XPA
MCID: XRD029
MIFTS: 51

Xeroderma Pigmentosum, Complementation Group a (XPA)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group a

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group a:

Name: Xeroderma Pigmentosum, Complementation Group a 57 40
Xeroderma Pigmentosum, Group a 57 13 72
Xeroderma Pigmentosum, Type 1 75 29 6
Xp1 57 12 74
Xeroderma Pigmentosum Complementation Group a 12 74
Xeroderma Pigmentosum Group a 12 15
Xeroderma Pigmentosum I 57 74
Xp Group a 12 74
Xpa 57 12
Xeroderma Pigmentosum I; Xp1 57
Xeroderma Pigmentosum 1 12
Xp, Group a 57
Xp-a 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
with at least 4 loci


HPO:

32
xeroderma pigmentosum, complementation group a:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110843
OMIM 57 278700
MeSH 44 D014983
ICD10 33 Q82.1
UMLS 72 C0268135

Summaries for Xeroderma Pigmentosum, Complementation Group a

OMIM : 57 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, Complementation Group a, also known as xeroderma pigmentosum, group a, is related to xeroderma pigmentosum, complementation group g and xeroderma pigmentosum, complementation group b. An important gene associated with Xeroderma Pigmentosum, Complementation Group a is XPA (XPA, DNA Damage Recognition And Repair Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include skin, brain and lung, and related phenotypes are intellectual disability and ataxia

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 : 74 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.

Wikipedia : 75 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group a

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G Xeroderma Pigmentosum, Complementation Group B

Diseases related to Xeroderma Pigmentosum, Complementation Group a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group g 33.1 XPA ERCC1
2 xeroderma pigmentosum, complementation group b 32.6 XPA ERCC1
3 xeroderma pigmentosum, complementation group d 32.3 XPA ERCC1
4 xeroderma pigmentosum, variant type 31.6 XPA RPA2 RPA1 ERCC1
5 trichothiodystrophy 1, photosensitive 31.5 XPA ERCC1
6 xeroderma pigmentosum, complementation group f 30.3 XPA ERCC1
7 cockayne syndrome 30.0 XPA PARP1 ERCC1
8 obsolete: xeroderma pigmentosum complementation group a 12.7
9 xeroderma pigmentosum, complementation group c 12.1
10 multiple self-healing squamous epithelioma 11.6
11 fanconi anemia, complementation group c 11.6
12 xeroderma pigmentosum group e 11.6
13 skin benign neoplasm 11.6
14 laminopathy 11.6
15 xeroderma pigmentosum, complementation group e 11.2
16 mutagen sensitivity 11.2
17 autosomal genetic disease 11.2
18 spasmodic dystonia 11.2
19 conjunctival degeneration 11.2
20 pinguecula 11.2
21 ataxia-telangiectasia 10.4
22 ataxia and polyneuropathy, adult-onset 10.4
23 telangiectasis 10.4
24 lung cancer 10.3
25 adenoma 10.3
26 lung cancer susceptibility 1 10.2
27 skin disease 10.2
28 dystonia 10.2
29 spasmodic dysphonia 10.2
30 dysphagia 10.2
31 esophageal cancer 10.2
32 ovarian cancer 10.2
33 endometrial cancer 10.2
34 autosomal recessive disease 10.2
35 allergic hypersensitivity disease 10.2
36 squamous cell carcinoma 10.2
37 basal cell carcinoma 10.2
38 skin carcinoma 10.2
39 erythrokeratoderma ''en cocardes'' 10.2
40 rare genetic skin disease 10.2
41 bladder cancer 10.1
42 colorectal cancer 10.1
43 hepatic adenomas, familial 10.1
44 hutchinson-gilford progeria syndrome 10.1
45 small cell cancer of the lung 10.1
46 osteogenic sarcoma 10.1
47 nasopharyngeal carcinoma 10.1
48 helix syndrome 10.1
49 lymphoma 10.1
50 adenocarcinoma 10.1

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



Diseases related to Xeroderma Pigmentosum, Complementation Group a

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group a

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group a:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 microcephaly 32 HP:0000252
5 sensorineural hearing impairment 32 HP:0000407
6 photophobia 32 HP:0000613
7 cutaneous photosensitivity 32 HP:0000992
8 melanoma 32 HP:0002861
9 keratitis 32 HP:0000491
10 mental deterioration 32 HP:0001268
11 conjunctivitis 32 HP:0000509
12 hyporeflexia 32 HP:0001265
13 choreoathetosis 32 HP:0001266
14 ectropion 32 HP:0000656
15 telangiectasia 32 HP:0001009
16 poikiloderma 32 HP:0001029
17 entropion 32 HP:0000621
18 dermal atrophy 32 HP:0004334
19 defective dna repair after ultraviolet radiation damage 32 HP:0003079

Symptoms via clinical synopsis from OMIM:

57
Neuro:
ataxia
spasticity
microcephaly
mental deterioration
hyporeflexia
more
Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Misc:
minimal to severe neurologic features

Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Lab:
defective dna repair after ultraviolet radiation damage

Clinical features from OMIM:

278700

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 9.76 PARP1 PSAP RPA1 RPA2 STN1 XPA
2 Decreased cell number GR00303-A 9.76 RPA1 RPA2
3 G0/1 arrest GR00098-A-2 9.26 PARP1 RPA1 RPA2 STN1
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 ERCC1 GPN1 PARP1 RPA1 RPA2 XPA

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group a

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group a

Genetic Tests for Xeroderma Pigmentosum, Complementation Group a

Genetic tests related to Xeroderma Pigmentosum, Complementation Group a:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Type 1 29 XPA

Anatomical Context for Xeroderma Pigmentosum, Complementation Group a

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

41
Skin, Brain, Lung, Colon, Bone, Bone Marrow, Thymus

Publications for Xeroderma Pigmentosum, Complementation Group a

Articles related to Xeroderma Pigmentosum, Complementation Group a:

(show top 50) (show all 177)
# Title Authors PMID Year
1
Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. 8 71
1339397 1992
2
Three nonsense mutations responsible for group A xeroderma pigmentosum. 8 71
1372102 1992
3
Characterization of a splicing mutation in group A xeroderma pigmentosum. 8 71
1702221 1990
4
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. 8 71
2234061 1990
5
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. 71
16098033 2005
6
Xeroderma Pigmentosum 71
20301571 2003
7
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 8
10447254 1999
8
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. 8
9671271 1998
9
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8
8797827 1996
10
Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites. 71
8825598 1995
11
A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients. 71
8541864 1995
12
The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. 8
8053698 1994
13
Sunlight avoidance and cancer prevention in xeroderma pigmentosum. 8
8002661 1994
14
It was a very good year for DNA repair. 8
8287470 1994
15
High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. 71
8105686 1993
16
A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease. 71
1352672 1992
17
A child with xeroderma pigmentosum and bone marrow failure. 8
1571258 1992
18
The genetic basis of xeroderma pigmentosum. 8
1809220 1991
19
Peripheral neuropathy in xeroderma pigmentosum. 8
2168777 1990
20
Do we know the cause of xeroderma pigmentosum? 8
2189596 1990
21
Carrier detection in xeroderma pigmentosum. 8
2295692 1990
22
Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. 8
3287161 1988
23
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 8
3545087 1987
24
Microinjection of partially purified protein factor restores DNA damage specifically in group A of xeroderma pigmentosum cells. 8
3456596 1986
25
Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells. 8
3000003 1985
26
Xeroderma pigmentosum fibroblasts are more sensitive to asbestos fibers than are normal human fibroblasts. 8
6321052 1984
27
Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families. 8
6712155 1984
28
Microinjection of human cell extracts corrects xeroderma pigmentosum defect. 8
6357782 1983
29
Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families. 8
7124732 1982
30
Phenotypic correction of the defect in xeroderma pigmentosum cells after fusion with isolated cytoplasts. 8
7106197 1982
31
Frequency of UV-induced neoplastic transformation of diploid human fibroblasts is higher in xeroderma pigmentosum cells than in normal cells. 8
6953417 1982
32
Ataxia-telangiectasia and xeroderma pigmentosum: no evidence of linkage to HLA. 8
7466773 1980
33
Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum. 8
7390491 1980
34
Cancer in families with xeroderma pigmentosum. 8
286113 1979
35
Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. 8
504548 1979
36
Spontaneous regression of metastatic malignant melanoma in 2 sibs with xeroderma pigmentosum. 8
739525 1978
37
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation. 8
273925 1978
38
Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells. 8
934300 1976
39
Five complementation groups in xeroderma pigmentosum. 8
1243579 1975
40
Xeroderma pigmentosum variants have decreased repair of ultraviolet-damaged DNA. 8
1113871 1975
41
Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. 8
164028 1975
42
Xeroderma pigmentosum: biochemical and genetic characteristics. 8
1108765 1975
43
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 8
4811796 1974
44
A third complementation group in xeroderma pigmentosum. 8
4842087 1974
45
Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations. 8
5086257 1972
46
Survival and DNA repair of somatic cell hybrids after ultraviolet irradiation. 8
4512835 1972
47
Xeroderma pigmentosum: a rapid sensitive method for prenatal diagnosis. 8
5119624 1971
48
Defective repair replication of DNA in xeroderma pigmentosum. 8
5655953 1968
49
[Chromosomal asynchrony in a case of xeroderma pigmentosum]. 8
5301697 1967
50
XERODERMA PIGMENTOSUM--ITS INHERITANCE AND RELATIONSHIP TO THE ABO BLOOD-GROUP SYSTEM. 8
14304640 1965

Variations for Xeroderma Pigmentosum, Complementation Group a

ClinVar genetic disease variations for Xeroderma Pigmentosum, Complementation Group a:

6 (show top 50) (show all 69)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 XPA NM_000380.3(XPA): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic rs769255883 9:100451874-100451874 9:97689592-97689592
2 XPA NM_000380.3(XPA): c.344_348CTTAT[1] (p.Leu117fs) short repeat Pathogenic rs1200172747 9:100451852-100451856 9:97689570-97689574
3 XPA NM_000380.3(XPA): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs104894132 9:100437861-100437861 9:97675579-97675579
4 XPA NM_000380.3(XPA): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs104894133 9:100447259-100447259 9:97684977-97684977
5 XPA NM_000380.3(XPA): c.348T> A (p.Tyr116Ter) single nucleotide variant Pathogenic rs104894134 9:100451857-100451857 9:97689575-97689575
6 XPA XPA, IVS1DS, T-G, +2 single nucleotide variant Pathogenic
7 XPA XPA, IVS3AS, G-C single nucleotide variant Pathogenic
8 XPA NM_000380.3(XPA): c.545_546insTA (p.Leu182fs) insertion Pathogenic rs786205205 9:100449387-100449388 9:97687105-97687106
9 XPA NM_000380.3(XPA): c.390-1G> C single nucleotide variant Pathogenic rs750218942 9:100449544-100449544 9:97687262-97687262
10 XPA NM_000380.3(XPA): c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) indel Pathogenic rs886039226 9:100451867-100451870 9:97689585-97689588
11 XPA NM_000380.3(XPA): c.10del (p.Ala4fs) deletion Pathogenic/Likely pathogenic rs779161471 9:100459564-100459565 9:97697283-97697283
12 XPA NM_000380.3(XPA): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic/Likely pathogenic rs149226993 9:100447247-100447247 9:97684965-97684965
13 XPA NM_000380.3(XPA): c.772_785del (p.Arg258fs) deletion Pathogenic/Likely pathogenic rs778543124 9:100437758-100437771 9:97675476-97675489
14 XPA NM_000380.3(XPA): c.438_443del (p.Gln146_Tyr148delinsHis) deletion Likely pathogenic 9:100449490-100449495 9:97687208-97687213
15 XPA NM_000380.3(XPA): c.-4_26del (p.Met1_Pro9del) deletion Likely pathogenic rs1554703183 9:100459548-100459578 9:97697267-97697296
16 XPA NM_000380.3(XPA): c.391del (p.Asp131fs) deletion Likely pathogenic rs1554701563 9:100449541-100449542 9:97687260-97687260
17 XPA NM_000380.3(XPA): c.389+1G> A single nucleotide variant Likely pathogenic rs1554701931 9:100451815-100451815 9:97689533-97689533
18 XPA NM_000380.3(XPA): c.283+1_283+6del deletion Likely pathogenic rs1554702597 9:100455924-100455930 9:97693643-97693648
19 XPA NM_000380.3(XPA): c.197del (p.Pro66fs) deletion Likely pathogenic rs1554702629 9:100456016-100456017 9:97693735-97693735
20 XPA NM_000380.3(XPA): c.677T> A (p.Leu226Ter) single nucleotide variant Likely pathogenic rs1554699334 9:100437866-100437866 9:97675584-97675584
21 XPA NM_000380.3(XPA): c.472dup (p.Arg158fs) duplication Likely pathogenic rs1554701520 9:100449460-100449460 9:97687179-97687179
22 XPA NM_000380.3(XPA): c.572_573del (p.Leu191fs) deletion Likely pathogenic rs1554701144 9:100447304-100447306 9:97685023-97685024
23 XPA NM_000380.3(XPA): c.555+2T> A single nucleotide variant Likely pathogenic rs1554701478 9:100449376-100449376 9:97687094-97687094
24 XPA NM_000380.3(XPA): c.555+1G> A single nucleotide variant Likely pathogenic rs1554701481 9:100449377-100449377 9:97687095-97687095
25 XPA NM_000380.3(XPA): c.555G> C (p.Gln185His) single nucleotide variant Likely pathogenic rs746617574 9:100449378-100449378 9:97687096-97687096
26 XPA NM_000380.3(XPA): c.548del (p.Lys183fs) deletion Likely pathogenic rs1554701488 9:100449384-100449385 9:97687103-97687103
27 XPA NM_000380.3(XPA): c.532dup (p.Met178fs) duplication Likely pathogenic rs1326841833 9:100449400-100449400 9:97687119-97687119
28 XPA NM_000380.3(XPA): c.472_473AG[2] (p.Glu159fs) short repeat Likely pathogenic rs781195170 9:100449455-100449457 9:97687174-97687175
29 XPA NM_000380.3(XPA): c.457_458TG[1] (p.Cys153_Asp154delinsTer) short repeat Likely pathogenic rs1240801740 9:100449472-100449474 9:97687191-97687192
30 XPA NM_000380.3(XPA): c.673+2T> C single nucleotide variant Likely pathogenic rs1019535182 9:100447203-100447203 9:97684921-97684921
31 XPA NM_000380.3(XPA): c.646C> T (p.Gln216Ter) single nucleotide variant Likely pathogenic rs761978351 9:100447232-100447232 9:97684950-97684950
32 XPA NM_000380.3(XPA): c.732dup (p.Glu245Ter) duplication Likely pathogenic rs1554699296 9:100437810-100437810 9:97675529-97675529
33 XPA NM_000380.3(XPA): c.338_339del (p.Met113fs) deletion Likely pathogenic rs748286715 9:100451865-100451867 9:97689584-97689585
34 XPA NM_000380.3(XPA): c.648_649del (p.Lys217fs) deletion Likely pathogenic rs1057519018 9:100447229-100447230 9:97684947-97684948
35 XPA NM_000380.3(XPA): c.666dup (p.Val223fs) duplication Likely pathogenic rs1554701103 9:100447211-100447211 9:97684930-97684930
36 XPA NM_000380.3(XPA): c.642_645dup (p.Gln216fs) duplication Likely pathogenic rs764582394 9:100447232-100447232 9:97684951-97684954
37 XPA NM_000380.3(XPA): c.631dup (p.Arg211fs) duplication Likely pathogenic rs1554701129 9:100447246-100447246 9:97684965-97684965
38 XPA NM_000380.3(XPA): c.599T> G (p.Leu200Ter) single nucleotide variant Likely pathogenic rs755803064 9:100447279-100447279 9:97684997-97684997
39 XPA NM_000380.3(XPA): c.563del (p.Lys188fs) deletion Likely pathogenic rs1554701152 9:100447314-100447315 9:97685033-97685033
40 XPA NM_000380.3(XPA): c.426_427AG[1] (p.Glu143fs) short repeat Likely pathogenic rs1554701540 9:100449503-100449505 9:97687222-97687223
41 XPA NM_000380.3(XPA): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1253496792 9:100459573-100459573 9:97697291-97697291
42 XPA NM_000380.3(XPA): c.774dup (p.Lys259Ter) duplication Likely pathogenic rs752573039 9:100437768-100437768 9:97675487-97675487
43 XPA NM_000380.3(XPA): c.601_602del (p.Glu201fs) deletion Likely pathogenic rs1554701139 9:100447275-100447277 9:97684994-97684995
44 XPA NM_000380.3(XPA): c.451A> T (p.Lys151Ter) single nucleotide variant Likely pathogenic rs1554701532 9:100449482-100449482 9:97687200-97687200
45 XPA NM_000380.3(XPA): c.172+1G> T single nucleotide variant Likely pathogenic rs1554703119 9:100459402-100459402 9:97697120-97697120
46 XPA NM_000380.3(XPA): c.235G> T (p.Glu79Ter) single nucleotide variant Likely pathogenic rs1554702608 9:100455979-100455979 9:97693697-97693697
47 XPA NM_000380.3(XPA): c.172+1G> A single nucleotide variant Likely pathogenic rs1554703119 9:100459402-100459402 9:97697120-97697120
48 XPC NM_004628.4(XPC): c.2034-1G> A single nucleotide variant Likely pathogenic rs869025275 3:14193917-14193917 3:14152417-14152417
49 XPA NM_000380.3(XPA): c.323G> A (p.Cys108Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894131 9:100451882-100451882 9:97689600-97689600
50 XPA NM_000380.3(XPA): c.817dup (p.Met273fs) duplication Uncertain significance rs754458042 9:100437725-100437725 9:97675444-97675444

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

74
# 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

Expression for Xeroderma Pigmentosum, Complementation Group a

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

Pathways for Xeroderma Pigmentosum, Complementation Group a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 XPA RPA2 RPA1 PARP1 ERCC1
2
Show member pathways
12.23 XPA RPA2 PARP1 ERCC1
3
Show member pathways
12.09 XPA RPA2 RPA1 PARP1 ERCC1
4
Show member pathways
11.93 RPA2 RPA1 ERCC1
5 11.93 XPA RPA2 RPA1 ERCC1
6
Show member pathways
11.81 RPA2 RPA1 HSPA1A
7 11.4 RPA2 RPA1 ERCC1
8
Show member pathways
11.09 XPA RPA2 RPA1 PARP1 ERCC1
9 10.9 XPA ERCC1

GO Terms for Xeroderma Pigmentosum, Complementation Group a

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.81 XPA STN1 RPA2 RPA1 PARP1 NCBP1
2 site of DNA damage GO:0090734 9.37 RPA1 PARP1
3 nucleotide-excision repair factor 1 complex GO:0000110 9.26 XPA ERCC1
4 DNA replication factor A complex GO:0005662 9.13 XPA RPA2 RPA1
5 nuclear chromosome, telomeric region GO:0000784 9.02 STN1 RPA2 RPA1 PARP1 ERCC1
6 nucleus GO:0005634 10.02 XPA STN1 RPA2 RPA1 PARP1 NCBP1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.92 XPA RPA2 RPA1 PARP1 ERCC1
2 DNA repair GO:0006281 9.88 XPA RPA2 RPA1 PARP1 ERCC1 ENDOV
3 DNA recombination GO:0006310 9.77 RPA2 RPA1 ERCC1
4 double-strand break repair via homologous recombination GO:0000724 9.73 RPA2 RPA1 PARP1
5 transcription-coupled nucleotide-excision repair GO:0006283 9.73 XPA RPA2 RPA1 ERCC1
6 interstrand cross-link repair GO:0036297 9.71 RPA2 RPA1 ERCC1
7 regulation of cellular response to heat GO:1900034 9.69 RPA2 RPA1 HSPA1A
8 base-excision repair GO:0006284 9.67 XPA RPA2 RPA1
9 telomere maintenance GO:0000723 9.67 STN1 RPA2 RPA1 PARP1
10 DNA damage response, detection of DNA damage GO:0042769 9.65 RPA2 RPA1 PARP1
11 translesion synthesis GO:0019985 9.64 RPA2 RPA1
12 mismatch repair GO:0006298 9.64 RPA2 RPA1
13 nucleotide-excision repair, DNA gap filling GO:0006297 9.63 RPA2 RPA1
14 global genome nucleotide-excision repair GO:0070911 9.63 XPA PARP1 ERCC1
15 nucleotide-excision repair, DNA damage recognition GO:0000715 9.62 XPA PARP1
16 telomere maintenance via semi-conservative replication GO:0032201 9.62 RPA2 RPA1
17 nucleotide-excision repair GO:0006289 9.62 XPA RPA2 RPA1 ERCC1
18 error-prone translesion synthesis GO:0042276 9.61 RPA2 RPA1
19 error-free translesion synthesis GO:0070987 9.61 RPA2 RPA1
20 UV protection GO:0009650 9.6 XPA ERCC1
21 UV-damage excision repair GO:0070914 9.58 XPA ERCC1
22 nucleotide-excision repair, preincision complex assembly GO:0006294 9.56 XPA RPA2 RPA1 PARP1
23 protein localization to chromosome GO:0034502 9.55 RPA2 RPA1
24 nucleotide-excision repair, DNA incision GO:0033683 9.55 XPA RPA2 RPA1 PARP1 ERCC1
25 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.35 XPA RPA2 RPA1 PARP1 ERCC1
26 telomere maintenance via telomerase GO:0007004 9.33 RPA1
27 DNA unwinding involved in DNA replication GO:0006268 9.27 RPA1
28 mitotic recombination GO:0006312 9.27 ERCC1
29 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.02 XPA RPA2 RPA1 PARP1 ERCC1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.87 XPA STN1 RPA2 RPA1 PARP1 ERCC1
2 protein N-terminus binding GO:0047485 9.54 RPA2 PARP1 HSPA1A
3 G-rich strand telomeric DNA binding GO:0098505 9.26 RPA2 RPA1
4 single-stranded DNA binding GO:0003697 9.26 STN1 RPA2 RPA1 ERCC1
5 single-stranded telomeric DNA binding GO:0043047 9.16 STN1 RPA1
6 damaged DNA binding GO:0003684 8.92 XPA RPA2 RPA1 ERCC1

Sources for Xeroderma Pigmentosum, Complementation Group a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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