MCID: XRD018
MIFTS: 59

Xeroderma Pigmentosum, Group a malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases, Eye diseases, Ear diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group a

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Aliases & Descriptions for Xeroderma Pigmentosum, Group a:

Name: Xeroderma Pigmentosum, Group a 49 11 65
Xeroderma Pigmentosum Complementation Group a 51 67
Xeroderma Pigmentosum I 67 24
Xeroderma Pigmentosum, Type 1 45
 
Xp Group a 67
Xp-a 67
Xp1 67
Xpa 51

Characteristics:

Orphanet epidemiological data:

51
xeroderma pigmentosum complementation group a:
Inheritance: Autosomal recessive; Age of onset: All ages

HPO:

61
xeroderma pigmentosum, group a:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 278700
Orphanet51 276249
ICD10 via Orphanet28 Q82.1
MedGen34 CN068460
MeSH36 D014983
UMLS65 C0268135

Summaries for Xeroderma Pigmentosum, Group a

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OMIM:49 Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased... (278700) more...

MalaCards based summary: Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum complementation group a, is related to xpa-related xeroderma pigmentosum and xeroderma pigmentosum, variant type, and has symptoms including dermal atrophy, defective dna repair after ultraviolet radiation damage and mental deterioration. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (Xeroderma Pigmentosum, Complementation Group A), and among its related pathways are DNA strand elongation and Mismatch repair. Affiliated tissues include skin, liver and kidney, and related mouse phenotypes are pigmentation and liver/biliary system.

UniProtKB/Swiss-Prot:67 Xeroderma pigmentosum complementation group A: 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. XP-A patients show the most severe skin symptoms and progressive neurological disorders.

Related Diseases for Xeroderma Pigmentosum, Group a

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Diseases in the Xeroderma Pigmentosum, Group B family:

Xeroderma Pigmentosum, Group C xeroderma pigmentosum, group a
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 Suite gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1xpa-related xeroderma pigmentosum12.2
2xeroderma pigmentosum, variant type11.4
3xeroderma pigmentosum, type 911.3
4mutiple parosteal osteochondromatous proliferations10.4TP53, XPA, XPC
5deep leiomyoma10.4PCNA, TP53
6ovarian clear cell cystadenofibroma10.3CALB2, TP53
7uterine corpus adenofibroma10.3CALB2, TP53
8cranial pseudosarcomatous fasciitis10.3CALB2, TP53
9periarthritis10.2ERCC4, XPA, XPC
10cockayne syndrome10.2
11ataxia10.1
12anemia, hemolytic, rh-null, regulator type10.0ERCC4, RPA1, TP53, XPA, XPC
13qazi markouizos syndrome10.0LMNA, TP53, XPA
14lung cancer10.0
15ataxia-telangiectasia10.0
16esophagitis10.0
17basal cell carcinoma10.0
18laryngitis10.0
19progeria10.0
20dystonia10.0
21neuronitis10.0
22neurologic diseases10.0
23dysautonomia10.0
24dyskinetic cerebral palsy10.0ATM, ERCC4, TP53
25alzheimer disease 1210.0LMNA, RECQL4, RPA1
26internal auditory canal lipoma9.9ATM, TP53
27peroxisome biogenesis disorder 5a9.9ATM, ATR, TP53
28cd40 ligand deficiency9.8ATM, ATR, PRKDC
29retinitis pigmentosa9.8
30congenital stationary night blindness9.8
31retinitis9.8
32pancreatic serous cystadenoma9.8ERCC4, LMNA, PRKDC, XPA
33endometrial mucinous adenocarcinoma9.8CALB2, TP53
34choroid plexus papilloma9.7ATM, TP53, XPC
35mental retardation, autosomal recessive 459.4ATM, ERCC4, FANCC, LMNA
36short-rib thoracic dysplasia 3 with or without polydactyly9.1ATM, ATR, PCNA, PRKDC, RPA2, TP53
373-methylglutaconic aciduria, type i4.6ATM, ATR, CALB2, CPOX, ERCC4, FANCC

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:

278700

Clinical features from OMIM:

278700

HPO human phenotypes related to Xeroderma Pigmentosum, Group a:

(show all 18)
id Description Frequency HPO Source Accession
1 dermal atrophy HP:0004334
2 defective dna repair after ultraviolet radiation damage HP:0003079
3 mental deterioration HP:0001268
4 choreoathetosis HP:0001266
5 hyporeflexia HP:0001265
6 spasticity HP:0001257
7 ataxia HP:0001251
8 intellectual disability HP:0001249
9 poikiloderma HP:0001029
10 telangiectasia HP:0001009
11 cutaneous photosensitivity HP:0000992
12 ectropion HP:0000656
13 entropion HP:0000621
14 photophobia HP:0000613
15 conjunctivitis HP:0000509
16 keratitis HP:0000491
17 sensorineural hearing impairment HP:0000407
18 microcephaly HP:0000252

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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Drugs for Xeroderma Pigmentosum, Group a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2674191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2Angiogenesis InhibitorsPhase 23688
3Immunologic FactorsPhase 218483
4Immunosuppressive AgentsPhase 210422
5Anti-Infective AgentsPhase 217220
6Angiogenesis Modulating AgentsPhase 23611
7Anti-Bacterial AgentsPhase 29140
8Sunscreening Agents79
9Radiation-Protective Agents333
10Dermatologic Agents4555
11Protective Agents5651

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumActive, not recruitingNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
4Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

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:

33
Skin, Liver, Kidney, Endothelial, Thyroid, B cells, T cells

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

38 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9ATR, LMNA, PRKDC, RECQL4, TP53, XPA
2MP:00053708.7ATR, ERCC4, FANCC, LMNA, PRKDC, TP53
3MP:00053918.5CPOX, LMNA, PRKDC, RECQL4, TP53, XPA
4MP:00020068.1ATM, ATR, PRKDC, RECQL4, RPA1, TGFBR1
5MP:00053897.9ATM, ATR, FANCC, LMNA, PCNA, PRKDC
6MP:00053697.8LMNA, PRKDC, PVALB, TGFBR1, TP53, TPH1
7MP:00053797.7ATM, ATR, FANCC, LMNA, PCNA, PRKDC
8MP:00053757.6ATM, ATR, LMNA, PCNA, PRKDC, RECQL4
9MP:00107717.4ATM, ATR, LMNA, PRKDC, RECQL4, TGFBR1
10MP:00053907.3ATR, FANCC, LMNA, PRKDC, RECQL4, TGFBR1
11MP:00053876.8ATM, ATR, FANCC, LMNA, PCNA, PRKDC
12MP:00053976.7ATM, ATR, FANCC, LMNA, PCNA, PRKDC
13MP:00053786.7ATM, ATR, ERCC4, LMNA, PCNA, PRKDC
14MP:00036316.6ATM, ATR, CALB2, LMNA, PRKDC, PVALB
15MP:00053866.6ATM, ATR, CALB2, LMNA, PRKDC, PVALB
16MP:00053846.1ATM, ATR, ERCC4, FANCC, LMNA, PRKDC
17MP:00107686.0ATM, ATR, ERCC4, LMNA, PCNA, PRKDC

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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1XPANM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs)insertionPathogenicrs786205205GRCh37Chr 9, 100449387: 100449388
2XPCNM_004628.4(XPC): c.2034-1G> Asingle nucleotide variantLikely pathogenicrs869025275GRCh38Chr 3, 14152417: 14152417
3XPAXPA, IVS3AS, G-Csingle nucleotide variantPathogenic
4XPANM_000380.3(XPA): c.323G> T (p.Cys108Phe)single nucleotide variantPathogenicrs104894131GRCh37Chr 9, 100451882: 100451882
5XPAXPA, 5-BP DELdeletionPathogenic
6XPANM_000380.3(XPA): c.682C> T (p.Arg228Ter)single nucleotide variantPathogenicrs104894132GRCh37Chr 9, 100437861: 100437861
7XPANM_000380.3(XPA): c.619C> T (p.Arg207Ter)single nucleotide variantPathogenicrs104894133GRCh37Chr 9, 100447259: 100447259
8XPANM_000380.3(XPA): c.348T> A (p.Tyr116Ter)single nucleotide variantPathogenicrs104894134GRCh37Chr 9, 100451857: 100451857
9XPAXPA, IVS1DS, T-G, +2single nucleotide variantPathogenic

Expression for genes affiliated with Xeroderma Pigmentosum, Group a

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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 Suite gene sharing:

(show all 39)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8PCNA, RPA1, RPA2
2
Show member pathways
9.8PCNA, RPA1, RPA2
39.7HMGA1, PCNA, TP53
49.4ATM, RPA1, RPA2
5
Show member pathways
9.3ATR, ERCC4, PCNA, RPA1, RPA2
6
Show member pathways
9.3ATM, ATR, TP53
7
Show member pathways
9.3ATM, ATR, TP53
8
Show member pathways
9.2ATR, ERCC4, FANCC, RPA1, RPA2
9
Show member pathways
9.2ERCC4, PCNA, RPA1, RPA2, XPA, XPC
10
Show member pathways
9.2ERCC4, PCNA, RPA1, RPA2, XPA, XPC
11
Show member pathways
9.2ATM, ATR, RPA1, RPA2
129.2ATM, ATR, PRKDC
139.1ATM, ATR, ERCC4, TP53
149.1ATM, ATR, PCNA, TP53
159.1ATM, ATR, PCNA, TP53
169.0PCNA, PRKDC, RPA1, RPA2, TP53
179.0ATM, ATR, TGFBR1, TP53
18
Show member pathways
9.0ATM, ATR, TGFBR1, TP53
199.0ATM, PCNA, TGFBR1, TP53
20
Show member pathways
9.0ATM, ATR, FANCC, TP53
218.9ATM, ATR, TP53, XPA, XPC
22
Show member pathways
8.9ATM, ATR, ERCC4, RPA2, TP53
238.9ATM, ATR, PCNA, TP53, XPC
24
Show member pathways
8.9ATM, ATR, PRKDC, TP53
25
Show member pathways
8.9ATM, ATR, PRKDC, TP53
26
Show member pathways
8.8ATM, PCNA, RPA1, RPA2, TP53
278.7ATM, ATR, PCNA, TGFBR1, TP53
28
Show member pathways
8.7ATM, ATR, ERCC4, PCNA, RPA1, RPA2
29
Show member pathways
8.6ATM, ATR, ERCC4, RPA1, RPA2, TP53
30
Show member pathways
8.6ATM, ATR, LMNA, RPA1, RPA2
318.6ATM, ATR, PCNA, PRKDC, TP53
32
Show member pathways
8.6ATM, ATR, HMGA1, RPA1, RPA2, TP53
33
Show member pathways
8.5ATM, ATR, HMGA1, LMNA, TP53
34
Show member pathways
8.5ATM, ATR, FANCC, PCNA, TP53, XPC
358.3ATM, ATR, FANCC, PCNA, PRKDC, TP53
36
Show member pathways
8.1ATM, ATR, ERCC4, FANCC, PCNA, RPA1
37
Show member pathways
7.9ATM, ATR, ERCC4, LMNA, PCNA, RPA1
38
Show member pathways
7.4ATM, ATR, ERCC4, FANCC, PCNA, PRKDC
39
Show member pathways
7.2ATM, ATR, ERCC4, FANCC, PCNA, PRKDC

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:00166059.5ATR, RPA1, RPA2, TP53

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.7ERCC4, XPA
2mismatch repairGO:000629810.7PCNA, RPA1
3response to auditory stimulusGO:001099610.5XPA, XPC
4error-free translesion synthesisGO:007098710.5RPA1, RPA2
5UV-damage excision repairGO:007091410.3XPA, XPC
6nucleotide-excision repair, DNA incision, 5-to lesionGO:000629610.3ERCC4, RPA1, RPA2
7error-prone translesion synthesisGO:004227610.2PCNA, RPA1, RPA2
8positive regulation of telomerase catalytic core complex assemblyGO:190488410.2ATM, ATR
9nucleotide-excision repair, DNA gap fillingGO:000629710.2PCNA, RPA1, RPA2
10establishment of RNA localization to telomereGO:009769410.2ATM, ATR
11DNA damage response, detection of DNA damageGO:004276910.2PCNA, RPA1, RPA2
12positive regulation of DNA damage response, signal transduction by p53 class mediatorGO:004351710.2ATM, ATR
13determination of adult lifespanGO:000834010.1ATM, TP53
14positive regulation of telomere maintenance via telomeraseGO:003221210.1ATM, ATR
15nucleotide-excision repair, preincision complex stabilizationGO:000629310.1ERCC4, RPA1, RPA2, XPA
16nucleotide-excision repair, preincision complex assemblyGO:000629410.1RPA1, XPA, XPC
17response to gamma radiationGO:001033210.1PRKDC, TP53
18G1/S transition of mitotic cell cycleGO:000008210.1PCNA, RPA1, RPA2
19protein sumoylationGO:001692510.1PCNA, TP53, XPC
20interstrand cross-link repairGO:003629710.0ATR, RPA1, RPA2
21V(D)J recombinationGO:00331519.9ATM, PRKDC
22nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.9ERCC4, RPA1, RPA2
23global genome nucleotide-excision repairGO:00709119.8RPA1, RPA2, XPA
24transcription-coupled nucleotide-excision repairGO:00062839.8ERCC4, PCNA, RPA1, RPA2, XPA
25cell cycle arrestGO:00070509.7ATM, TGFBR1, TP53
26replicative senescenceGO:00903999.7ATM, TP53
27regulation of signal transduction by p53 class mediatorGO:19017969.6ATM, ATR, RPA1, RPA2
28intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6ATM, PRKDC, XPA
29double-strand break repair via homologous recombinationGO:00007249.5ATM, ATR, RPA1, RPA2
30nucleotide-excision repair, DNA incisionGO:00336839.5ERCC4, PCNA, XPA
31double-strand break repairGO:00063029.5ATM, PRKDC, TP53
32cellular response to heatGO:00346059.5ATM, ATR, RPA1, RPA2
33nucleotide-excision repairGO:00062899.5ERCC4, PCNA, RPA1, RPA2, TP53
34base-excision repairGO:00062849.5HMGA1, RECQL4, RPA1, RPA2, TP53, XPA
35cellular response to DNA damage stimulusGO:00069749.0ATM, ATR, TP53, XPC
36DNA repairGO:00062818.3ATM, ERCC4, PRKDC, RPA1, RPA2, XPA

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036979.7ERCC4, RPA1, RPA2, XPC
2DNA bindingGO:00036778.4ATM, ATR, ERCC4, PRKDC, TP53, XPC

Sources for Xeroderma Pigmentosum, Group a

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet