin atrophy
keratoacanthomas
skin photosensitivity
more

Head And Neck Ears:
sensorineural deafness

Clinical features from OMIM®:

278730 (Updated 24-Oct-2022)

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:

ataxia; muscle spasticity; photophobia

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	BRIP1 CCNH CDK7 CIAO1 CIAO2B DDX11
2	no effect	GR00402-S-2	10.18	BRIP1 CCNH CDK7 CIAO1 CIAO2B DDX11
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.83	XRCC1 XRCC3
4	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.83	BRIP1 ERCC1 XRCC1 XRCC3
5	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.83	CCNH CDK7 ERCC1 ERCC2 ERCC3 GTF2H5

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10	BRIP1 DDX11 ERCC1 ERCC2 ERCC3 GSTM1
2	neoplasm	MP:0002006	9.97	BRIP1 ERCC1 ERCC2 ERCC3 GSTP1 OGG1
3	growth/size/body region	MP:0005378	9.93	BRIP1 CDK7 CIAO2B DDX11 ERCC1 ERCC2
4	cellular	MP:0005384	9.73	BRIP1 CDK7 DDX11 ERCC1 ERCC2 ERCC3
5	mortality/aging	MP:0010768	9.44	CDK7 CIAO2B DDX11 ERCC1 ERCC2 ERCC3

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Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group D

Search Clinical Trials, NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group D

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Genetic Tests for Xeroderma Pigmentosum, Complementation Group D

Genetic tests related to Xeroderma Pigmentosum, Complementation Group D:

#	Genetic test	Affiliating Genes
1	Xeroderma Pigmentosum, Group D ²⁸	ERCC2

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Anatomical Context for Xeroderma Pigmentosum, Complementation Group D

Organs/tissues related to Xeroderma Pigmentosum, Complementation Group D:

MalaCards : Skin, Eye, Lung, Prostate, Breast, Myeloid, Smooth Muscle

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Publications for Xeroderma Pigmentosum, Complementation Group D

Articles related to Xeroderma Pigmentosum, Complementation Group D:

(show top 50) (show all 394)

#	Title	Authors	PMID	Year
1	Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. ⁵³ ⁶² ⁵⁷ ⁵	Kobayashi T...Tanaka K	9101292	1997
2	Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. ⁶² ⁵⁷ ⁵	Broughton BC...Lehmann AR	11709541	2001
3	Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. ⁶² ⁵⁷ ⁵	Frederick GD...Friedberg EC	7849702	1994
4	Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. ⁵³ ⁶² ⁵	Takayama K...Weber CA	7585650	1995
5	A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D. ⁶² ⁵	Bui CB...Hoang MV	32047639	2020
6	Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis. ⁶² ⁵	Ben Rekaya M...Abdelhak S	29169765	2018
7	Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS. ⁶² ⁵	Horibata K...Tanaka K	25716912	2015
8	A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer. ⁶² ⁵	Stettler K...Suter B	25431422	2015
9	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. ⁶² ⁵	Schafer A...Emmert S	23800062	2013
10	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). ⁶² ⁵	Lai JP...Kraemer KH	24252196	2013
11	Selective regulation of vitamin D receptor-responsive genes by TFIIH. ⁶² ⁵	Drane P...Egly JM	15494306	2004
12	Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. ⁶² ⁵	Taylor EM...Lehmann AR	9238033	1997
13	DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. ⁶² ⁵	Takayama K...Weber CA	9195225	1997
14	Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. ⁶² ⁵	Takayama K...Weber CA	8571952	1996
15	The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. ⁶² ⁵⁷	Johnson RT...Squires S	1372108	1992
16	Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. ⁶² ⁵⁷	Flejter WL...Schultz RA	1729695	1992
17	Molecular cloning and characterization of a mammalian excision repair gene that partially restores UV resistance to xeroderma pigmentosum complementation group D cells. ⁶² ⁵⁷	Arrand JE...Johnson RT	2780557	1989
18	Lack of complementation between xeroderma pigmentosum complementation groups D and H. ⁶² ⁵⁷	Johnson RT...Joysey VC	2921028	1989
19	No apparent neurologic defect in a patient with xeroderma pigmentosum complementation group D. ⁶² ⁵⁷	Ichihashi M...Fujiwara Y	3341805	1988
20	Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer-prone disease, xeroderma pigmentosum. ⁶² ⁵⁷	Seetharam S...Kraemer KH	3680516	1987
21	Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. ⁶² ⁵⁷	Stefanini M...Nuzzo F	3770739	1986
22	Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. ⁵	Stranneheim H...Wedell A	33726816	2021
23	Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. ⁵	Nykamp K...Topper S	28492532	2017
24	Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. ⁵	Rump A...Klink B	27504877	2016
25	Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. ⁵	Calmels N...Laugel V	27004399	2016
26	Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. ⁵	Fassihi H...Lehmann AR	26884178	2016
27	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ⁵	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
28	Differences in clinical phenotype among patients with XP complementation group D: 3D structure and ATP-docking of XPD in silico. ⁵	Nakano E...Nishigori C	24418926	2014
29	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. ⁵	Bodian DL...Niederhuber JE	24728327	2014
30	Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. ⁵	Zhou X...Kraemer KH	23232694	2013
31	XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression. ⁵	Orioli D...Stefanini M	23221806	2013
32	A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. ⁵	Falik-Zaccai TC...Hanawalt PC	22826098	2012
33	Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta. ⁵	Moslehi R...Dzutsev A	22234153	2012
34	TFIIH: when transcription met DNA repair. ⁵	Compe E...Egly JM	22572993	2012
35	Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl. ⁵	Zhou X...DiGiovanna JJ	20633800	2010
36	Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). ⁵	Emmert S...Kraemer KH	18637129	2009
37	Structure of the DNA repair helicase XPD. ⁵	Liu H...White MF	18510925	2008
38	XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. ⁵	Fan L...Tainer JA	18510924	2008
39	Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. ⁵	Dubaele S...Egly JM	12820975	2003
40	Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes. ⁵	Queille S...Daya-Grosjean L	11710928	2001
41	Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. ⁵	Graham JM...Jaspers NG	11443545	2001
42	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. ⁵	Botta E...Stefanini M	9758621	1998
43	Xeroderma pigmentosum complementation group H is withdrawn and reassigned to group D. ⁵⁷	Robbins JH	1757099	1991
44	No lack of complementation for unscheduled DNA synthesis between xeroderma pigmentosum complementation groups D and H. ⁵⁷	Robbins JH	2606486	1989
45	Structure, function and evolution of the XPD family of iron-sulfur-containing 5'-->3' DNA helicases. ⁵³ ⁶²	White MF	19442249	2009
46	DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. ⁵³ ⁶²	Batar B...Yildiz I	19101034	2009
47	MAD2 interacts with DNA repair proteins and negatively regulates DNA damage repair. ⁵³ ⁶²	Fung MK...Wang X	18597777	2008
48	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. ⁵³ ⁶²	Kertat K...Zhang H	18575735	2008
49	Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions. ⁵³ ⁶²	McCarty KM...Christiani DC	17470448	2007
50	Polymorphisms of DNA repair genes XRCC1 and XPD and risk of primary open angle glaucoma (POAG). ⁵³ ⁶²	Guven M...Sarici A	17242676	2007

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Genes for Xeroderma Pigmentosum, Complementation Group D

Genes related to Xeroderma Pigmentosum, Complementation Group D (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	1375.77	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	7585650 7849702 9101292 (more) 9238033 9758621 11443545 11709541 11710928 12820975 15494306 18510924 18510925 18637129 20633800 22826098 23800062 24252196 24418926 25431422 27004399 27504877 29169765 32047639 22572993 26884178 8033104 9426063 15982307 17470448 19442249 18575735 18597777 17242676 11319176 19101034 12706296 16981845
2	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	15.57	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15982307
3	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	7.68	DISEASES inferred ¹⁴
4	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	7.22	DISEASES inferred ¹⁴
5	XRCC3	X-Ray Repair Cross Complementing 3	Protein Coding	7.04	DISEASES inferred ¹⁴
6	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	6.49	DISEASES inferred ¹⁴
7	BRIP1	BRCA1 Interacting Helicase 1	Protein Coding	6.43	DISEASES inferred ¹⁴
8	CIAO2B	Cytosolic Iron-Sulfur Assembly Component 2B	Protein Coding	6.29	DISEASES inferred ¹⁴
9	OGG1	8-Oxoguanine DNA Glycosylase	Protein Coding	6.28	DISEASES inferred ¹⁴
10	DDX11	DEAD/H-Box Helicase 11	Protein Coding	6.08	DISEASES inferred ¹⁴
11	CIAO1	Cytosolic Iron-Sulfur Assembly Component 1	Protein Coding	5.92	DISEASES inferred ¹⁴
12	MMS19	MMS19 Homolog, Cytosolic Iron-Sulfur Assembly Component	Protein Coding	5.91	DISEASES inferred ¹⁴
13	GTF2H5	General Transcription Factor IIH Subunit 5	Protein Coding	5.88	DISEASES inferred ¹⁴
14	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	5.78	DISEASES inferred ¹⁴
15	GSTP1	Glutathione S-Transferase Pi 1	Protein Coding	5.61	DISEASES inferred ¹⁴
16	GSTM1	Glutathione S-Transferase Mu 1	Protein Coding	5.45	DISEASES inferred ¹⁴
17	CCNH	Cyclin H	Protein Coding	5.45	DISEASES inferred ¹⁴
18	CDK7	Cyclin Dependent Kinase 7	Protein Coding	5.43	DISEASES inferred ¹⁴
19	SRSF1	Serine And Arginine Rich Splicing Factor 1	Protein Coding	5.27	DISEASES inferred ¹⁴

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Variations for Xeroderma Pigmentosum, Complementation Group D

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

IMPROVED

⁵ (show top 50) (show all 147)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ERCC2	NM_000400.4(ERCC2):c.184-1G>T	SNV	Pathogenic	627440	rs1568546120	GRCh37: 19:45872251-45872251 GRCh38: 19:45368993-45368993
2	ERCC2	NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)	SNV	Pathogenic	627441	rs964247601	GRCh37: 19:45871950-45871950 GRCh38: 19:45368692-45368692
3	ERCC2	NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)	SNV	Pathogenic	627442	rs1568546252	GRCh37: 19:45872390-45872390 GRCh38: 19:45369132-45369132
4	ERCC2	NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter)	SNV	Pathogenic	16780	rs121913017	GRCh37: 19:45855481-45855481 GRCh38: 19:45352223-45352223
5	ERCC2	NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg)	SNV	Pathogenic	16783	rs121913019	GRCh37: 19:45858032-45858032 GRCh38: 19:45354774-45354774
6	ERCC2	NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)	SNV	Pathogenic	16791	rs121913025	GRCh37: 19:45860553-45860553 GRCh38: 19:45357295-45357295
7	ERCC2	NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)	INSERT	Pathogenic	1028729	rs1971844960	GRCh37: 19:45855803-45855804 GRCh38: 19:45352545-45352546
8	ERCC2	NM_000400.4(ERCC2):c.1759-2A>G	SNV	Pathogenic	1319438		GRCh37: 19:45856415-45856415 GRCh38: 19:45353157-45353157
9	ERCC2	NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)	SNV	Pathogenic	1319436		GRCh37: 19:45855826-45855826 GRCh38: 19:45352568-45352568
10	ERCC2	NM_000400.4(ERCC2):c.1007dup (p.Leu337fs)	DUP	Pathogenic	1319444		GRCh37: 19:45867111-45867112 GRCh38: 19:45363853-45363854
11	ERCC2	NM_000400.4(ERCC2):c.949+5G>A	SNV	Pathogenic	1685772		GRCh37: 19:45867239-45867239 GRCh38: 19:45363981-45363981
12	ERCC2	NM_000400.4(ERCC2):c.851del (p.Glu284fs)	DEL	Pathogenic	1685773		GRCh37: 19:45867342-45867342 GRCh38: 19:45364084-45364084
13	ERCC2	NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu)	INDEL	Pathogenic	16790		GRCh37: 19:45856511-45856513 GRCh38: 19:45353253-45353255
14	ERCC2	NM_000400.4(ERCC2):c.335G>A (p.Arg112His)	SNV	Pathogenic	16784	rs121913020	GRCh37: 19:45871913-45871913 GRCh38: 19:45368655-45368655
15	ERCC2	NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)	SNV	Pathogenic	16788	rs121913024	GRCh37: 19:45856060-45856060 GRCh38: 19:45352802-45352802
16	ERCC2	NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	SNV	Pathogenic	16792	rs121913026	GRCh37: 19:45855493-45855493 GRCh38: 19:45352235-45352235
17	ERCC2	NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	SNV	Pathogenic Pathogenic	329508	rs376556895	GRCh37: 19:45856059-45856059 GRCh38: 19:45352801-45352801
18	ERCC2	NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer)	DEL	Pathogenic	1322829		GRCh37: 19:45868096-45868099 GRCh38: 19:45364838-45364841
19	ERCC2	NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	SNV	Pathogenic Pathogenic	16793	rs41556519	GRCh37: 19:45855610-45855610 GRCh38: 19:45352352-45352352
20	ERCC2	NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	SNV	Pathogenic	264679	rs758439420	GRCh37: 19:45855609-45855609 GRCh38: 19:45352351-45352351
21	ERCC2	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	DEL	Pathogenic/Likely Pathogenic	134095	rs587778271	GRCh37: 19:45856554-45856555 GRCh38: 19:45353296-45353297
22	ERCC2	NM_000400.4(ERCC2):c.594+2_594+5del	DEL	Likely Pathogenic	402226	rs762309206	GRCh37: 19:45868091-45868094 GRCh38: 19:45364833-45364836
23	ERCC2	NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser)	SNV	Likely Pathogenic	523368	rs764868582	GRCh37: 19:45855577-45855577 GRCh38: 19:45352319-45352319
24	ERCC2	NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)	SNV	Likely Pathogenic	1329484		GRCh37: 19:45855838-45855838 GRCh38: 19:45352580-45352580
25	ERCC2	NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)	SNV	Likely Pathogenic	1162241		GRCh37: 19:45855800-45855800 GRCh38: 19:45352542-45352542
26	ERCC2	NM_000400.4(ERCC2):c.816-2A>G	SNV	Likely Pathogenic	631814	rs746795177	GRCh37: 19:45867379-45867379 GRCh38: 19:45364121-45364121
27	ERCC2	NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	SNV	Conflicting Interpretations Of Pathogenicity	16779	rs121913016	GRCh37: 19:45860626-45860626 GRCh38: 19:45357368-45357368
28	ERCC2	NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)	SNV	Conflicting Interpretations Of Pathogenicity	134114	rs142936491	GRCh37: 19:45868145-45868145 GRCh38: 19:45364887-45364887
29	ERCC2	NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	SNV	Conflicting Interpretations Of Pathogenicity	134102	rs144564120	GRCh37: 19:45855507-45855507 GRCh38: 19:45352249-45352249
30	ERCC2	NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)	SNV	Conflicting Interpretations Of Pathogenicity	329507	rs145835916	GRCh37: 19:45855905-45855905 GRCh38: 19:45352647-45352647
31	ERCC2	NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys)	SNV	Uncertain Significance	134101	rs201392911	GRCh37: 19:45855574-45855574 GRCh38: 19:45352316-45352316
32	ERCC2	NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)	SNV	Uncertain Significance	134100	rs34517175	GRCh37: 19:45855906-45855906 GRCh38: 19:45352648-45352648
33	ERCC2	NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)	SNV	Uncertain Significance	892655	rs144511865	GRCh37: 19:45856015-45856015 GRCh38: 19:45352757-45352757
34	ERCC2	NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile)	SNV	Uncertain Significance	892656	rs372960848	GRCh37: 19:45856039-45856039 GRCh38: 19:45352781-45352781
35	ERCC2	NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)	SNV	Uncertain Significance	709003	rs16979773	GRCh37: 19:45856040-45856040 GRCh38: 19:45352782-45352782
36	ERCC2	NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)	SNV	Uncertain Significance	546846	rs1799792	GRCh37: 19:45867799-45867799 GRCh38: 19:45364541-45364541
37	ERCC2	NM_000400.4(ERCC2):c.552G>C (p.Gly184=)	SNV	Uncertain Significance	750391	rs769750286	GRCh37: 19:45868138-45868138 GRCh38: 19:45364880-45364880
38	ERCC2	NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)	SNV	Uncertain Significance	893739	rs200756227	GRCh37: 19:45854923-45854923 GRCh38: 19:45351665-45351665
39	ERCC2	NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)	SNV	Uncertain Significance	893765	rs116544270	GRCh37: 19:45856533-45856533 GRCh38: 19:45353275-45353275
40	ERCC2	NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)	SNV	Uncertain Significance	893462	rs368708674	GRCh37: 19:45856357-45856357 GRCh38: 19:45353099-45353099
41	ERCC2	NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)	SNV	Uncertain Significance	738297	rs138038607	GRCh37: 19:45856383-45856383 GRCh38: 19:45353125-45353125
42	ERCC2	NM_000400.4(ERCC2):c.1377+8C>T	SNV	Uncertain Significance	708830	rs370862494	GRCh37: 19:45860724-45860724 GRCh38: 19:45357466-45357466
43	ERCC2	NM_000400.4(ERCC2):c.348T>C (p.Cys116=)	SNV	Uncertain Significance	893796	rs769231981	GRCh37: 19:45871900-45871900 GRCh38: 19:45368642-45368642
44	ERCC2	NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)	SNV	Uncertain Significance	329520	rs757790912	GRCh37: 19:45867247-45867247 GRCh38: 19:45363989-45363989
45	ERCC2	NM_000400.4(ERCC2):c.2190+11C>T	SNV	Uncertain Significance	894658	rs374737560	GRCh37: 19:45855456-45855456 GRCh38: 19:45352198-45352198
46	ERCC2	NM_000400.4(ERCC2):c.2128G>A (p.Val710Met)	SNV	Uncertain Significance	134104	rs141808167	GRCh37: 19:45855529-45855529 GRCh38: 19:45352271-45352271
47	ERCC2	NM_000400.4(ERCC2):c.156G>A (p.Leu52=)	SNV	Uncertain Significance	754097	rs202156896	GRCh37: 19:45872355-45872355 GRCh38: 19:45369097-45369097
48	ERCC2	NM_000400.4(ERCC2):c.57C>T (p.Pro19=)	SNV	Uncertain Significance	894711	rs369106754	GRCh37: 19:45873439-45873439 GRCh38: 19:45370181-45370181
49	ERCC2	NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn)	SNV	Uncertain Significance	804793	rs200443634	GRCh37: 19:45873490-45873490 GRCh38: 19:45370232-45370232
50	ERCC2	NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)	SNV	Uncertain Significance	1319434		GRCh37: 19:45854975-45854975 GRCh38: 19:45351717-45351717

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	rs1360631927
7	ERCC2	p.Asp234Asn	VAR_008188	rs1340806384
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

Sources

Expression for Xeroderma Pigmentosum, Complementation Group D

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

Sources

Pathways for Xeroderma Pigmentosum, Complementation Group D

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

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Homology Directed Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex ⁶⁶ DNA Double-Strand Break Repair ⁶⁶ DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Processing of DNA double-strand break ends ⁶⁶	13.03	BRIP1 CCNH CDK7 ERCC1 ERCC2 ERCC3
2	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁶ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁴ Crosstalk Between CARM1 and ESRs ⁶⁴ Eukaryotic transcription initiation ⁷⁴ HIV Transcription Initiation ⁶⁶ Protein Acetylation and Deacetylation ⁶⁴ RNA Polymerase II HIV Promoter Escape ⁶⁶ RNA Polymerase II Promoter Escape ⁶⁶ RNA Polymerase II Transcription Initiation ⁶⁶ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁶ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²² Transcription of mRNA ⁶⁴	12.75	GTF2H5 ERCC3 ERCC2 CDK7 CCNH
3	HIV Life Cycle ⁶⁶ Show member pathways 2-LTR circle formation ⁶⁶ APOBEC3G mediated resistance to HIV-1 infection ⁶⁶ Assembly Of The HIV Virion ⁶⁶ Binding and entry of HIV virion ⁶⁶ Early Phase of HIV Life Cycle ⁶⁶ HIV Infection ⁶⁶ Host Interactions of HIV factors ⁶⁶ Integration of provirus ⁶⁶ Late Phase of HIV Life Cycle ⁶⁶	12.75	GTF2H5 ERCC3 ERCC2 CDK7 CCNH
4	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.74	GTF2H5 ERCC3 ERCC2 CDK7 CCNH BRIP1
5	Transcription-Coupled Nucleotide Excision Repair (TC-NER) ⁶⁶ Show member pathways DNA Damage Recognition in GG-NER ⁶⁶ Dual incision in TC-NER ⁶⁶ Formation of Incision Complex in GG-NER ⁶⁶ Formation of TC-NER Pre-Incision Complex ⁶⁶ Gap-filling DNA repair synthesis and ligation in TC-NER ⁶⁶ Global Genome Nucleotide Excision Repair (GG-NER) ⁶⁶ Nucleotide Excision Repair ⁶⁶	12.7	CCNH CDK7 ERCC1 ERCC2 ERCC3 GTF2H5
6	Homologous DNA Pairing and Strand Exchange ⁶⁶ Show member pathways Defective Base Excision Repair Associated with NEIL1 ⁶⁶ Defective homologous recombination repair (HRR) due to BRCA2 loss of function ⁶⁶ Diseases of Base Excision Repair ⁶⁶ Diseases of DNA Double-Strand Break Repair ⁶⁶ Diseases of DNA repair ⁶⁶ Fanconi anemia pathway ⁶¹ Fanconi Anemia Pathway ⁶⁶ HDR through Homologous Recombination (HRR) ⁶⁶ HDR through Single Strand Annealing (SSA) ⁶⁶ Impaired BRCA2 binding to RAD51 ⁶⁶ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁶	12.54	XRCC3 RTEL1 OGG1 ERCC1 BRIP1
7	DNA Damage ³	12.45	XRCC1 XPA GSTP1 ERCC3 ERCC2 ERCC1
8	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ SREBP Proteolysis ⁶⁴	12.44	XRCC1 XPA OGG1 ERCC3 ERCC2 ERCC1
9	"DNA repair pathways, full network" ⁷⁴ Show member pathways Defective Mismatch Repair Associated With MSH2 ⁶⁶ Defective Mismatch Repair Associated With MSH3 ⁶⁶ Defective Mismatch Repair Associated With MSH6 ⁶⁶ Diseases of Mismatch Repair (MMR) ⁶⁶ Dual Incision in GG-NER ⁶⁶ Homologous recombination ⁷⁴ Mismatch Repair ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) ⁶⁶ Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) ⁶⁶ Non-homologous end joining ⁷⁴ Nucleotide excision repair ⁷⁴ Nucleotide excision repair in xeroderma pigmentosum ⁷⁴ Nucleotide Excision Repair Pathway ⁶⁴	12.21	XRCC1 XPA OGG1 GTF2H5 ERCC3 ERCC2
10	RNA Polymerase I Transcription Termination ⁶⁶ Show member pathways Assembly of RNA Polymerase-I Initiation Complex ⁶⁴ RNA Polymerase I Transcription Initiation ⁶⁶	11.75	GTF2H5 ERCC3 ERCC2 CDK7 CCNH
11	Transcription_P53 signaling pathway ²²	11.51	ERCC2 ERCC3 GTF2H5 XPA
12	"Platinum Pathway, Pharmacokinetics/Pharmacodynamics" ⁶⁰	11.1	XPA GSTP1 GSTM1 ERCC3 ERCC2 ERCC1
13	Retinoic acid receptors-mediated signaling ⁶¹ Show member pathways Vitamins A and D - action mechanisms ⁷⁴	10.98	CDK7 CCNH
14	Naphthalene metabolism ²²	10.92	GSTP1 GSTM1
15	Cytosolic iron-sulfur cluster assembly ⁶⁶	10.21	RTEL1 MMS19 ERCC2 CIAO2B CIAO1 BRIP1

Sources

GO Terms for Xeroderma Pigmentosum, Complementation Group D

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.7	BRIP1 CCNH CDK7 CIAO2B DDX11 ERCC1
2	nucleoplasm	GO:0005654	10.57	BRIP1 CCNH CDK7 CIAO2B DDX11 ERCC1
3	chromosome, telomeric region	GO:0000781	10.13	XRCC3 XRCC1 RTEL1 ERCC1
4	transcription factor TFIID complex	GO:0005669	9.99	GTF2H5 ERCC3 ERCC2
5	CIA complex	GO:0097361	9.8	MMS19 CIAO2B CIAO1
6	ERCC4-ERCC1 complex	GO:0070522	9.78	XRCC1 ERCC1
7	nucleotide-excision repair factor 1 complex	GO:0000110	9.76	ERCC1 XPA
8	MMXD complex	GO:0071817	9.76	CIAO1 CIAO2B ERCC2 MMS19
9	cyclin-dependent protein kinase activating kinase holoenzyme complex	GO:0019907	9.73	CCNH CDK7
10	CAK-ERCC2 complex	GO:0070516	9.73	ERCC2 CDK7 CCNH
11	transcription factor TFIIK complex	GO:0070985	9.71	CCNH CDK7
12	transcription factor TFIIH core complex	GO:0000439	9.65	GTF2H5 ERCC3 ERCC2 CDK7 CCNH
13	transcription factor TFIIH holo complex	GO:0005675	9.4	MMS19 GTF2H5 ERCC3 ERCC2 CDK7 CCNH

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

(show all 31)

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription by RNA polymerase II	GO:0006366	10.3	CCNH CDK7 ERCC2 ERCC3 GTF2H5
2	response to oxidative stress	GO:0006979	10.22	OGG1 ERCC3 ERCC2 ERCC1
3	chromosome segregation	GO:0007059	10.16	CIAO1 CIAO2B ERCC2 MMS19
4	transcription initiation at RNA polymerase II promoter	GO:0006367	10.13	GTF2H5 ERCC3 CDK7 CCNH
5	iron-sulfur cluster assembly	GO:0016226	10.07	MMS19 CIAO2B CIAO1
6	base-excision repair	GO:0006284	10.06	XRCC1 XPA OGG1
7	DNA duplex unwinding	GO:0032508	10.06	RTEL1 ERCC3 ERCC2 DDX11 BRIP1
8	UV protection	GO:0009650	10.01	ERCC1 ERCC2 ERCC3 XPA
9	nucleotide-excision repair	GO:0006289	10	BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5 MMS19
10	protein maturation by iron-sulfur cluster transfer	GO:0097428	9.99	CIAO1 CIAO2B MMS19
11	DNA recombination	GO:0006310	9.95	XRCC3 RTEL1 ERCC1
12	t-circle formation	GO:0090656	9.95	XRCC3 ERCC1
13	phosphorylation of RNA polymerase II C-terminal domain	GO:0070816	9.95	GTF2H5 CDK7 CCNH
14	UV-damage excision repair	GO:0070914	9.94	XPA ERCC1
15	regulation of mitotic cell cycle phase transition	GO:1901990	9.94	ERCC3 ERCC2
16	hepoxilin biosynthetic process	GO:0051122	9.93	GSTP1 GSTM1
17	transcription-coupled nucleotide-excision repair	GO:0006283	9.93	ERCC3 ERCC2
18	hair cell differentiation	GO:0035315	9.92	ERCC2 ERCC3
19	glutathione derivative biosynthetic process	GO:1901687	9.91	GSTP1 GSTM1
20	transcription elongation by RNA polymerase I	GO:0006362	9.91	GTF2H5 ERCC2
21	cellular response to DNA damage stimulus	GO:0006974	9.89	BRIP1 CDK7 DDX11 ERCC1 ERCC2 ERCC3
22	negative regulation of protection from non-homologous end joining at telomere	GO:1905765	9.88	XRCC1 ERCC1
23	telomeric DNA-containing double minutes formation	GO:0061819	9.87	XRCC1 ERCC1
24	DNA metabolic process	GO:0006259	9.87	XRCC3 RTEL1 MMS19 ERCC2 DDX11 BRIP1
25	telomeric loop disassembly	GO:0090657	9.85	XRCC3 RTEL1
26	nucleobase-containing compound metabolic process	GO:0006139	9.8	RTEL1 ERCC2 DDX11 BRIP1
27	cellular component organization	GO:0016043	9.73	RTEL1 ERCC2 DDX11 BRIP1
28	nucleotide-excision repair, DNA incision	GO:0033683	9.73	XPA OGG1 ERCC3 ERCC2
29	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.71	ERCC3 ERCC2
30	nucleic acid metabolic process	GO:0090304	9.67	RTEL1 ERCC2 DDX11 BRIP1
31	DNA repair	GO:0006281	9.66	XRCC3 XRCC1 XPA RTEL1 OGG1 MMS19

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	10.34	BRIP1 DDX11 ERCC1 ERCC2 ERCC3 OGG1
2	ATP hydrolysis activity	GO:0016887	10.18	RTEL1 ERCC3 ERCC2 DDX11 BRIP1
3	protein C-terminus binding	GO:0008022	10.11	ERCC3 ERCC2 ERCC1 CDK7
4	nucleotide binding	GO:0000166	10.07	XRCC3 RTEL1 ERCC3 ERCC2 DDX11 CDK7
5	4 iron, 4 sulfur cluster binding	GO:0051539	10.01	RTEL1 ERCC2 DDX11 BRIP1
6	nucleic acid binding	GO:0003676	9.98	BRIP1 DDX11 ERCC2 RTEL1 SRSF1 XPA
7	DNA helicase activity	GO:0003678	9.81	RTEL1 ERCC3 ERCC2 DDX11 BRIP1
8	5'-3' DNA helicase activity	GO:0043139	9.8	ERCC2 DDX11 BRIP1
9	3' overhang single-stranded DNA endodeoxyribonuclease activity	GO:1990599	9.76	XRCC1 ERCC1
10	helicase activity	GO:0004386	9.73	BRIP1 DDX11 ERCC2 ERCC3 RTEL1
11	damaged DNA binding	GO:0003684	9.7	XRCC1 XPA OGG1 ERCC3 ERCC2 ERCC1
12	iron-sulfur cluster binding	GO:0051536	9.67	RTEL1 ERCC2 DDX11 BRIP1
13	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	8.92	RTEL1 ERCC2 DDX11 BRIP1

Sources

Sources for Xeroderma Pigmentosum, Complementation Group D

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

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⁸ Cosmic

⁹ dbSNP

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¹¹ Disease Ontology

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¹⁵ DrugBank

¹⁶ EFO

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

XPD MCID: XRD022 MIFTS: 56	Xeroderma Pigmentosum, Complementation Group D (XPD) Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Xeroderma Pigmentosum, Complementation Group D (XPD)

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group D

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group D:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Xeroderma Pigmentosum, Complementation Group D

Related Diseases for Xeroderma Pigmentosum, Complementation Group D

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

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

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

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group D

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:

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

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

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group D

Genetic Tests for Xeroderma Pigmentosum, Complementation Group D

Genetic tests related to Xeroderma Pigmentosum, Complementation Group D:

Anatomical Context for Xeroderma Pigmentosum, Complementation Group D

Organs/tissues related to Xeroderma Pigmentosum, Complementation Group D:

Publications for Xeroderma Pigmentosum, Complementation Group D

Articles related to Xeroderma Pigmentosum, Complementation Group D:

Genes for Xeroderma Pigmentosum, Complementation Group D

Genes related to Xeroderma Pigmentosum, Complementation Group D (1 elite genes):

Variations for Xeroderma Pigmentosum, Complementation Group D

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

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

Expression for Xeroderma Pigmentosum, Complementation Group D

Pathways for Xeroderma Pigmentosum, Complementation Group D

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

GO Terms for Xeroderma Pigmentosum, Complementation Group D

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

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

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

Sources for Xeroderma Pigmentosum, Complementation Group D