XP
MCID: XRD018
MIFTS: 60

Xeroderma Pigmentosum, Group a (XP) malady

Neuronal, Eye, Skin, Fetal, Cancer categories

Summaries for Xeroderma Pigmentosum, Group a

Sources:
47OMIM, 33MalaCards
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MalaCards: Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum and cockayne syndrome, and has symptoms including autosomal recessive inheritance, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and eeg anomalies. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (xeroderma pigmentosum, complementation group A), and among its related pathways are Assembly of the RAD51-ssDNA nucleoprotein complex and DNA damage DNA-damage-induced responses. The compounds cpds and glutamate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and tongue, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Description from OMIM:47 278700, 194400, 278720, 278730, 278740 278750, 278760, 278780, 610651 more

Aliases & Classifications for Xeroderma Pigmentosum, Group a

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Neuronal, Eye, Skin


Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

xeroderma pigmentosum, group a 47
xeroderma pigmentosum 49 47
xeroderma pigmentosum complementation group a 49
xpa 49
xp 49


External Ids:

ICD10 via Orphanet26 Q82.1
MESH via Orphanet36 D014983
SNOMED-CT via Orphanet58 44600005
UMLS via Orphanet62 C0043346

Related Diseases for Xeroderma Pigmentosum, Group a

Sources:
17GeneCards, 18GeneDecks
See all sources

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 160)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum31.8ERCC4, PTCH1, RPA2, RPA1, PSAP, XPA
2cockayne syndrome30.8XPA, ERCC4, XPC
3fanconi's anemia30.8ERCC4, PTCH1, TOP1, PSAP, FANCC
4adenocarcinoma30.5CALB2, XPA, XPC, PCNA, HMGA1, PTCH1
5bloom syndrome30.4RECQL4
6basal cell carcinoma30.4PTCH1
7nevoid basal cell carcinoma syndrome30.4PTCH1
8progeria30.4LMNA
9ataxia telangiectasia30.4ATR, TOP1, PRKDC, XPA, FANCC, RPA1
10squamous cell carcinoma30.4TOP1, XPA, ERCC4, PTCH1, PCNA, CALB2
11deficiency anemia30.2FANCC
12astrocytoma30.2XPC, PCNA
13colorectal cancer30.2TOP1, PCNA, XPC
14werner syndrome30.2RPA1, TOP1, PRKDC, RECQL4, LMNA
15xeroderma pigmentosum, group g11.2
16xeroderma pigmentosum, group c11.1
17xeroderma pigmentosum, group d11.1
18xeroderma pigmentosum, group f11.0
19xeroderma pigmentosum, group b10.8
20xeroderma pigmentosum, variant type10.7
21angiosarcoma10.6
22xeroderma pigmentosum type 710.6
23xeroderma pigmentosum, group g/cockayne syndrome10.5
24xeroderma pigmentosum, group e, ddb-negative subtype10.5
25n syndrome10.5
26ataxia10.5
27chromosome xp deletion10.4
28skin squamous cell carcinoma10.4
29cockayne syndrome type i10.4
30xeroderma pigmentosum, type 910.4
31xeroderma pigmentosum, type 110.4
32xpc-related xeroderma pigmentosum10.4
33ercc1-related xeroderma pigmentosum10.4
34char syndrome10.3
35radiation induced cancer10.3
36xeroderma pigmentosum, type 210.3
37xeroderma pigmentosum, type 310.3
38xeroderma pigmentosum, type 510.3
39xeroderma pigmentosum, type 610.3
40xpa-related xeroderma pigmentosum10.3
41ercc3-related xeroderma pigmentosum10.3
42ercc2-related xeroderma pigmentosum10.3
43ddb2-related xeroderma pigmentosum10.3
44ercc4-related xeroderma pigmentosum10.3
45ercc5-related xeroderma pigmentosum10.3
46polh-related xeroderma pigmentosum10.3
47xeroderma pigmentosum, type f/cockayne syndrome10.3
48fanconi syndrome10.3
49t cell deficiency10.3
50nevo syndrome10.3

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



Diseases related to xeroderma pigmentosum, group a

Clinical Features for Xeroderma Pigmentosum, Group a

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

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

Clinical synopsis from OMIM:

194400

Symptoms:

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

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Xeroderma Pigmentosum, Group a

Drug clinical trials:

Search ClinicalTrials for Xeroderma Pigmentosum, Group a

Search NIH Clinical Center for Xeroderma Pigmentosum, Group a

Search CenterWatch for Xeroderma Pigmentosum, Group a

Genetic Tests for Xeroderma Pigmentosum, Group a

Anatomical Context for Xeroderma Pigmentosum, Group a

Sources:
33MalaCards
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MalaCards organs/tissues related to Xeroderma Pigmentosum, Group a:

33
Skin, Liver, Tongue, Lung, Breast, Prostate, B cells

Animal Models for Xeroderma Pigmentosum, Group a or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4XPA, ATR
2MP:000537910.0HMGA1, PSAP, FANCC
3MP:00053759.8LMNA, TPH1, PRKDC
4MP:00020069.7RPA1, ATR, RECQL4, HMGA1, PTCH1
5MP:00053889.5ATR, TPH1, PSAP
6MP:00107719.2XPC, ATR, TPH1, PTCH1, RECQL4, PRKDC
7MP:00053899.2ATR, PSAP, FANCC, PCNA, PTCH1
8MP:00053829.0LMNA, RECQL4, PRKDC, XPA, ATR, PTCH1
9MP:00053818.9PSAP, ATR, PRKDC, LMNA, RECQL4, PTCH1
10MP:00053708.9ATR, PSAP, ERCC4, LMNA, PRKDC, XPA
11MP:00053918.9PTCH1, CPOX, LMNA, RECQL4, PRKDC, XPC
12MP:00053698.8PTCH1, PRKDC, PSAP, PVALB, LMNA, TPH1
13MP:00036318.7PTCH1, PVALB, CALB2, PSAP, PRKDC
14MP:00053908.6PRKDC, ATR, LMNA, PSAP, FANCC, XPA
15MP:00053977.9PSAP, RECQL4, PTCH1, FANCC, HMGA1, LMNA
16MP:00053867.9PVALB, ATR, XPA, PRKDC, LMNA, PTCH1
17MP:00053877.8ATR, PRKDC, RECQL4, PCNA, PTCH1, FANCC
18MP:00053787.7RECQL4, PTCH1, ERCC4, TPH1, HMGA1, LMNA
19MP:00053847.6ATR, RPA1, PVALB, XPC, RECQL4, ERCC4
20MP:00107687.5PTCH1, XPA, PCNA, ERCC4, LMNA, RECQL4

Publications for Xeroderma Pigmentosum, Group a

Sources:
51PubMed
See all sources

Articles related to Xeroderma Pigmentosum, Group a:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Effect of Xeroderma pigmentosum complementation group F polymorphisms on gastric cancer risk and associations with H.pylori infection. (23679285)
2013
2
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. (23889214)
2013
3
Loss of the xeroderma pigmentosum group B protein binding site impairs p210 BCR/ABL1 leukemogenic activity. (23955590)
2013
4
Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis. (24347488)
2013
5
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. (21782366)
2012
6
Poly(ADP-ribose) contributes to an association between poly(ADP-ribose) polymerase-1 and xeroderma pigmentosum complementation group A in nucleotide excision repair. (23038248)
2012
7
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities. (22417308)
2012
8
Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer. (21751198)
2012
9
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. (20054342)
2010
10
1-Methyl-4-phenyl-pyridinium time-dependently alters expressions of oxoguanine glycosylase 1 and xeroderma pigmentosum group F protein in PC12 cells. (20101267)
2010
11
Polymorphism in xeroderma pigmentosum complementation group C codon 939 and aflatoxin B1-related hepatocellular carcinoma in the Guangxi population. (20658464)
2010
12
DNA repair gene xeroderma pigmentosum group D 751 polymorphism and the risk on esophageal cancer: a meta-analysis]. (19642387)
2009
13
Arsenite and its mono- and dimethylated trivalent metabolites enhance the formation of benzo[a]pyrene diol epoxide-DNA adducts in Xeroderma pigmentosum complementation group A cells. (19146383)
2009
14
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. (17848622)
2008
15
Xeroderma pigmentosum complementation group C genotypes/diplotypes play no independent or interaction role with polycyclic aromatic hydrocarbons-DNA adducts for breast cancer risk. (18053706)
2008
16
Protein expression levels of excision repair cross-complementation group 1 and xeroderma pigmentosum D correlate with response to platinum-based chemotherapy in the patients with advanced epithelial ovarian cancer. (18081788)
2008
17
Xeroderma pigmentosum complementation group G in association with malignant melanoma. (17951140)
2007
18
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. (16793369)
2006
19
Xeroderma pigmentosum group D haplotype predicts for response, survival, and toxicity after platinum-based chemotherapy in advanced nonsmall cell lung cancer. (16649224)
2006
20
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
21
Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. (17154534)
2006
22
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. (15731165)
2005
23
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. (16098033)
2005
24
DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites, and compound lesions in DNA. (16223728)
2005
25
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. (16117798)
2005
26
Xeroderma pigmentosum complementation group E protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair properties. (16260596)
2005
27
Crystallization of the xeroderma pigmentosum group F endonuclease from Aeropyrum pernix. (15333947)
2004
28
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. (14578172)
2003
29
Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. (12890685)
2003
30
Xeroderma pigmentosum complementation group A protein (XPA) modulates RPA-DNA interactions via enhanced complex stability and inhibition of strand separation activity. (11859086)
2002
31
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. (11960916)
2002
32
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. (11687625)
2001
33
A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. (11751380)
2001
34
Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum group E strains. (11704828)
2001
35
A truncated human xeroderma pigmentosum complementation group A protein expressed from an adenovirus sensitizes human tumor cells to ultraviolet light and cisplatin. (11212280)
2001
36
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
37
Xeroderma pigmentosum complementation group A protein acts as a processivity factor. (10814539)
2000
38
Mutational analysis of a function of xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair. (9753735)
1998
39
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. (9804340)
1998
40
Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay. (9427533)
1997
41
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. (8663148)
1996
42
Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient. (7947212)
1994
43
Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. (8088800)
1994
44
Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene. (7519740)
1994
45
A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q. (7829076)
1994
46
Alteration of a DNA-dependent ATPase activity in xeroderma pigmentosum complementation group C cells. (1310977)
1992
47
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
48
Restoration of proliferating cell nuclear antigen (PCNA) complex formation in xeroderma pigmentosum group A cells following cis-diamminedichloroplatinum (II)-treatment by cell fusion with normal cells. (1354671)
1992
49
Mutational analysis of the structure and function of the Xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair. (1601884)
1992
50
Radiation-induced chromatid aberrations in Cockayne syndrome and xeroderma pigmentosum group C fibroblasts in relation to cancer predisposition. (1756475)
1991

Genetic Variations for Xeroderma Pigmentosum, Group a

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Xeroderma Pigmentosum, Group a:

63
id Symbol AA change Variation SNP ID
1XPAp.Pro94LeuVAR_007727
2XPAp.Cys108PheVAR_007728
3XPAp.Arg130LysVAR_007729
4XPAp.Gln185HisVAR_007730
5XPAp.His244ArgVAR_007731

Expression for genes affiliated with Xeroderma Pigmentosum, Group a

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 30KEGG, 4Cell Signaling Technology
See all sources

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1RPA1, RPA2
29.9PRKDC, ATR
3
Transcription P53 signaling pathway
Hide members
9.9ATR, XPC, XPA
4
Hide members
9.9RPA2, RPA1, ATR
5
Hide members
9.8PRKDC, RPA1, RPA2
6
Hide members
9.6RPA2, RPA1, PCNA
7
Hide members
9.6RPA2, RPA1, PCNA
8
Hide members
9.6PCNA, RPA1, RPA2
9
DNA damage Role of Brca1 and Brca2 in DNA repair
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9.5PCNA, ATR, XPC
10
Apoptosis and survival Caspase cascade
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9.5LMNA, PRKDC, TOP1
119.4RPA2, RPA1, FANCC, ATR, ERCC4
12
Hide members
9.3RPA2, XPC, PCNA, ERCC4
13
Hide members
9.1FANCC, ATR, PRKDC, PCNA
14
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9.0RPA2, RPA1, ATR, PCNA, LMNA
15
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9.0RPA2, RPA1, ATR, PCNA, LMNA
16
Hide members
9.0LMNA, PCNA, ATR, RPA1, RPA2
17
Hide members
8.4RPA2, FANCC, XPA, XPC, ATR, PRKDC
18
Hide members
8.3PRKDC, ATR, XPC, RPA1, RPA2, PCNA
19
Hide members
8.2ERCC4, RPA2, RPA1, FANCC, XPA, XPC

Compounds for genes affiliated with Xeroderma Pigmentosum, Group a

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB, 29IUPHAR
See all sources

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

(show all 31)
idCompoundScoreTop Affiliating Genes
1cpds4510.4RPA1, XPA
2glutamate4510.4XPA, TPH1
3dbds4510.3RPA1, HMGA1
4psoralen4510.3ERCC4, XPA
52-acetylaminofluorene4510.3XPC, XPA
67-hydroxystaurosporine45 1111.0TOP1, RPA2
7cyanine459.9PVALB, CALB2
8melphalan45 1110.9ERCC4, TOP1, FANCC
9methylmethanesulfonate459.9RPA1, ATR, PCNA
10rpa 2459.7RPA2, RPA1, ATR, PCNA
11aphidicolin459.6PCNA, ATR, TOP1, RPA2
12thymidylate459.5RPA1, TOP1, PCNA, ERCC4
13etoposide45 50 60 1112.3RPA2, RPA1, TOP1, ATR, PCNA
14mitomycin c459.3FANCC, XPA, TOP1, PCNA, ERCC4
15ethanol45 50 11 2412.3PVALB, CALB2, TPH1, CPOX
16choline45 11 2411.3PVALB, CALB2, PSAP, TPH1, CPOX
17cytarabine45 50 1111.3PCNA, ATR, TOP1
18wortmannin459.3RPA2, PSAP, XPC, ATR
19silver459.3PVALB, CALB2, PCNA
20oligonucleotide459.2PCNA, XPC, XPA, PSAP, RPA1, RPA2
21hydroxyurea45 50 1111.2RECQL4, PCNA, ATR, TOP1, RPA1, RPA2
22h2o2459.2CPOX, TPH1, RECQL4, PCNA, TOP1
23atp45 2910.1RPA1, PVALB, PSAP, XPA, XPC, LMNA
24camptothecin45 60 1111.1RPA2, RPA1, TOP1, ATR, PRKDC, PCNA
25arginine459.0CPOX, TPH1, HMGA1, LMNA, PCNA, PSAP
26cisplatin45 50 60 1112.0RPA1, XPA, XPC, TOP1, PCNA, ERCC4
27nitric oxide45 11 2411.0CPOX, TPH1, PRKDC, CALB2, PVALB, RPA1
28zinc45 249.9RPA2, RPA1, PVALB, CALB2, XPA, LMNA
29serine458.5RPA2, PVALB, PSAP, ATR, PRKDC, LMNA
30calcium45 50 11 2411.2CALB2, PSAP, XPC, LMNA, HMGA1, TPH1
31tyrosine458.2RPA2, RPA1, PVALB, CALB2, PSAP, XPC

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group a

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:0166059.9ATR, RPA1, RPA2
2DNA replication factor A complexGO:0056629.8RPA2, RPA1
3nucleoplasmGO:0056547.2ERCC4, RPA2, RPA1, FANCC, XPA, XPC

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA-dependent DNA replicationGO:00626110.1RPA1, RPA2
2DNA recombinase assemblyGO:00073010.0RPA1, RPA2
3double-strand break repair via homologous recombinationGO:0007249.9RPA2, ERCC4, RPA1
4nucleotide-excision repair, DNA damage removalGO:0007189.8XPC, XPA, RPA1, RPA2, ERCC4
5telomere maintenance via semi-conservative replicationGO:0322019.8PCNA, RPA1, RPA2
6nucleotide-excision repair, DNA gap fillingGO:0062979.7RPA2, PCNA, RPA1
7telomere maintenance via recombinationGO:0007229.7RPA1, RPA2, PCNA
8DNA strand elongation involved in DNA replicationGO:0062719.6RPA2, PCNA, RPA1
9transcription-coupled nucleotide-excision repairGO:0062839.6PCNA, ERCC4, RPA1, RPA2
10double-strand break repairGO:0063029.5PRKDC, RPA1, RPA2
11telomere maintenanceGO:0007239.3PRKDC, ERCC4, PCNA, RPA1, RPA2
12DNA replicationGO:0062609.0RECQL4, RPA2, RPA1, TOP1, PCNA, ATR
13nucleotide-excision repairGO:0062899.0FANCC, XPA, PCNA, RPA1, RPA2, ERCC4
14DNA repairGO:0062818.3FANCC, RECQL4, PCNA, PRKDC, ATR, XPC

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

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:0036849.9ERCC4, XPC, XPA
2bubble DNA bindingGO:0004059.8XPC, RECQL4
3single-stranded DNA bindingGO:0036979.7ERCC4, XPC, RPA1, RPA2
4MutLalpha complex bindingGO:0324059.6ATR, PCNA
5protein bindingGO:0055157.0RPA1, FANCC, XPA, XPC, TOP1, ATR

Products for genes affiliated with Xeroderma Pigmentosum, Group a

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Xeroderma Pigmentosum, Group a

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet