XP-A
MCID: XRD018
MIFTS: 57

Xeroderma Pigmentosum, Group a (XP-A) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group a

Aliases & Descriptions for Xeroderma Pigmentosum, Group a:

Name: Xeroderma Pigmentosum, Group a 54 13 69
Xeroderma Pigmentosum Complementation Group a 12 66
Xeroderma Pigmentosum Group a 12 14
Xeroderma Pigmentosum I 66 29
Xp Group a 12 66
Xp1 12 66
Xeroderma Pigmentosum, Type 1 50
Xeroderma Pigmentosum 1 12
Xp-a 66
Xpa 12

Characteristics:

HPO:

32
xeroderma pigmentosum, group a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 278700
Disease Ontology 12 DOID:0110843
ICD10 33 Q82.1
MedGen 40 CN068460
MeSH 42 D014983

Summaries for Xeroderma Pigmentosum, Group a

OMIM : 54 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 ataxia, photophobia and intellectual disability. An important gene associated with Xeroderma Pigmentosum, Group a is XPA (XPA, DNA Damage Recognition And Repair Factor), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cellular Senescence. The drugs Lenalidomide and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and lung, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cellular

Disease Ontology : 12 A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has material basis in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22.

UniProtKB/Swiss-Prot : 66 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

Diseases in the Xeroderma Pigmentosum Group E family:

Xeroderma Pigmentosum, Group B 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 45)
id Related Disease Score Top Affiliating Genes
1 xpa-related xeroderma pigmentosum 12.1
2 xeroderma pigmentosum, variant type 11.5
3 xeroderma pigmentosum, group c 11.5
4 xeroderma pigmentosum, group b 11.4
5 xeroderma pigmentosum, group g 11.4
6 xeroderma pigmentosum, group f 11.4
7 xeroderma pigmentosum, type 9 10.8
8 congenital stationary night blindness 1h 10.2 XPA XPC
9 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 10.2 ERCC1 ERCC4
10 charcot-marie-tooth disease type 2a 10.2 ERCC1 ERCC4
11 myoclonic-atonic epilepsy 10.1 XPA XPC
12 cockayne syndrome 10.1
13 cerebrooculofacioskeletal syndrome 2 10.1 ERCC1 XPA XPC
14 bile acid malabsorption, primary 10.1 ERCC1 ERCC4 XPA
15 fanconi anemia, complementation group q 10.1 ERCC1 ERCC4 XPA
16 3-methylglutaconic aciduria, type iii 10.1 ERCC1 ERCC4 XPA
17 ataxia 10.0
18 progesterone resistance 10.0 ATM PCNA
19 dandy-walker syndrome 10.0 ATM ATR
20 pericardium leiomyoma 10.0 PCNA TP53
21 renal artery obstruction 10.0 ERCC1 ERCC4 XPA XPC
22 fallopian tube papillary adenocarcinoma 10.0 ERCC1 TP53
23 oro-mandibular-limb hypogenesis syndrome 10.0 PCNA TP53
24 mycobacterium kansasii 9.9 TP53 XPA XPC
25 inhibited male orgasm 9.9 PCNA TP53
26 pyloric antrum cancer 9.9 PCNA TP53
27 t-cell large granular lymphocyte leukemia 9.9 ERCC1 TP53 XPA
28 laryngitis 9.9
29 progeria 9.9
30 dystonia 9.9
31 lung cancer 9.9
32 neuronitis 9.9
33 ataxia-telangiectasia 9.9
34 dysautonomia 9.9
35 esophagitis 9.9
36 squamous cell carcinoma 9.9
37 basal cell carcinoma 9.9
38 villoglandular endometrial endometrioid adenocarcinoma 9.9 ATM TP53
39 amyloid tumor 9.8 PCNA TP53
40 childhood brain stem glioma 9.8 ATM TP53
41 retinitis 9.7
42 retinitis pigmentosa 9.7
43 epidermolysis bullosa, nonspecific, autosomal recessive 9.4 ATM ATR PCNA RPA2 TP53
44 retinitis pigmentosa 7 and digenic 9.4 ERCC1 ERCC4 RPA1 RPA2 TP53 XPA
45 bone marrow failure syndrome 2 8.6 ATM ATR ERCC1 ERCC4 HMGA1 PCNA

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



Diseases related to Xeroderma Pigmentosum, Group a

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group a

Symptoms by clinical synopsis from OMIM:

278700

Clinical features from OMIM:

278700

Human phenotypes related to Xeroderma Pigmentosum, Group a:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 photophobia 32 HP:0000613
3 intellectual disability 32 HP:0001249
4 spasticity 32 HP:0001257
5 microcephaly 32 HP:0000252
6 sensorineural hearing impairment 32 HP:0000407
7 keratitis 32 HP:0000491
8 conjunctivitis 32 HP:0000509
9 mental deterioration 32 HP:0001268
10 hyporeflexia 32 HP:0001265
11 cutaneous photosensitivity 32 HP:0000992
12 ectropion 32 HP:0000656
13 choreoathetosis 32 HP:0001266
14 telangiectasia 32 HP:0001009
15 poikiloderma 32 HP:0001029
16 dermal atrophy 32 HP:0004334
17 entropion 32 HP:0000621
18 defective dna repair after ultraviolet radiation damage 32 HP:0003079

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Group a according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 ATM ATR ERCC1 ERCC4 PCNA RPA1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 ATR ERCC1 ERCC4 PCNA RPA1 TP53
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 ATM ATR ERCC1 ERCC4 PCNA RPA1
4 Increased G1 DNA content GR00098-A-1 9.63 HMGA1 PCNA RPA1 RPA2 XPA XPC
5 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.26 ATM ATR

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.01 ATM ATR ERCC1 ERCC4 RPA1 TP53
2 growth/size/body region MP:0005378 9.97 ATM ATR ERCC1 ERCC4 PCNA TP53
3 adipose tissue MP:0005375 9.91 ATM ATR ERCC1 PCNA TP53 XPA
4 mortality/aging MP:0010768 9.81 PCNA RPA1 TP53 XPA XPC ATM
5 integument MP:0010771 9.8 ATM ATR ERCC1 TP53 XPA XPC
6 liver/biliary system MP:0005370 9.65 ATR ERCC1 ERCC4 TP53 XPA
7 neoplasm MP:0002006 9.5 ATM ATR ERCC1 RPA1 TP53 XPA
8 reproductive system MP:0005389 9.1 TP53 XPA ATM ATR ERCC1 PCNA

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 2
3 Angiogenesis Modulating Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Immunosuppressive Agents Phase 2
7 Sunscreening Agents
8 Dermatologic Agents
9 Protective Agents
10 Radiation-Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3
2 Lenalidomide in Kaposi Disease Associated With HIV Infection Terminated NCT01282047 Phase 2
3 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
4 Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population Not yet recruiting NCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Group a

Genetic Tests for Xeroderma Pigmentosum, Group a

Genetic tests related to Xeroderma Pigmentosum, Group a:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 1 29

Anatomical Context for Xeroderma Pigmentosum, Group a

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

39
Skin, Tongue, Lung, B Cells, Liver, Brain

Publications for Xeroderma Pigmentosum, Group a

Articles related to Xeroderma Pigmentosum, Group a:

(show top 50) (show all 70)
id Title Authors Year
1
Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. ( 26559182 )
2015
2
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. ( 24135642 )
2014
3
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
4
Progressive dysautonomia in two patients with xeroderma pigmentosum group A. ( 24679606 )
2014
5
Decreased repair of singlet oxygen-induced DNA damage in xeroderma pigmentosum group A cells determined by plasmid host cell reactivation. ( 22377136 )
2012
6
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. ( 21782366 )
2012
7
Neuroimaging features of xeroderma pigmentosum group A. ( 22574268 )
2012
8
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. ( 22168765 )
2012
9
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. ( 21148310 )
2011
10
Cyclosporin A inhibits nucleotide excision repair via downregulation of the xeroderma pigmentosum group A and G proteins, which is mediated by calcineurin inhibition. ( 21707758 )
2011
11
Proanthocyanidins inhibit photocarcinogenesis through enhancement of DNA repair and xeroderma pigmentosum group A-dependent mechanism. ( 20947490 )
2010
12
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. ( 20388774 )
2010
13
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. ( 19819090 )
2010
14
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. ( 20693538 )
2010
15
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. ( 20574439 )
2010
16
Checkpoint kinase ATR promotes nucleotide excision repair of UV-induced DNA damage via physical interaction with xeroderma pigmentosum group A. ( 19586908 )
2009
17
Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China. ( 17653764 )
2008
18
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. ( 18585952 )
2008
19
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). ( 18693251 )
2008
20
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. ( 18790090 )
2008
21
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. ( 17848622 )
2008
22
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. ( 18316597 )
2008
23
High-mobility group A1 proteins inhibit expression of nucleotide excision repair factor xeroderma pigmentosum group A. ( 17616660 )
2007
24
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
25
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. ( 16491090 )
2006
26
Thermodynamic properties of damaged DNA and its recognition by xeroderma pigmentosum group A protein and replication protein A. ( 16405861 )
2006
27
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. ( 15626539 )
2005
28
The photocarcinogenesis of antibiotic lomefloxacin and UVA radiation is enhanced in xeroderma pigmentosum group A gene-deficient mice. ( 16117798 )
2005
29
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. ( 16098033 )
2005
30
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. ( 15535132 )
2004
31
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. ( 15214909 )
2004
32
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. ( 14563950 )
2003
33
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. ( 14578172 )
2003
34
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. ( 12897146 )
2003
35
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. ( 11960916 )
2002
36
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. ( 12376498 )
2002
37
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). ( 11911469 )
2002
38
Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair. ( 12509227 )
2002
39
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. ( 12396616 )
2002
40
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. ( 11376684 )
2001
41
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. ( 11687625 )
2001
42
Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis. ( 11285190 )
2001
43
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. ( 11313422 )
2001
44
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
45
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. ( 10651981 )
2000
46
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
47
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). ( 10340474 )
1999
48
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. ( 10454612 )
1999
49
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. ( 10498252 )
1999
50
Ultraviolet radiation-induced suppression of natural killer cell activity is enhanced in xeroderma pigmentosum group A (XPA) model mice. ( 10383746 )
1999

Variations for Xeroderma Pigmentosum, Group a

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

66
id Symbol AA change Variation ID SNP ID
1 XPA p.Pro94Leu VAR_007727
2 XPA p.Cys108Phe VAR_007728 rs104894131
3 XPA p.Arg130Lys VAR_007729
4 XPA p.Gln185His VAR_007730 rs746617574
5 XPA p.His244Arg VAR_007731 rs144725456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Group a:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 GRCh38 Chromosome 9, 97684977: 97684977
2 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 GRCh37 Chromosome 9, 100451857: 100451857
3 XPA XPA, IVS1DS, T-G, +2 single nucleotide variant Pathogenic
4 XPA XPA, IVS3AS, G-C single nucleotide variant Pathogenic
5 XPA NM_000380.3(XPA): c.323G> T (p.Cys108Phe) single nucleotide variant Pathogenic rs104894131 GRCh37 Chromosome 9, 100451882: 100451882
6 XPA XPA, 5-BP DEL deletion Pathogenic
7 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 GRCh37 Chromosome 9, 100437861: 100437861
8 XPA NM_000380.3(XPA): c.545_546insTA (p.Leu182Phefs) insertion Pathogenic rs786205205 GRCh37 Chromosome 9, 100449387: 100449388
9 XPC NM_004628.4(XPC): c.2034-1G> A single nucleotide variant Likely pathogenic rs869025275 GRCh38 Chromosome 3, 14152417: 14152417
10 XPA NM_000380.3(XPA): c.390-1G> C single nucleotide variant Pathogenic rs750218942 GRCh37 Chromosome 9, 100449544: 100449544
11 XPA NM_000380.3(XPA): c.335_338delTTATinsCATAAGAAA (p.Phe112Serfs) indel Pathogenic rs886039226 GRCh37 Chromosome 9, 100451867: 100451870
12 XPA NM_000380.3(XPA): c.648_649delGA (p.Lys217Glufs) deletion Likely pathogenic rs1057519018 GRCh37 Chromosome 9, 100447229: 100447230

Expression for Xeroderma Pigmentosum, Group a

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

Pathways for Xeroderma Pigmentosum, Group a

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

(show all 44)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 ATM ATR PCNA RPA1 RPA2 TP53
2
Show member pathways
13.03 ATM ATR HMGA1 RPA1 RPA2 TP53
3
Show member pathways
12.96 ATM ATR ERCC1 ERCC4 PCNA RPA1
4
Show member pathways
12.86 ATM ATR PCNA RPA1 RPA2 TP53
5
Show member pathways
12.82 ATM ATR PCNA TP53 XPC
6
Show member pathways
12.71 ERCC1 ERCC4 PCNA RPA1 RPA2 XPA
7
Show member pathways
12.55 ATM ATR RPA1 RPA2 TP53
8
Show member pathways
12.49 PCNA RPA1 TP53 XPC
9
Show member pathways
12.48 ATM PCNA RPA1 RPA2 TP53
10
Show member pathways
12.42 ATM ATR RPA1 RPA2
11 12.35 ATM ATR PCNA TP53
12
Show member pathways
12.3 ATR PCNA RPA1 RPA2
13
Show member pathways
12.29 ATM ATR RPA2 TP53
14 12.28 ATM ATR PCNA TP53
15
Show member pathways
12.22 ATM ATR TP53
16
Show member pathways
12.22 ATM ATR ERCC1 ERCC4 PCNA RPA2
17
Show member pathways
12.21 ATM HMGA1 TP53
18
Show member pathways
12.16 ATM ATR ERCC1 ERCC4 PCNA RPA1
19
Show member pathways
12.15 PCNA RPA1 RPA2
20
Show member pathways
12.13 ATM ATR TP53
21
Show member pathways
12.13 ATM ATR RPA1 RPA2
22 12.04 ATM ATR TP53
23
Show member pathways
12.03 ATM RPA1 RPA2
24 12.01 ATM ATR PCNA TP53 XPC
25 11.86 HMGA1 PCNA TP53
26
Show member pathways
11.82 PCNA RPA1 RPA2
27 11.79 ATM ATR ERCC1 ERCC4 PCNA RPA1
28 11.78 PCNA RPA1 RPA2 TP53
29
Show member pathways
11.76 ERCC1 ERCC4 PCNA RPA1 RPA2 XPA
30
Show member pathways
11.74 ATM ATR TP53
31 11.74 ATR ERCC1 ERCC4 RPA1 RPA2
32 11.69 ATM ERCC1 TP53 XPA
33 11.64 ATM ATR TP53 XPA XPC
34 11.56 ATM ATR TP53
35 11.45 ATM ATR TP53
36 11.44 ATM ATR PCNA TP53
37
Show member pathways
11.43 ATM ATR TP53
38 11.26 ATM ATR PCNA TP53
39 11.21 ERCC1 ERCC4 XPA
40
Show member pathways
11.18 ERCC1 ERCC4
41 11.17 ATM ATR PCNA TP53
42 11.04 ATM ATR
43
Show member pathways
11.02 ATM TP53
44 11 ATM ATR TP53

GO Terms for Xeroderma Pigmentosum, Group a

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ATM ATR ERCC1 ERCC4 HMGA1 PCNA
2 chromosome, telomeric region GO:0000781 9.65 ATM ERCC4 RPA2
3 PML body GO:0016605 9.62 ATR RPA1 RPA2 TP53
4 transcription factor TFIID complex GO:0005669 9.58 ERCC1 ERCC4 TP53
5 replication fork GO:0005657 9.49 PCNA TP53
6 nucleotide-excision repair complex GO:0000109 9.46 ERCC1 ERCC4
7 ERCC4-ERCC1 complex GO:0070522 9.43 ERCC1 ERCC4
8 DNA replication factor A complex GO:0005662 9.43 RPA1 RPA2 XPA
9 nucleotide-excision repair factor 1 complex GO:0000110 9.33 ERCC1 ERCC4 XPA
10 nuclear chromosome, telomeric region GO:0000784 9.17 ATM ATR ERCC1 ERCC4 PCNA RPA1
11 nucleus GO:0005634 10.11 ATM ATR ERCC1 ERCC4 HMGA1 PCNA

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

(show top 50) (show all 51)
id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.97 ATM ATR PCNA RPA1 RPA2
2 regulation of signal transduction by p53 class mediator GO:1901796 9.93 ATM ATR RPA1 RPA2 TP53
3 double-strand break repair via homologous recombination GO:0000724 9.91 ATM ERCC4 RPA1 RPA2
4 transcription-coupled nucleotide-excision repair GO:0006283 9.91 ERCC1 ERCC4 PCNA RPA1 RPA2 XPA
5 regulation of cellular response to heat GO:1900034 9.9 ATM ATR RPA1 RPA2
6 response to oxidative stress GO:0006979 9.88 ERCC1 PCNA XPA
7 interstrand cross-link repair GO:0036297 9.88 ATR ERCC1 ERCC4 RPA1 RPA2
8 DNA recombination GO:0006310 9.87 ERCC1 RPA1 RPA2
9 multicellular organism growth GO:0035264 9.86 ATM ERCC1 XPA
10 cellular response to UV GO:0034644 9.86 ATR ERCC4 PCNA TP53
11 double-strand break repair via nonhomologous end joining GO:0006303 9.85 ATM ERCC1 ERCC4
12 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.85 ATM PCNA TP53
13 telomere maintenance GO:0000723 9.85 ERCC4 PCNA RPA1 RPA2
14 base-excision repair GO:0006284 9.85 HMGA1 RPA1 RPA2 TP53 XPA
15 DNA damage response, detection of DNA damage GO:0042769 9.83 PCNA RPA1 RPA2
16 translesion synthesis GO:0019985 9.83 PCNA RPA1 RPA2
17 telomere maintenance via recombination GO:0000722 9.83 PCNA RPA1 RPA2
18 mismatch repair GO:0006298 9.83 PCNA RPA1 RPA2 XPC
19 global genome nucleotide-excision repair GO:0070911 9.81 ERCC1 ERCC4 XPA XPC
20 DNA repair GO:0006281 9.81 ATM ATR ERCC1 ERCC4 PCNA RPA1
21 cellular response to gamma radiation GO:0071480 9.8 ATM ATR TP53
22 nucleotide-excision repair, DNA gap filling GO:0006297 9.8 PCNA RPA1 RPA2
23 nucleotide-excision repair, preincision complex assembly GO:0006294 9.8 RPA1 RPA2 XPA XPC
24 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.8 ERCC1 ERCC4 RPA1 RPA2 XPA
25 nucleotide-excision repair, DNA incision GO:0033683 9.8 ERCC1 ERCC4 PCNA RPA1 RPA2 XPA
26 error-prone translesion synthesis GO:0042276 9.79 PCNA RPA1 RPA2
27 error-free translesion synthesis GO:0070987 9.79 PCNA RPA1 RPA2
28 UV protection GO:0009650 9.77 ERCC1 ERCC4 XPA
29 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.77 ERCC1 ERCC4 RPA1 RPA2 XPA
30 replicative senescence GO:0090399 9.76 ATM ATR TP53
31 UV-damage excision repair GO:0070914 9.75 ERCC1 XPA XPC
32 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.73 ERCC1 ERCC4 PCNA RPA1 RPA2 XPA
33 positive regulation of telomere maintenance via telomerase GO:0032212 9.71 ATM ATR
34 nucleotide-excision repair, DNA damage recognition GO:0000715 9.71 XPA XPC
35 response to X-ray GO:0010165 9.71 ERCC1 TP53
36 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.7 XPA XPC
37 negative regulation of telomerase activity GO:0051974 9.7 ERCC4 TP53
38 determination of adult lifespan GO:0008340 9.69 ATM TP53
39 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.69 ATM ATR
40 response to auditory stimulus GO:0010996 9.69 XPA XPC
41 mitotic G1 DNA damage checkpoint GO:0031571 9.68 RPA2 TP53
42 protein localization to chromosome GO:0034502 9.68 RPA1 RPA2
43 negative regulation of telomere maintenance GO:0032205 9.67 ERCC1 ERCC4
44 telomeric DNA-containing double minutes formation GO:0061819 9.67 ERCC1 ERCC4
45 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.66 ERCC1 ERCC4
46 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 ERCC4 XPA
47 cellular response to DNA damage stimulus GO:0006974 9.65 ATM ATR ERCC1 ERCC4 PCNA RPA1
48 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.64 ATM ATR
49 establishment of RNA localization to telomere GO:0097694 9.64 ATM ATR
50 establishment of macromolecular complex localization to telomere GO:0097695 9.63 ATM ATR

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.78 HMGA1 PCNA RPA2 TP53
2 DNA binding GO:0003677 9.7 ATM ATR ERCC1 ERCC4 HMGA1 PCNA
3 protein N-terminus binding GO:0047485 9.56 ATM ERCC4 RPA2 TP53
4 single-stranded DNA binding GO:0003697 9.55 ERCC1 ERCC4 RPA1 RPA2 XPC
5 histone acetyltransferase binding GO:0035035 9.51 PCNA TP53
6 G-rich strand telomeric DNA binding GO:0098505 9.46 RPA1 RPA2
7 TFIID-class transcription factor binding GO:0001094 9.43 ERCC1 ERCC4
8 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.4 ERCC1 ERCC4
9 MutLalpha complex binding GO:0032405 9.37 ATR PCNA
10 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.32 ERCC1 ERCC4
11 damaged DNA binding GO:0003684 9.23 ERCC1 ERCC4 PCNA RPA1 RPA2 TP53
12 protein binding GO:0005515 10.24 ATM ATR ERCC1 ERCC4 HMGA1 PCNA

Sources for Xeroderma Pigmentosum, Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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