XP
MCID: XRD018
MIFTS: 61

Xeroderma Pigmentosum, Group a (XP) malady

Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases, Rare diseases, Eye diseases, Ear diseases categories
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Summaries for Xeroderma Pigmentosum, Group a

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MalaCards based summary: Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum complementation group a, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including conjunctival telangiectasia, optic nerve anomaly/optic atrophy/anomaly of the papilla and anomalies of teeth and dentition. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (xeroderma pigmentosum, complementation group A), and among its related pathways are Transcription P53 signaling pathway and Fanconi anemia pathway. The compounds 2-acetylaminofluorene and benzo(a)pyrene have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and tongue, and related mouse phenotypes are tumorigenesis and integument.

Descriptions from OMIM:46 278700, 194400, 278720, 278730, 278740 278750, 278760, 278780, 610651 more

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Xeroderma Pigmentosum, Group a, Aliases & Descriptions:

Name: Xeroderma Pigmentosum, Group a 46
Xeroderma Pigmentosum Complementation Group a 48 62
Xeroderma Pigmentosum 48 46
 
Xpa 48
Xp 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
xeroderma pigmentosum complementation group a:
Inheritance: Autosomal recessive; Age of onset: Variable
xeroderma pigmentosum:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Adult


External Ids:

ICD10 via Orphanet26 Q82.1
UMLS via Orphanet63 C0043346
MESH via Orphanet35 D014983

Related Diseases for Xeroderma Pigmentosum, Group a

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Diseases in the Xeroderma Pigmentosum, Group a family:

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

Diseases related to Xeroderma Pigmentosum, Group a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.3RPA1, RPA2, XPC, XPA
2cockayne syndrome31.0XPA, XPC
3photosensitive trichothiodystrophy30.3XPC, XPA
4ataxia telangiectasia30.2RPA1, RPA2, XPA
5breast cancer30.0XPC, RPA2, RPA1, CPOX
6werner syndrome30.0RPA1, RECQL4
7xeroderma pigmentosum, group d11.0
8melanoma10.8
9angiosarcoma10.6
10xeroderma pigmentosum type 710.6
11de sanctis-cacchione syndrome10.6
12fanconi's anemia10.5
13gastric cancer10.5
14herpes simplex10.5
15xeroderma pigmentosum, group e, ddb-negative subtype10.5
16ataxia10.5
17chromosome xp deletion10.5
18cockayne syndrome type i10.4
19xeroderma pigmentosum, type 910.4
20xpc-related xeroderma pigmentosum10.4
21ercc1-related xeroderma pigmentosum10.4
22xeroderma pigmentosum, group g/cockayne syndrome10.4
23bloom syndrome10.3
24pterygium10.3
25uv sensitive syndrome10.3
26xeroderma pigmentosum, type 210.3
27xeroderma pigmentosum, type 310.3
28xeroderma pigmentosum, type 510.3
29xeroderma pigmentosum, type 610.3
30ercc3-related xeroderma pigmentosum10.3
31ercc2-related xeroderma pigmentosum10.3
32ddb2-related xeroderma pigmentosum10.3
33ercc4-related xeroderma pigmentosum10.3
34ercc5-related xeroderma pigmentosum10.3
35polh-related xeroderma pigmentosum10.3
36xeroderma pigmentosum, type f/cockayne syndrome10.3
37nevoid basal cell carcinoma syndrome10.3
38neuronitis10.3
39progeria10.3
40basal cell carcinoma10.3
41dystonia10.3
42esophagitis10.3
43laryngitis10.3
44lung cancer10.3
45neurologic diseases10.3
46multiple self healing squamous epithelioma10.3
47dysautonomia10.3
48germ cell tumors10.3
49esophageal squamous cell carcinoma10.3
50chondrodysplasia10.2

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



Diseases related to xeroderma pigmentosum, group a

Symptoms for Xeroderma Pigmentosum, Group a

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Symptoms by clinical synopsis from OMIM:

194400

Clinical features from OMIM:

278700,194400,278720,278730,278740,278750,278760,278780,610651

Symptoms:

48 (show all 60)
  • conjunctival telangiectasia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • anomalies of teeth and dentition
  • dry/squaly skin/exfoliation
  • skin photosensitivity
  • thin skin
  • thick skin/pachydermia/orange skin
  • excessive freckling
  • telangiectasiae of the skin
  • telangiectasic erythema/poikiloderma
  • late puberty/hypogonadism/hypogenitalism
  • eeg anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • articular/joint pain/arthralgia
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fever/chilling
  • asthenia/fatigue/weakness
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • cataract/lens opacification
  • strabismus/squint
  • sensorineural deafness/hearing loss
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • warts/papillomas
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • melanoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • microcephaly
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • corneal clouding/opacity/vascularisation
  • pterygion
  • photophobia
  • anomalies of eyelids, eyelashes and lacrimal system
  • cryptophthalmia/ankyloblepharon/synblepharon
  • ectropion/entropion/eyelid eversion
  • blepharitis/eyelid inflammation
  • hearing loss/hypoacusia/deafness
  • pigmented naevi/naevus pigmentosus/lentigo
  • alopecia
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • peripheral neuropathy
  • ataxia/incoordination/trouble of the equilibrium
  • extrapyramidal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • areflexia/hyporeflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • delayed bone age
  • aminoacid metabolism anomalies/aminoaciduria
  • neoplasms/tumors
  • oral cavity/tongue neoplasm/tumor/carcinoma/cancer
  • eye neoplasm/tumor/carcinoma/cancer
  • short stature/dwarfism/nanism

HPO human phenotypes related to Xeroderma Pigmentosum, Group a:

(show all 67)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 conjunctival telangiectasia hallmark (90%) HP:0000524
3 optic atrophy hallmark (90%) HP:0000648
4 dry skin hallmark (90%) HP:0000958
5 thin skin hallmark (90%) HP:0000963
6 cutaneous photosensitivity hallmark (90%) HP:0000992
7 poikiloderma hallmark (90%) HP:0001029
8 freckling hallmark (90%) HP:0001480
9 eeg abnormality hallmark (90%) HP:0002353
10 developmental regression hallmark (90%) HP:0002376
11 arthralgia hallmark (90%) HP:0002829
12 abnormality of temperature regulation hallmark (90%) HP:0004370
13 cognitive impairment hallmark (90%) HP:0100543
14 teleangiectasia of the skin hallmark (90%) HP:0100585
15 cryptorchidism typical (50%) HP:0000028
16 sensorineural hearing impairment typical (50%) HP:0000407
17 strabismus typical (50%) HP:0000486
18 cataract typical (50%) HP:0000518
19 hyperkeratosis typical (50%) HP:0000962
20 hypermelanotic macule typical (50%) HP:0001034
21 hypopigmented skin patches typical (50%) HP:0001053
22 melanoma typical (50%) HP:0002861
23 verrucae typical (50%) HP:0200043
24 microcephaly occasional (7.5%) HP:0000252
25 blepharitis occasional (7.5%) HP:0000498
26 photophobia occasional (7.5%) HP:0000613
27 melanocytic nevus occasional (7.5%) HP:0000995
28 pterygium occasional (7.5%) HP:0001059
29 seizures occasional (7.5%) HP:0001250
30 hypertonia occasional (7.5%) HP:0001276
31 reduced tendon reflexes occasional (7.5%) HP:0001315
32 alopecia occasional (7.5%) HP:0001596
33 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
34 cerebral cortical atrophy occasional (7.5%) HP:0002120
35 incoordination occasional (7.5%) HP:0002311
36 delayed skeletal maturation occasional (7.5%) HP:0002750
37 aminoaciduria occasional (7.5%) HP:0003355
38 short stature occasional (7.5%) HP:0004322
39 craniofacial hyperostosis occasional (7.5%) HP:0004493
40 opacification of the corneal stroma occasional (7.5%) HP:0007759
41 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
42 peripheral neuropathy occasional (7.5%) HP:0009830
43 neoplasm of the eye occasional (7.5%) HP:0100012
44 neoplasm of the oral cavity occasional (7.5%) HP:0100649
45 hyperpigmentation of the skin HP:0000953
46 freckling HP:0001480
47 defective dna repair after ultraviolet radiation damage HP:0003079
48 neoplasm of the skin HP:0008069
49 autosomal recessive inheritance HP:0000007
50 microcephaly HP:0000252
51 sensorineural hearing impairment HP:0000407
52 keratitis HP:0000491
53 conjunctivitis HP:0000509
54 photophobia HP:0000613
55 entropion HP:0000621
56 ectropion HP:0000656
57 cutaneous photosensitivity HP:0000992
58 telangiectasia HP:0001009
59 poikiloderma HP:0001029
60 intellectual disability HP:0001249
61 ataxia HP:0001251
62 spasticity HP:0001257
63 hyporeflexia HP:0001265
64 choreoathetosis HP:0001266
65 mental deterioration HP:0001268
66 defective dna repair after ultraviolet radiation damage HP:0003079
67 dermal atrophy HP:0004334

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group a

Search NIH Clinical Center for Xeroderma Pigmentosum, Group a

Genetic Tests for Xeroderma Pigmentosum, Group a

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Anatomical Context for Xeroderma Pigmentosum, Group a

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group a:

32
Skin, Testes, Tongue, Eye, Bone, Brain, Liver, Lung, B cells

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.6XPA, XPC, RPA1, RECQL4
2MP:00107718.4XPA, XPC, RECQL4, TPH1
3MP:00053918.3CPOX, RECQL4, XPC, XPA

Publications for Xeroderma Pigmentosum, Group a

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Articles related to Xeroderma Pigmentosum, Group a:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Effect of point substitutions within the minimal DNA-binding domain of xeroderma pigmentosum group A protein on interaction with DNA intermediates of nucleotide excision repair. (25100013)
2014
2
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. (24135642)
2014
3
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. (21782366)
2012
4
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. (21148310)
2011
5
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. (20574439)
2010
6
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. (19819090)
2010
7
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. (20693538)
2010
8
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. (20388774)
2010
9
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. (19586908)
2009
10
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. (18790090)
2008
11
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
12
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. (18585952)
2008
13
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). (18693251)
2008
14
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. (18316597)
2008
15
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. (17616660)
2007
16
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. (16491090)
2006
17
Phosphorylation of nucleotide excision repair factor xeroderma pigmentosum group A by ataxia telangiectasia mutated and Rad3-related- dependent checkpoint pathway promotes cell survival in response to UV irradiation. (16540648)
2006
18
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. (16098033)
2005
19
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. (16117798)
2005
20
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. (15626539)
2005
21
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. (15214909)
2004
22
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. (15535132)
2004
23
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. (14578172)
2003
24
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. (12897146)
2003
25
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (11911469)
2002
26
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. (12376498)
2002
27
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. (11960916)
2002
28
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. (12396616)
2002
29
Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair. (12509227)
2002
30
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. (11376684)
2001
31
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
32
Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis. (11285190)
2001
33
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. (11313422)
2001
34
Delay of DNA-adduct repair and severe toxicity in xeroderma pigmentosum group A gene (XPA) deficient mice treated with 2-amino-1-methyl-6-phenyl-imidazo [4,5-b] pyridine (PhIP). (10755388)
2000
35
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. (10651981)
2000
36
Partial complementation of the DNA repair defects in cells from xeroderma pigmentosum groups A, C, D and F but not G by the denV gene from bacteriophage T4. (10989608)
2000
37
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. (10498252)
1999
38
Ultraviolet radiation-induced suppression of natural killer cell activity is enhanced in xeroderma pigmentosum group A (XPA) model mice. (10383746)
1999
39
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. (10454612)
1999
40
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). (10340474)
1999
41
Distribution of mutations in the human Xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. (9671271)
1998
42
Mutational analysis of a function of xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair. (9753735)
1998
43
Effect of XPA gene mutations on UV-induced immunostaining of PCNA in fibroblasts from xeroderma pigmentosum group A patients. (8814338)
1996
44
Preferential DNA damage in the p53 gene by benzo[a]pyrene metabolites in cytochrome P4501A1-expressing xeroderma pigmentosum group A cells. (8634092)
1996
45
Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. (8765158)
1996
46
Correlation of the clinical manifestations and gene mutations of Japanese xeroderma pigmentosum group A patients. (7577588)
1995
47
Molecular analysis of Xeroderma pigmentosum group A gene. (8504220)
1993
48
Preferential binding of the xeroderma pigmentosum group A complementing protein to damaged DNA. (8218288)
1993
49
Yeast RAD14 and human xeroderma pigmentosum group A DNA-repair genes encode homologous proteins. (1741034)
1992
50
Two types of proliferating cell nuclear antigen (PCNA) complex formation in quiescent normal and xeroderma pigmentosum group A fibroblasts following ultraviolet light (uv) irradiation. (1353458)
1992

Variations for Xeroderma Pigmentosum, Group a

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

64
id Symbol AA change Variation ID SNP ID
1XPAp.Pro94LeuVAR_007727
2XPAp.Cys108PheVAR_007728
3XPAp.Arg130LysVAR_007729
4XPAp.Gln185HisVAR_007730
5XPAp.His244ArgVAR_007731

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group a:

6 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1XPCNM_004628.4(XPC): c.1001C> A (p.Pro334His)single nucleotide variantPathogenicrs74737358GRCh37Chr 3, 14200382: 14200382
2XPCXPC, 83-BP INS, NT462insertionPathogenic
3XPCXPC, 3-BP INS, GGT, CODON 580 AND LYS822GLNinsertionPathogenic
4XPCXPC, 2-BP DEL, 1132AAdeletionPathogenic
5XPCXPC, IVS9DS, T-G, +2single nucleotide variantPathogenic
6XPCXPC, 2-BP DEL, 669ATdeletionPathogenic
7XPCNM_004628.4(XPC): c.1735C> T (p.Arg579Ter)single nucleotide variantPathogenicrs121965088GRCh37Chr 3, 14199648: 14199648
8XPCXPC, IVS3AS, T-A, -9single nucleotide variantPathogenic
9XPCXPC, IVS3AS, A-G, -24single nucleotide variantPathogenic
10XPCXPC, 2-BP DEL, 1744TGdeletionPathogenic
11XPAXPA, IVS3AS, G-Csingle nucleotide variantPathogenic
12XPANM_000380.3(XPA): c.323G> T (p.Cys108Phe)single nucleotide variantPathogenicrs104894131GRCh37Chr 9, 100451882: 100451882
13XPAXPA, 5-BP DELdeletionPathogenic
14XPANM_000380.3(XPA): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs104894132GRCh37Chr 9, 100437861: 100437861
15XPANM_000380.3(XPA): c.619C> T (p.Arg207Ter)single nucleotide variantPathogenicrs104894133GRCh37Chr 9, 100447259: 100447259
16XPANM_000380.3(XPA): c.348T> A (p.Tyr116Ter)single nucleotide variantPathogenicrs104894134GRCh37Chr 9, 100451857: 100451857
17XPAXPA, IVS1DS, T-G, +2single nucleotide variantPathogenic

Expression for genes affiliated with Xeroderma Pigmentosum, Group a

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Expression patterns in normal tissues for genes affiliated with Xeroderma Pigmentosum, Group a

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

Pathways for genes affiliated with Xeroderma Pigmentosum, Group a

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Pathways related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7XPC, XPA
29.4RPA2, RPA1
3
Show member pathways
9.4RPA2, RPA1
4
Show member pathways
Cell cycle Start of DNA replication in early S phase60
DNA Replication37
9.4RPA2, RPA1
5
Show member pathways
9.4RPA2, RPA1
69.4RPA2, RPA1
7
Show member pathways
9.4RPA2, RPA1
8
Show member pathways
9.4RPA2, RPA1
9
Show member pathways
Homologous recombination37
9.4RPA1, RPA2
10
Show member pathways
9.4RPA2, RPA1
11
Show member pathways
9.2XPA, XPC, RPA2
12
Show member pathways
8.6XPA, XPC, RPA2, RPA1
13
Show member pathways
8.6RPA1, RPA2, XPC, XPA
14
Show member pathways
8.6RECQL4, RPA1, RPA2, XPC

Compounds for genes affiliated with Xeroderma Pigmentosum, Group a

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Compounds related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
12-acetylaminofluorene4410.0XPA, XPC
2benzo(a)pyrene449.9XPC, XPA
3cpds449.9XPA, RPA1
4rpa 2449.7RPA1, RPA2
5camptothecin44 61 1111.4RPA2, RPA1
6bromodeoxyuridine449.4RPA2, RPA1
7hydroxyurea44 50 1111.3RPA2, RPA1, RECQL4
8peroxynitrite449.2CPOX, TPH1
9zinc44 2410.1RPA1, RPA2, XPA
10oligonucleotide448.9XPA, XPC, RPA2, RPA1
11atp44 289.8CPOX, RPA1, XPC, XPA
12h2o2448.7TPH1, CPOX, RECQL4
13cisplatin44 50 61 1111.6TPH1, RPA1, XPC, XPA
14nitric oxide44 24 1110.4TPH1, CPOX, RPA1
15glutamate448.4XPA, CPOX, TPH1
16tyrosine448.3XPC, RPA2, RPA1, TPH1

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group a

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Cellular components related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA replication factor A complexGO:0056629.4RPA2, RPA1
2PML bodyGO:0166059.4RPA1, RPA2
3nucleoplasmGO:0056548.5XPA, XPC, RPA2, RPA1
4nucleolusGO:0057308.3RPA2, XPC, XPA, RPA1

Biological processes related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA recombinase assemblyGO:0007309.7RPA2, RPA1
2telomere maintenance via semi-conservative replicationGO:0322019.6RPA1, RPA2
3nucleotide-excision repair, DNA gap fillingGO:0062979.6RPA1, RPA2
4telomere maintenance via recombinationGO:0007229.6RPA2, RPA1
5DNA strand elongation involved in DNA replicationGO:0062719.5RPA2, RPA1
6transcription-coupled nucleotide-excision repairGO:0062839.5RPA2, RPA1
7DNA recombinationGO:0063109.5RPA1, RECQL4
8telomere maintenanceGO:0007239.4RPA1, RPA2
9double-strand break repair via homologous recombinationGO:0007249.3RPA2, RPA1
10DNA replicationGO:0062609.2RPA2, RPA1, RECQL4
11double-strand break repairGO:0063029.1RPA2, RPA1
12nucleotide-excision repair, DNA damage removalGO:0007188.9XPA, XPC, RPA2, RPA1
13nucleotide-excision repairGO:0062898.9RPA1, RPA2, XPC, XPA
14DNA repairGO:0062818.5RECQL4, RPA1, RPA2, XPC, XPA

Molecular functions related to Xeroderma Pigmentosum, Group a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:0036849.7XPA, XPC
2bubble DNA bindingGO:0004059.3XPC, RECQL4
3single-stranded DNA bindingGO:0036978.9XPC, RPA2, RPA1

Products for genes affiliated with Xeroderma Pigmentosum, Group a

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  • Antibodies
  • Proteins
  • Lysates

Sources for Xeroderma Pigmentosum, Group a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet