MCID: XRD018
MIFTS: 58

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, endothelial and b cells, 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 top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1xpa-related xeroderma pigmentosum12.6
2xeroderma pigmentosum, variant type11.8
3xeroderma pigmentosum, type 911.7
4cockayne syndrome11.5
5trichothiodystrophy 1, photosensitive11.5
6progeria11.5
7autosomal genetic disease11.4
8spasmodic dystonia11.4
9integumentary system cancer11.4
10conjunctival degeneration11.4
11pinguecula11.4
12skin benign neoplasm11.4
13mutagen sensitivity11.4
14autosomal recessive disease11.2
15hepatitis10.3
16biliary atresia10.3
17kidney disease10.3
18xeroderma pigmentosum, group b10.3
19xeroderma pigmentosum, group c10.3
20xeroderma pigmentosum, group g10.3
21xeroderma pigmentosum, group f10.3
22mutiple parosteal osteochondromatous proliferations10.3TP53, XPA, XPC
23neural tube defects10.3
24osteoarthritis10.3
25pyelonephritis10.3
26xanthogranulomatous pyelonephritis10.3
27lymphadenitis10.3
28cervicitis10.3
29bursitis10.3
30frontal lobe epilepsy10.3
31verrucous carcinoma10.3
32ataxia10.3
33deep leiomyoma10.2PCNA, TP53
34ovarian clear cell cystadenofibroma10.2CALB2, TP53
35hypercalcemia10.2
36pancreatitis10.2
37hepatitis c virus10.2
38myelodysplastic syndrome10.2
39osteoporosis10.2
40keratitis10.2
41hydrolethalus syndrome10.2
42gastroesophageal reflux10.2
43canavan disease10.2
44charcot-marie-tooth disease, type 1a10.2
45alcoholic liver cirrhosis10.2
46charcot-marie-tooth disease10.2
47glomerulonephritis10.2
48glycogen storage disease10.2
49leukemia10.2
50liver cirrhosis10.2

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:

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, Endothelial, B cells, T cells, Breast, Colon, Testis

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
Highly immunogenic variant of attenuated vaccinia virus. (27025484)
2016
2
First-trimester uterine artery Doppler examination in pregnancies complicated by gestational diabetes mellitus with or without pre-eclampsia. (23444238)
2013
3
Polymeric nanoparticles enhance the sonodynamic activity of meso-tetrakis (4-sulfonatophenyl) porphyrin in an in vitro neuroblastoma model. (24232189)
2013
4
The importance of interaction with membrane lipids through the pleckstrin homology domain of the guanine nucleotide exchange factor for rho family small guanosine triphosphatase, FLJ00018. (23811570)
2013
5
Periodontitis and gestational diabetes mellitus in non-smoking females. (23075430)
2013
6
Clinical significance of circulating blood and endothelial cell microparticles in sickle-cell disease. (24254379)
2013
7
Classification of sleep apnea using wavelet-based spectral analysis of heart rate variability. (23949174)
2013
8
Associations between fibrocytes and postcontrast myocardial T1 times in hypertrophic cardiomyopathy. (24125844)
2013
9
Evidence for multiple forms and modifications of human POT1. (24054699)
2013
10
Epicardial mass causing cardiac compression: an unusual involvement in lymphomatoid granulomatosis. (22412244)
2012
11
Purpura fulminans in a child due to Neisseria meningitidis. (22718363)
2012
12
Mutant allele-specific imbalance modulates prognostic impact of KRAS mutations in colorectal adenocarcinoma and is associated with worse overall survival. (22290300)
2012
13
Circulating levels of vascular endothelial growth factor A and its soluble receptor in patients with biopsy-proven nonalcoholic fatty liver disease. (21376261)
2011
14
Mechanism of p53 stabilization by ATM after DNA damage. (20081365)
2010
15
Influenza A induced acute autonomic neuropathy in an adolescent. (21093734)
2010
16
ITD- and FL-induced FLT3 signal transduction leads to increased C/EBPbeta-LIP expression and LIP/LAP ratio by different signalling modules. (19958352)
2010
17
Assessment of cardiac functions in sickle cell anemia with Doppler myocardial performance index. (19820140)
2010
18
Co-expression of nuclear and cytoplasmic HMGB1 is inversely associated with infiltration of CD45RO+ T cells and prognosis in patients with stage IIIB colon cancer. (20846416)
2010
19
Imatinib mesylate in patients with WHO B3 thymomas and thymic carcinomas. (20197733)
2009
20
Precursor IGF-II (proIGF-II) and mature IGF-II (mIGF-II) induce Bcl-2 And Bcl-X L expression through different signaling pathways in breast cancer cells. (18428028)
2008
21
Rivaroxaban: mode of action]. (19185786)
2008
22
The immunosuppressant drug FTY720 inhibits cytosolic phospholipase A2 independently of sphingosine-1-phosphate receptors. (17008548)
2007
23
Marked lipomatous infiltration of the right ventricle: MRI findings in relation to arrhythmogenic right ventricular dysplasia. (17449737)
2007
24
Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia. (17768112)
2007
25
Prenatal diagnosis of a fibrosarcoma of the thigh: a case report. (16968999)
2006
26
beta-Catenin, Nf-kappaB and FAS protein expression are independent events in head and neck cancer: study of their association with clinical parameters. (16253770)
2005
27
Increased plasma levels of LDL cholesterol in rabbits after adenoviral overexpression of human scavenger receptor class B type I. (16133421)
2005
28
Differing roles of protein kinase C-zeta in disruption of tight junction barrier by enteropathogenic and enterohemorrhagic Escherichia coli. (15362041)
2004
29
Transcription factor GATA-6, cell proliferation, apoptosis, and apoptosis-related proteins Bcl-2 and Bax in human fetal testis. (12679484)
2003
30
Treating viral hemorrhagic fever. (14600838)
2003
31
Coordination of altered DNA repair and damage pathways in arsenite-exposed keratinocytes. (12377979)
2002
32
Active Ras induces heterodimerization of cRaf and BRaf. (11325826)
2001
33
Platelet activating factor increases ciliary activity in the hamster oviduct through epithelial production of prostaglandin E2. (11484763)
2001
34
Lowered IL-4-producing T cells and decreased IL-4 secretion in peripheral blood from subjects with juvenile rheumatoid arthritis. (11360405)
2001
35
The molecular mechanism of lead inhibition of human porphobilinogen synthase. (11032836)
2001
36
Protection from septic shock by neutralization of macrophage migration inhibitory factor. (10655104)
2000
37
Tracheoesophageal fistula caused by a self-expanding esophageal stent. (10215238)
1999
38
Gastrin induces phosphorylation of eIF4E binding protein 1 and translation initiation of ornithine decarboxylase mRNA. (9619831)
1998
39
Epidermal nevus syndrome with hemangioma simplex. (9046747)
1997
40
Infectious posterior scleritis caused by Pseudallescheria boydii. Clinicopathologic findings. (9261319)
1997
41
Diffuse blisters and erosions in a patient with limited scleroderma. Penicillamine-induced pemphigus foliaceus (PIPF). (9126027)
1997
42
Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion. (8661020)
1996
43
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). (7633415)
1995
44
Purification of the anorectic agent satietin from bovine serum. (8029288)
1994
45
Increased interleukin 2 transcription in murine lymphocytes by ciprofloxacin. (8014029)
1994
46
Phaeochromocytoma crisis in Sipple's syndrome with intrauterine death and disseminated intravascular coagulation. (15636849)
1993
47
Characterization of the mouse thrombospondin 2 gene. (8486387)
1993
48
Cat-scratch disease diagnosis and treatment. (1493751)
1992
49
Genetic factors and smoking habits]. (1674558)
1991
50
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). (3114705)
1987

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
9.3ATR, ERCC4, PCNA, RPA1, RPA2
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, HMGA1, LMNA, TP53
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