MCID: XRD018
MIFTS: 59

Xeroderma Pigmentosum, Group a

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group a

MalaCards integrated aliases for Xeroderma Pigmentosum, Group a:

Name: Xeroderma Pigmentosum, Group a 54 13 69
Xeroderma Pigmentosum Complementation Group a 12 71
Xeroderma Pigmentosum Group a 12 14
Xeroderma Pigmentosum, Type 1 50 29
Xp Group a 12 71
Xp1 12 71
Xeroderma Pigmentosum 1 12
Xeroderma Pigmentosum I 71
Xp-a 71
Xpa 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive
with at least 4 loci


HPO:

32
xeroderma pigmentosum, group a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Group a

OMIM : 54
Xeroderma pigmentosum is a genetically heterogeneous autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Some patients develop neurologic symptoms or a more severe clinical phenotype known as de Sanctis-Cacchione syndrome (278800) (Satokata et al., 1992). See also XPB (610651), XPC (278720), XPD (278730), XPE (278740), XPF (278760), XPG (278780), and variant XP (XPV; 278750). (278700)

MalaCards based summary : Xeroderma Pigmentosum, Group a, also known as xeroderma pigmentosum complementation group a, is related to xeroderma pigmentosum, group b and xpa-related xeroderma pigmentosum, and has symptoms including ataxia, hyporeflexia and spasticity. 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 DNA Double-Strand Break Repair. 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

UniProtKB/Swiss-Prot : 71 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.

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.

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 49)
id Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, group b 31.9 ERCC1 XPA
2 xpa-related xeroderma pigmentosum 12.0
3 xeroderma pigmentosum, variant type 11.5
4 xeroderma pigmentosum, group c 11.4
5 xeroderma pigmentosum, group g 11.4
6 xeroderma pigmentosum, group f 11.4
7 xeroderma pigmentosum, type 9 10.8
8 sugarman brachydactyly 10.5 XPA XPC
9 fanconi anemia, complementation group q 10.5 ERCC1 ERCC4
10 ceroid storage disease 10.4 ERCC1 ERCC4
11 myoclonic-atonic epilepsy 10.3 XPA XPC
12 cerebrooculofacioskeletal syndrome 2 10.2 ERCC1 XPA XPC
13 xfe progeroid syndrome 10.2 ERCC1 ERCC4 XPA
14 cerebrooculofacioskeletal syndrome 3 10.2 ERCC1 ERCC4 XPA
15 eccrine papillary adenocarcinoma 10.2 ERCC1 TP53
16 asthenopia 10.1 TP53 XPA
17 cockayne syndrome 10.1
18 ataxia 10.0
19 chest wall lymphoma 10.0 ATM TP53
20 mycetoma 10.0 TP53 XPA XPC
21 brenner tumor of the vagina 10.0 ATM TP53
22 brenner tumor of ovary 10.0 ATM TP53
23 pleomorphic adenoma carcinoma 9.9 ERCC1 ERCC4 XPA XPC
24 bullous keratopathy 9.9 TP53 XPA
25 distal monosomy 7q36 9.9 ERCC1 TP53
26 hepatic osteogenic sarcoma 9.9 ATM TP53
27 esophagitis 9.9
28 squamous cell carcinoma 9.9
29 basal cell carcinoma 9.9
30 laryngitis 9.9
31 lung cancer 9.9
32 dystonia 9.9
33 neuronitis 9.9
34 germ cells tumors 9.9
35 multiple self-healing squamous epithelioma 9.9
36 ataxia-telangiectasia 9.9
37 dysautonomia 9.9
38 biliary dyskinesia 9.9 ATM TP53
39 hypolipoproteinemia 9.9 TP53 XPC
40 duodenal ulcer 9.8 ATM TP53
41 mixed cerebral palsy 9.7 ATM ERCC4 TP53
42 norrie disease 9.7
43 retinitis pigmentosa 9.7
44 retinitis 9.7
45 mental retardation, autosomal recessive 45 9.4 ATM ERCC1 ERCC4 LMNA
46 lymphoplasmacytic lymphoma 9.4 ERCC1 LMNA TP53 XPA
47 short-rib thoracic dysplasia 3 with or without polydactyly 9.2 ATM ATR RPA2 TP53
48 anemia, hemolytic, rh-null, regulator type 8.6 ERCC1 ERCC4 RPA1 RPA2 TP53 XPA
49 3-methylglutaconic aciduria, type i 6.2 ATM ATR ERCC1 ERCC4 HMGA1 LMNA

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 via clinical synopsis from OMIM:

54

Neuro:
ataxia
hyporeflexia
spasticity
choreoathetosis
microcephaly
more
Eyes:
entropion
photophobia
conjunctivitis
ectropion
keratitis

Lab:
defective dna repair after ultraviolet radiation damage

Skin:
skin atrophy
keratoacanthomas
skin photosensitivity
early onset skin cancer (basal cell, squamous cell and malignant melanoma)
early freckle-like lesions in exposed areas
more
Misc:
minimal to severe neurologic features


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

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 9.7 RPA1 TP53 ATM ATR ERCC1 ERCC4
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 TP53 ATM ATR ERCC1 ERCC4 RPA1
3 Increased G1 DNA content GR00098-A-1 9.63 HMGA1 LMNA RPA1 RPA2 XPA XPC
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.61 ATR ERCC1 ERCC4 RPA1 RPA2 TP53
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 10.06 ATM ATR ERCC1 ERCC4 LMNA RPA1
2 growth/size/body region MP:0005378 9.97 ATM ATR ERCC1 ERCC4 LMNA TP53
3 adipose tissue MP:0005375 9.91 ATR ERCC1 LMNA TP53 XPA ATM
4 integument MP:0010771 9.87 ATM ATR ERCC1 LMNA TP53 XPA
5 mortality/aging MP:0010768 9.81 ATM ATR ERCC1 ERCC4 LMNA RPA1
6 liver/biliary system MP:0005370 9.73 ATR ERCC1 ERCC4 LMNA TP53 XPA
7 neoplasm MP:0002006 9.5 ATM ATR ERCC1 RPA1 TP53 XPA
8 pigmentation MP:0001186 8.92 LMNA TP53 XPA ATR

Drugs & Therapeutics for Xeroderma Pigmentosum, Group a

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

(show all 11)
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
Midazolam Approved, Illicit 59467-70-8 4192
8 Dermatologic Agents
9 Protective Agents
10 Radiation-Protective Agents
11 Sunscreening Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
2 Lenalidomide in Kaposi Disease Associated With HIV Infection Terminated NCT01282047 Phase 2 Lenalidomide
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
5 Actinic Cheilitis Pre-Treated With DNA Repair Enzyme Cream Not yet recruiting NCT03224715

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, Liver, Brain, B Cells

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
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
3
Progressive dysautonomia in two patients with xeroderma pigmentosum group A. ( 24679606 )
2014
4
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. ( 24135642 )
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
Neuroimaging features of xeroderma pigmentosum group A. ( 22574268 )
2012
7
Prenatal diagnosis of xeroderma pigmentosum group A in Japan. ( 22168765 )
2012
8
Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. ( 21782366 )
2012
9
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
10
Nucleotide excision repair by mutant xeroderma pigmentosum group A (XPA) proteins with deficiency in interaction with RPA. ( 21148310 )
2011
11
Proanthocyanidins inhibit photocarcinogenesis through enhancement of DNA repair and xeroderma pigmentosum group A-dependent mechanism. ( 20947490 )
2010
12
Localization of xeroderma pigmentosum group A protein and replication protein A on damaged DNA in nucleotide excision repair. ( 20693538 )
2010
13
Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A. ( 19819090 )
2010
14
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms. ( 20574439 )
2010
15
Melanocyte-stimulating hormone directly enhances UV-Induced DNA repair in keratinocytes by a xeroderma pigmentosum group A-dependent mechanism. ( 20388774 )
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
Oxidative damage induced genotoxic effects in human fibroblasts from Xeroderma Pigmentosum group A patients. ( 18585952 )
2008
18
Impaired spermatogenesis and elevated spontaneous tumorigenesis in xeroderma pigmentosum group A gene (Xpa)-deficient mice. ( 18790090 )
2008
19
Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes. ( 18316597 )
2008
20
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
21
RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA). ( 18693251 )
2008
22
Involvement of xeroderma pigmentosum group A (XPA) in progeria arising from defective maturation of prelamin A. ( 17848622 )
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
Thermodynamic properties of damaged DNA and its recognition by xeroderma pigmentosum group A protein and replication protein A. ( 16405861 )
2006
26
Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair. ( 16491090 )
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
DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A. ( 15214909 )
2004
31
Brainstem and basal ganglia lesions in xeroderma pigmentosum group A. ( 15535132 )
2004
32
p53 haploinsufficiency profoundly accelerates the onset of tongue tumors in mice lacking the xeroderma pigmentosum group A gene. ( 14578172 )
2003
33
Xeroderma pigmentosum group a protein and chemotherapy resistance in human germ cell tumors. ( 14563950 )
2003
34
Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions. ( 12897146 )
2003
35
Polymorphisms in the human xeroderma pigmentosum group A gene and their impact on cell survival and nucleotide excision repair. ( 12509227 )
2002
36
Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer. ( 12396616 )
2002
37
Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of primary lung cancer. ( 12376498 )
2002
38
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). ( 11911469 )
2002
39
Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice. ( 11960916 )
2002
40
Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis. ( 11285190 )
2001
41
Carcinogen-induced inflammation and immunosuppression are enhanced in xeroderma pigmentosum group A model mice associated with hyperproduction of prostaglandin E2. ( 11313422 )
2001
42
UV-induced skin carcinogenesis in xeroderma pigmentosum group A (XPA) gene-knockout mice with nucleotide excision repair-deficiency. ( 11376684 )
2001
43
Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. ( 11687625 )
2001
44
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
45
Possible involvement of enhanced prostaglandin E2 production in the photosensitivity in xeroderma pigmentosum group A model mice. ( 10651981 )
2000
46
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
47
Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells. ( 10536158 )
1999
48
Functional studies on the interaction between human replication protein A and Xeroderma pigmentosum group A complementing protein (XPA). ( 10340474 )
1999
49
Repair of oxidative DNA base lesions induced by fluorescent light is defective in xeroderma pigmentosum group A cells. ( 10454612 )
1999
50
Partial functional correction of xeroderma pigmentosum group A cells by suppressor tRNA. ( 10498252 )
1999

Variations for Xeroderma Pigmentosum, Group a

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

71
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 XPA, IVS3AS, G-C single nucleotide variant Pathogenic
2 XPA NM_000380.3(XPA): c.323G> T (p.Cys108Phe) single nucleotide variant Pathogenic rs104894131 GRCh37 Chromosome 9, 100451882: 100451882
3 XPA XPA, 5-BP DEL deletion Pathogenic
4 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 GRCh37 Chromosome 9, 100437861: 100437861
5 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 GRCh37 Chromosome 9, 100447259: 100447259
6 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 GRCh37 Chromosome 9, 100451857: 100451857
7 XPA XPA, IVS1DS, T-G, +2 single nucleotide variant Pathogenic
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 38)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 ATM ATR LMNA RPA1 RPA2 TP53
2
Show member pathways
12.91 ATM ATR ERCC1 ERCC4 RPA1 RPA2
3
Show member pathways
12.84 ATM ATR RPA1 RPA2 TP53
4
Show member pathways
12.75 ATM ATR TP53 XPC
5
Show member pathways
12.67 ERCC1 ERCC4 RPA1 RPA2 XPA XPC
6
Show member pathways
12.53 ATM ATR RPA1 RPA2 TP53
7
Show member pathways
12.45 ATM RPA1 RPA2 TP53
8
Show member pathways
12.36 ATM ATR LMNA RPA1 RPA2
9
Show member pathways
12.27 ATM ATR RPA2 TP53
10
Show member pathways
12.22 ATR RPA1 RPA2
11 12.21 ATM ATR TP53
12
Show member pathways
12.19 ATM ATR TP53
13
Show member pathways
12.19 ATM HMGA1 TP53
14
Show member pathways
12.17 ATM ATR ERCC1 ERCC4 RPA2 TP53
15
Show member pathways
12.1 ATM ATR TP53
16
Show member pathways
12.1 ATM ATR RPA1 RPA2
17
Show member pathways
12.1 ATM ATR ERCC1 ERCC4 RPA1 RPA2
18 12.01 ATM ATR TP53
19
Show member pathways
12 ATM RPA1 RPA2
20 11.97 ATM ATR TP53 XPC
21 11.88 ATM ATR TP53 XPA XPC
22 11.79 ATM ATR ERCC1 ERCC4 LMNA RPA1
23 11.74 RPA1 RPA2 TP53
24 11.74 ATR ERCC1 ERCC4 RPA1 RPA2
25
Show member pathways
11.71 ATM ATR TP53
26
Show member pathways
11.7 ERCC1 ERCC4 RPA1 RPA2 XPA XPC
27 11.6 ATM ERCC1 TP53 XPA
28 11.55 ATM ATR TP53
29 11.43 ATM ATR TP53
30
Show member pathways
11.41 ATM ATR TP53
31 11.4 ATM ATR TP53
32 11.23 ATM ATR TP53
33 11.16 ATM ATR TP53
34
Show member pathways
11.15 ERCC1 ERCC4
35 11.15 ERCC1 ERCC4 XPA
36 11.01 ATM ATR
37
Show member pathways
10.99 ATM TP53
38 10.93 ATM ATR TP53

GO Terms for Xeroderma Pigmentosum, Group a

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ATM ATR ERCC1 ERCC4 HMGA1 LMNA
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 nucleotide-excision repair complex GO:0000109 9.46 ERCC1 ERCC4
6 ERCC4-ERCC1 complex GO:0070522 9.43 ERCC1 ERCC4
7 DNA replication factor A complex GO:0005662 9.43 RPA1 RPA2 XPA
8 nucleotide-excision repair factor 1 complex GO:0000110 9.33 ERCC1 ERCC4 XPA
9 nuclear chromosome, telomeric region GO:0000784 9.1 ATM ATR ERCC1 ERCC4 RPA1 RPA2
10 nucleus GO:0005634 10.11 ATM ATR ERCC1 ERCC4 HMGA1 LMNA

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

(show all 49)
id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.93 ATM ATR RPA1 RPA2
2 regulation of signal transduction by p53 class mediator GO:1901796 9.92 ATM ATR RPA1 RPA2 TP53
3 DNA repair GO:0006281 9.92 ATM ATR ERCC1 ERCC4 RPA1 RPA2
4 double-strand break repair via homologous recombination GO:0000724 9.88 ATM ERCC4 RPA1 RPA2
5 transcription-coupled nucleotide-excision repair GO:0006283 9.88 ERCC1 ERCC4 RPA1 RPA2 XPA
6 regulation of cellular response to heat GO:1900034 9.87 ATM ATR RPA1 RPA2
7 DNA recombination GO:0006310 9.85 ERCC1 RPA1 RPA2
8 interstrand cross-link repair GO:0036297 9.85 ATR ERCC1 ERCC4 RPA1 RPA2
9 multicellular organism growth GO:0035264 9.83 ATM ERCC1 XPA
10 double-strand break repair via nonhomologous end joining GO:0006303 9.83 ATM ERCC1 ERCC4
11 base-excision repair GO:0006284 9.83 HMGA1 RPA1 RPA2 TP53 XPA
12 cellular response to UV GO:0034644 9.82 ATR ERCC4 TP53
13 global genome nucleotide-excision repair GO:0070911 9.81 ERCC1 ERCC4 XPA XPC
14 telomere maintenance GO:0000723 9.8 ERCC4 RPA1 RPA2
15 nucleotide-excision repair, preincision complex assembly GO:0006294 9.8 RPA1 RPA2 XPA XPC
16 nucleotide-excision repair, DNA incision GO:0033683 9.8 ERCC1 ERCC4 RPA1 RPA2 XPA
17 mismatch repair GO:0006298 9.79 RPA1 RPA2 XPC
18 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.77 ERCC1 ERCC4 RPA1 RPA2 XPA
19 cellular response to gamma radiation GO:0071480 9.76 ATM ATR TP53
20 UV protection GO:0009650 9.73 ERCC1 ERCC4 XPA
21 replicative senescence GO:0090399 9.72 ATM ATR TP53
22 DNA damage response, detection of DNA damage GO:0042769 9.71 RPA1 RPA2
23 UV-damage excision repair GO:0070914 9.71 ERCC1 XPA XPC
24 translesion synthesis GO:0019985 9.7 RPA1 RPA2
25 positive regulation of telomere maintenance via telomerase GO:0032212 9.7 ATM ATR
26 protein localization to nucleus GO:0034504 9.7 LMNA XPA
27 nucleotide-excision repair, DNA gap filling GO:0006297 9.7 RPA1 RPA2
28 response to X-ray GO:0010165 9.69 ERCC1 TP53
29 nucleotide-excision repair, DNA damage recognition GO:0000715 9.69 XPA XPC
30 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.69 XPA XPC
31 error-prone translesion synthesis GO:0042276 9.68 RPA1 RPA2
32 error-free translesion synthesis GO:0070987 9.68 RPA1 RPA2
33 determination of adult lifespan GO:0008340 9.68 ATM TP53
34 response to auditory stimulus GO:0010996 9.67 XPA XPC
35 positive regulation of DNA damage response, signal transduction by p53 class mediator GO:0043517 9.67 ATM ATR
36 negative regulation of telomerase activity GO:0051974 9.67 ERCC4 TP53
37 mitotic G1 DNA damage checkpoint GO:0031571 9.66 RPA2 TP53
38 protein localization to chromosome GO:0034502 9.65 RPA1 RPA2
39 negative regulation of telomere maintenance GO:0032205 9.65 ERCC1 ERCC4
40 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.65 ERCC1 ERCC4 RPA1 RPA2 XPA
41 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.64 ERCC1 ERCC4
42 telomeric DNA-containing double minutes formation GO:0061819 9.63 ERCC1 ERCC4
43 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.61 ERCC4 XPA
44 positive regulation of telomerase catalytic core complex assembly GO:1904884 9.61 ATM ATR
45 cellular response to DNA damage stimulus GO:0006974 9.61 ATM ATR ERCC1 ERCC4 RPA1 RPA2
46 establishment of RNA localization to telomere GO:0097694 9.6 ATM ATR
47 establishment of macromolecular complex localization to telomere GO:0097695 9.59 ATM ATR
48 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.55 ERCC1 ERCC4 RPA1 RPA2 XPA
49 nucleotide-excision repair GO:0006289 9.17 ERCC1 ERCC4 RPA1 RPA2 TP53 XPA

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.65 ATM ATR ERCC1 ERCC4 HMGA1 RPA1
2 protein N-terminus binding GO:0047485 9.56 ATM ERCC4 RPA2 TP53
3 single-stranded DNA binding GO:0003697 9.55 ERCC1 ERCC4 RPA1 RPA2 XPC
4 G-rich strand telomeric DNA binding GO:0098505 9.4 RPA1 RPA2
5 TFIID-class transcription factor binding GO:0001094 9.37 ERCC1 ERCC4
6 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.32 ERCC1 ERCC4
7 damaged DNA binding GO:0003684 9.17 ERCC1 ERCC4 RPA1 RPA2 TP53 XPA
8 protein binding GO:0005515 10.17 ATM ATR ERCC1 ERCC4 HMGA1 LMNA

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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