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:

Name: Xeroderma Pigmentosum, Complementation Group D ⁵⁷ ⁵⁵ ⁴⁰ ⁷³

Xeroderma Pigmentosum, Group D ⁵⁷ ²⁹ ¹³ ⁶

Xeroderma Pigmentosum Iv ⁵⁷ ¹² ⁷⁵

Xpdc ⁵⁷ ¹² ⁷⁵

Xpd ⁵⁷ ¹² ¹⁵

Xeroderma Pigmentosum Group D ¹² ¹⁵

Xeroderma Pigmentosum Viii ¹² ⁷⁵

Xp Group D ¹² ⁷⁵

Xp Group H ¹² ⁷⁵

Xp4 ¹² ⁷⁵

Xp8 ¹² ⁷⁵

Xph ¹² ⁷⁵

Xp4 Xeroderma Pigmentosum Viii, Formerly; Xp8, Formerly ⁵⁷

Xeroderma Pigmentosum Complementation Group D ⁷⁵

Xp4 Xeroderma Pigmentosum Viii, Formerly ⁵⁷

Xp, Group H, Formerly; Xph, Formerly ⁵⁷

Xp, Group H, Formerly ⁵⁷

Xp, Group D; Xpdc ⁵⁷

Xp8, Formerly ⁵⁷

Xph, Formerly ⁵⁷

Xp, Group D ⁵⁷

Xp-D/cs ⁷⁵

Xp-D ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
later onset of neurologic features

HPO:

³²

xeroderma pigmentosum, complementation group d:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Xeroderma pigmentosum

External Ids:

OMIM ⁵⁷ 278730

Disease Ontology ¹² DOID:0110845

ICD10 ³³ Q82.1

MedGen ⁴² C0268138 C1848412 C1848413 more

MeSH ⁴⁴ D014983

SNOMED-CT via HPO ⁶⁹ 258211005 271611007 60700002 more

UMLS ⁷³ C0268138

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Summaries for Xeroderma Pigmentosum, Complementation Group D

UniProtKB/Swiss-Prot : ⁷⁵ 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 cerebro-oculo-facio-skeletal syndrome and xeroderma pigmentosum, complementation group a, 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 Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. Affiliated tissues include skin, eye and lung, and related phenotypes are intellectual disability and ataxia

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 : 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)

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Related Diseases for Xeroderma Pigmentosum, Complementation Group D

Diseases in the Xeroderma Pigmentosum, Complementation Group D family:

Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G

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

(show top 50) (show all 111)

#	Related Disease	Score	Top Affiliating Genes
1	cerebro-oculo-facio-skeletal syndrome	32.2	ERCC1 ERCC2 ERCC3
2	xeroderma pigmentosum, complementation group a	31.7	ERCC1 XPA
3	xeroderma pigmentosum, complementation group c	30.3	ERCC3 RAD23B XPA
4	trichothiodystrophy 1, photosensitive	30.1	ERCC1 ERCC2 ERCC3 GTF2H5 XPA
5	xeroderma pigmentosum, variant type	30.1	APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
6	cockayne syndrome	30.1	ERCC1 ERCC2 ERCC3 GTF2H1 XPA
7	leukoplakia	29.5	GSTM1 GSTT1
8	oral leukoplakia	29.3	GSTM1 GSTT1 XRCC1
9	lung cancer susceptibility 3	29.3	ERCC1 GSTP1 OGG1 XRCC1
10	esophageal cancer	29.3	ERCC1 GSTM1 GSTP1 GSTT1
11	lung cancer	29.2	ERCC1 ERCC2 GSTM1 GSTP1 GSTT1 OGG1
12	basal cell carcinoma	29.2	ERCC1 ERCC2 GSTM1 GSTT1 XPA XRCC1
13	parkinsonism with spasticity, x-linked	11.3
14	cockayne syndrome type ii	11.1
15	small cell cancer of the lung	10.4
16	colorectal cancer	10.3
17	breast cancer	10.3
18	squamous cell carcinoma	10.3
19	cataract	10.2
20	bladder cancer	10.2
21	lung cancer susceptibility 1	10.2
22	myeloid leukemia	10.2
23	lentigines	10.1
24	myoma	10.1
25	hepatocellular carcinoma	10.1
26	prostate cancer	10.1
27	leukemia, acute myeloid	10.1
28	leukemia	10.1
29	melanoma	10.1
30	adenocarcinoma	10.1
31	attenuated familial adenomatous polyposis	10.1	APEX1 OGG1
32	gastric cancer	10.1
33	xeroderma pigmentosum group e	10.1	RAD23B XPA
34	basal cell carcinoma 1	10.0
35	autosomal genetic disease	10.0	ERCC1 ERCC2 XPA XRCC1
36	aging	10.0
37	nasopharyngeal carcinoma	10.0
38	hepatitis	10.0
39	hepatitis b	10.0
40	oral cancer	10.0
41	autosomal recessive disease	10.0	ERCC2 ERCC3 GTF2H5 XPA
42	hearing loss, noise-induced	9.9	GSTM1 GSTT1
43	renal cell carcinoma, nonpapillary	9.9
44	squamous cell carcinoma, head and neck	9.9
45	leukemia, acute lymphoblastic	9.9
46	colorectal adenoma	9.9
47	lymphoma	9.9
48	lymphocytic leukemia	9.9
49	sarcoma	9.9
50	adenoma	9.9

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion
more

Head And Neck Ears:
sensorineural deafness

Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more

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

Clinical features from OMIM:

278730

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

³² (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²		HP:0001249
2	ataxia ³²		HP:0001251
3	spasticity ³²		HP:0001257
4	cataract ³²		HP:0000518
5	microcephaly ³²		HP:0000252
6	sensorineural hearing impairment ³²		HP:0000407
7	photophobia ³²		HP:0000613
8	melanoma ³²		HP:0002861
9	keratitis ³²		HP:0000491
10	keratoconjunctivitis sicca ³²	occasional (7.5%)	HP:0001097
11	corneal neovascularization ³²	occasional (7.5%)	HP:0011496
12	microphthalmia ³²		HP:0000568
13	conjunctivitis ³²		HP:0000509
14	mental deterioration ³²		HP:0001268
15	hyporeflexia ³²		HP:0001265
16	choreoathetosis ³²		HP:0001266
17	cutaneous photosensitivity ³²		HP:0000992
18	ectropion ³²		HP:0000656
19	telangiectasia ³²		HP:0001009
20	poikiloderma ³²		HP:0001029
21	entropion ³²		HP:0000621
22	dermal atrophy ³²		HP:0004334
23	defective dna repair after ultraviolet radiation damage ³²		HP:0003079

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	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.36	APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.65	APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
2	neoplasm	MP:0002006	9.17	APEX1 ERCC1 ERCC2 ERCC3 OGG1 XPA

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Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group D

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population	Unknown status	NCT02388854

Search 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 ²⁹	ERCC2

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Anatomical Context for Xeroderma Pigmentosum, Complementation Group D

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

⁴¹

Skin, Eye, Lung, Ovary, Prostate, Thyroid, Myeloid

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Publications for Xeroderma Pigmentosum, Complementation Group D

Articles related to Xeroderma Pigmentosum, Complementation Group D:

#	Title	Authors	Year
1	Xeroderma pigmentosum complementation group D polymorphism toward lung cancer susceptibility survival and response in patients treated with platinum chemotherapy. ( 29035087 )	Lawania S...Sharma S	2017
2	Xeroderma pigmentosum, complementation group D expression in H1299 lung cancer cells following benzo[a]pyrene exposure as well as in head and neck cancer patients. ( 26731659 )		2016
3	A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing. ( 26993158 )	Ono R...Nishigori C	2016
4	Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis. ( 24347488 )	Li SX...Jiang YY	2014
5	Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. ( 7825573 )	Broughton B.C....Lehmann A.R.	1995
6	Repair of N-methylpurines in the mitochondrial DNA of xeroderma pigmentosum complementation group D cells. ( 8504484 )	LeDoux SP...Wilson GL	1993
7	Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. ( 1729695 )	Fletjer W.L....Schultz R.A.	1992
8	Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. ( 3770739 )	Stefanini M...Nuzzo F	1986

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Genes for Xeroderma Pigmentosum, Complementation Group D

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	1371.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11709541 20301571 9101292 (more) 7849702 11156600 11443545 7585650 15494306 9101292 8033104 9426063 15982307 17470448 19442249 18575735 18597777 17242676 11319176 19101034 12706296 16981845 7585650
2	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	26.18	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15982307
3	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	19.31	DISEASES inferred ¹⁵
4	XRCC3	X-Ray Repair Cross Complementing 3	Protein Coding	18.85	DISEASES inferred ¹⁵
5	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	18.79	DISEASES inferred ¹⁵
6	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	18.29	DISEASES inferred ¹⁵
7	OGG1	8-Oxoguanine DNA Glycosylase	Protein Coding	17.84	DISEASES inferred ¹⁵
8	GTF2H5	General Transcription Factor IIH Subunit 5	Protein Coding	17.7	DISEASES inferred ¹⁵
9	APEX1	Apurinic/Apyrimidinic Endodeoxyribonuclease 1	Protein Coding	17.13	DISEASES inferred ¹⁵
10	RAD23B	RAD23 Homolog B, Nucleotide Excision Repair Protein	Protein Coding	16.88	DISEASES inferred ¹⁵
11	GSTT1	Glutathione S-Transferase Theta 1	Protein Coding	16.85	DISEASES inferred ¹⁵
12	GSTP1	Glutathione S-Transferase Pi 1	Protein Coding	16.8	DISEASES inferred ¹⁵
13	GSTM1	Glutathione S-Transferase Mu 1	Protein Coding	16.78	DISEASES inferred ¹⁵
14	GTF2H1	General Transcription Factor IIH Subunit 1	Protein Coding	16.53	DISEASES inferred ¹⁵

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Variations for Xeroderma Pigmentosum, Complementation Group D

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

⁷⁵ (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
7	ERCC2	p.Asp234Asn	VAR_008188
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

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

⁶ (show all 25)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ERCC2	NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val)	single nucleotide variant	Pathogenic	rs121913016	GRCh37	Chromosome 19, 45860626: 45860626
2	ERCC2	NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val)	single nucleotide variant	Pathogenic	rs121913016	GRCh38	Chromosome 19, 45357368: 45357368
3	ERCC2	NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter)	single nucleotide variant	Pathogenic	rs121913017	GRCh37	Chromosome 19, 45855481: 45855481
4	ERCC2	NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter)	single nucleotide variant	Pathogenic	rs121913017	GRCh38	Chromosome 19, 45352223: 45352223
5	ERCC2	ERCC2, 4-BP DEL, NT668	deletion	Pathogenic
6	ERCC2	NM_000400.3(ERCC2): c.1621A> C (p.Ser541Arg)	single nucleotide variant	Pathogenic	rs121913019	GRCh37	Chromosome 19, 45858032: 45858032
7	ERCC2	NM_000400.3(ERCC2): c.1621A> C (p.Ser541Arg)	single nucleotide variant	Pathogenic	rs121913019	GRCh38	Chromosome 19, 45354774: 45354774
8	ERCC2	NM_000400.3(ERCC2): c.335G> A (p.Arg112His)	single nucleotide variant	Pathogenic	rs121913020	GRCh37	Chromosome 19, 45871913: 45871913
9	ERCC2	NM_000400.3(ERCC2): c.335G> A (p.Arg112His)	single nucleotide variant	Pathogenic	rs121913020	GRCh38	Chromosome 19, 45368655: 45368655
10	ERCC2	NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp)	single nucleotide variant	Pathogenic	rs121913024	GRCh37	Chromosome 19, 45856060: 45856060
11	ERCC2	NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp)	single nucleotide variant	Pathogenic	rs121913024	GRCh38	Chromosome 19, 45352802: 45352802
12	ERCC2	ERCC2, 2-BP DEL, 1781TT	deletion	Pathogenic
13	ERCC2	ERCC2, 3-BP DEL/6-BP INS, NT1823	indel	Pathogenic
14	ERCC2	NM_000400.3(ERCC2): c.1454T> C (p.Leu485Pro)	single nucleotide variant	Pathogenic	rs121913025	GRCh37	Chromosome 19, 45860553: 45860553
15	ERCC2	NM_000400.3(ERCC2): c.1454T> C (p.Leu485Pro)	single nucleotide variant	Pathogenic	rs121913025	GRCh38	Chromosome 19, 45357295: 45357295
16	ERCC2	NM_000400.3(ERCC2): c.2047C> T (p.Arg683Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs41556519	GRCh37	Chromosome 19, 45855610: 45855610
17	ERCC2	NM_000400.3(ERCC2): c.2047C> T (p.Arg683Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs41556519	GRCh38	Chromosome 19, 45352352: 45352352
18	ERCC2	NM_000400.3(ERCC2): c.1887G> C (p.Gln629His)	single nucleotide variant	Uncertain significance	rs200665173	GRCh37	Chromosome 19, 45856019: 45856019
19	ERCC2	NM_000400.3(ERCC2): c.1887G> C (p.Gln629His)	single nucleotide variant	Uncertain significance	rs200665173	GRCh38	Chromosome 19, 45352761: 45352761
20	ERCC2	NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln)	single nucleotide variant	Pathogenic	rs758439420	GRCh38	Chromosome 19, 45352351: 45352351
21	ERCC2	NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln)	single nucleotide variant	Pathogenic	rs758439420	GRCh37	Chromosome 19, 45855609: 45855609
22	ERCC2	NM_000400.3(ERCC2): c.594+2_594+5delTGAG	deletion	Likely pathogenic	rs762309206	GRCh37	Chromosome 19, 45868091: 45868094
23	ERCC2	NM_000400.3(ERCC2): c.594+2_594+5delTGAG	deletion	Likely pathogenic	rs762309206	GRCh38	Chromosome 19, 45364833: 45364836
24	ERCC2	NM_000400.3(ERCC2): c.2046+1G> T	single nucleotide variant	Pathogenic	rs774768228	GRCh38	Chromosome 19, 45352505: 45352505
25	ERCC2	NM_000400.3(ERCC2): c.2046+1G> T	single nucleotide variant	Pathogenic	rs774768228	GRCh37	Chromosome 19, 45855763: 45855763

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Expression for Xeroderma Pigmentosum, Complementation Group D

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

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Pathways for Xeroderma Pigmentosum, Complementation Group D

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

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	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	12.71	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B
2	DNA Double-Strand Break Repair ⁶⁶ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁶ DNA damage_DNA-damage-induced responses ²² DNA Repair ⁶⁶ G2/M DNA damage checkpoint ⁶⁶ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁶ HDR through MMEJ (alt-NHEJ) ⁶⁶ Homology Directed Repair ⁶⁶ Non-homologous end joining ¹ Non-homologous end-joining ³⁷ Processing of DNA double-strand break ends ⁶⁶	12.7	APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5
3	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.52	APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 OGG1
4	DNA Damage ⁴	12.39	APEX1 ERCC1 ERCC2 ERCC3 GSTP1 RAD23B
5	Glutathione metabolism ²² ¹ ³⁷ Show member pathways 4-hydroxy-2-nonenal detoxification ¹ gamma-glutamyl cycle ¹ Glutathione conjugation ⁶⁶ glutathione redox reactions I ¹ Glutathione synthesis and recycling ⁶⁶ glutathione-mediated detoxification ¹	12.05	GSTM1 GSTP1 GSTT1
6	SMAD Signaling Network ⁶⁴	11.99	APEX1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
7	Fluid shear stress and atherosclerosis ³⁷	11.87	GSTM1 GSTP1 GSTT1
8	RNA Polymerase I Promoter Escape ⁶⁶ Show member pathways RNA Polymerase I Transcription Initiation ⁶⁶ RNA Polymerase I Transcription Termination ⁶⁶	11.84	ERCC2 ERCC3 GTF2H1 GTF2H5
9	Nucleotide excision repair ³⁷ Show member pathways Dual Incision in GG-NER ⁶⁶ Nucleotide Excision Repair Pathway ⁶⁴	11.76	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B
10	Platinum drug resistance ³⁷	11.72	ERCC1 GSTM1 GSTP1 GSTT1 XPA
11	Transcription_P53 signaling pathway ²²	11.61	APEX1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
12	Acetaminophen Pathway (therapeutic doses), Pharmacokinetics ⁶¹ Show member pathways 2-Naphthylamine and 2-Nitronaphtalene metabolism ²² Acetaminophen metabolism ²² Acetaminophen Pathway (toxic doses), Pharmacokinetics ⁶¹	11.6	GSTM1 GSTP1 GSTT1
13	Busulfan Pathway, Pharmacodynamics ⁶¹ Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) ¹ FMO oxidises nucleophiles ⁶⁶	11.33	APEX1 GSTM1 GSTP1
14	Cyclophosphamide Pathway, Pharmacodynamics ⁶¹ Show member pathways Ifosfamide Pathway, Pharmacodynamics ⁶¹	11.05	ERCC1 GSTP1
15	Naphthalene metabolism ²²	11.03	GSTM1 GSTP1 GSTT1
16	Etoposide Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	10.71	GSTP1 GSTT1
17	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	10.63	ERCC1 ERCC2 ERCC3 GSTM1 GSTP1 GSTT1

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GO Terms for Xeroderma Pigmentosum, Complementation Group D

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleoplasm	GO:0005654	9.9	APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5
2	nuclear chromosome, telomeric region	GO:0000784	9.62	APEX1 ERCC1 XRCC1 XRCC3
3	transcription factor TFIIH holo complex	GO:0005675	9.43	ERCC2 ERCC3 GTF2H1
4	ERCC4-ERCC1 complex	GO:0070522	9.4	ERCC1 XRCC1
5	nucleotide-excision repair factor 1 complex	GO:0000110	9.37	ERCC1 XPA
6	transcription factor TFIID complex	GO:0005669	9.26	ERCC1 ERCC2 ERCC3 GTF2H5
7	transcription factor TFIIH core complex	GO:0000439	8.92	ERCC2 ERCC3 GTF2H1 GTF2H5
8	nucleus	GO:0005634	10.21	APEX1 ERCC1 ERCC2 ERCC3 GSTP1 GTF2H1

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

(show all 35)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to oxidative stress	GO:0006979	9.96	ERCC1 ERCC2 ERCC3 OGG1 XPA
2	transcription-coupled nucleotide-excision repair	GO:0006283	9.95	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
3	nucleotide-excision repair, DNA incision, 5'-to lesion	GO:0006296	9.93	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
4	transcription initiation from RNA polymerase II promoter	GO:0006367	9.91	ERCC2 ERCC3 GTF2H1 GTF2H5
5	nucleotide-excision repair, preincision complex assembly	GO:0006294	9.91	ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B XPA
6	transcription elongation from RNA polymerase II promoter	GO:0006368	9.87	ERCC2 ERCC3 GTF2H1 GTF2H5
7	base-excision repair	GO:0006284	9.85	APEX1 OGG1 XPA XRCC1
8	nucleotide-excision repair, preincision complex stabilization	GO:0006293	9.85	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
9	aging	GO:0007568	9.84	APEX1 ERCC2 OGG1
10	response to hypoxia	GO:0001666	9.84	ERCC2 ERCC3 XRCC1
11	7-methylguanosine mRNA capping	GO:0006370	9.84	ERCC2 ERCC3 GTF2H1 GTF2H5
12	DNA recombination	GO:0006310	9.83	APEX1 ERCC1 XRCC3
13	embryonic organ development	GO:0048568	9.83	ERCC1 ERCC2 ERCC3 RAD23B
14	multicellular organism growth	GO:0035264	9.82	ERCC1 ERCC2 XPA
15	transcription initiation from RNA polymerase I promoter	GO:0006361	9.81	ERCC2 ERCC3 GTF2H1 GTF2H5
16	response to UV	GO:0009411	9.8	ERCC2 ERCC3 XPA
17	termination of RNA polymerase I transcription	GO:0006363	9.8	ERCC2 ERCC3 GTF2H1 GTF2H5
18	glutathione metabolic process	GO:0006749	9.78	GSTM1 GSTP1 GSTT1
19	UV protection	GO:0009650	9.78	ERCC1 ERCC2 ERCC3 XPA
20	nucleotide-excision repair	GO:0006289	9.76	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 OGG1
21	glutathione derivative biosynthetic process	GO:1901687	9.75	GSTM1 GSTP1 GSTT1
22	nucleotide-excision repair, DNA damage recognition	GO:0000715	9.66	RAD23B XPA
23	t-circle formation	GO:0090656	9.65	ERCC1 XRCC3
24	UV-damage excision repair	GO:0070914	9.65	ERCC1 XPA
25	regulation of mitotic cell cycle phase transition	GO:1901990	9.64	ERCC2 ERCC3
26	phosphorylation of RNA polymerase II C-terminal domain	GO:0070816	9.63	ERCC3 GTF2H1
27	hair cell differentiation	GO:0035315	9.63	ERCC2 ERCC3
28	regulation of mitotic recombination	GO:0000019	9.62	ERCC2 ERCC3
29	negative regulation of protection from non-homologous end joining at telomere	GO:1905765	9.6	ERCC1 XRCC1
30	telomeric DNA-containing double minutes formation	GO:0061819	9.59	ERCC1 XRCC1
31	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.58	ERCC2 ERCC3
32	global genome nucleotide-excision repair	GO:0070911	9.5	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B
33	nucleotide-excision repair, DNA incision	GO:0033683	9.17	ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 OGG1
34	cellular response to DNA damage stimulus	GO:0006974	10.06	APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5
35	DNA repair	GO:0006281	10	APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5

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	protein C-terminus binding	GO:0008022	9.69	ERCC1 ERCC2 ERCC3
2	endonuclease activity	GO:0004519	9.54	APEX1 ERCC1 OGG1
3	ATP-dependent DNA helicase activity	GO:0004003	9.52	ERCC2 ERCC3
4	glutathione peroxidase activity	GO:0004602	9.48	GSTP1 GSTT1
5	glutathione binding	GO:0043295	9.43	GSTM1 GSTP1
6	glutathione transferase activity	GO:0004364	9.43	GSTM1 GSTP1 GSTT1
7	class I DNA-(apurinic or apyrimidinic site) endonuclease activity	GO:0140078	9.4	APEX1 OGG1
8	RNA polymerase II CTD heptapeptide repeat kinase activity	GO:0008353	9.33	ERCC2 ERCC3 GTF2H1
9	3' overhang single-stranded DNA endodeoxyribonuclease activity	GO:1990599	9.32	ERCC1 XRCC1
10	DNA-dependent ATPase activity	GO:0008094	9.26	ERCC2 ERCC3 GTF2H1 XRCC3
11	damaged DNA binding	GO:0003684	9.23	APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
12	protein binding	GO:0005515	10.27	APEX1 ERCC1 ERCC2 ERCC3 GSTP1 GSTT1
13	DNA binding	GO:0003677	10.04	APEX1 ERCC1 ERCC2 ERCC3 OGG1 XPA

Sources

Sources for Xeroderma Pigmentosum, Complementation Group D

¹ BioSystems

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⁴¹ MalaCards

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⁵⁹ Orphanet

⁶⁰ PathCards

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Xeroderma Pigmentosum, Complementation Group D (XP-D)

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group D

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group D:

Characteristics:

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Summaries for Xeroderma Pigmentosum, Complementation Group D

Related Diseases for Xeroderma Pigmentosum, Complementation Group D

Diseases in the Xeroderma Pigmentosum, Complementation Group D 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:

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

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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