XPV
MCID: XRD010
MIFTS: 72

Xeroderma Pigmentosum, Variant Type (XPV)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

MalaCards integrated aliases for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 57 76 53 29 13 6 40
Xeroderma Pigmentosum 12 76 24 53 25 37 29 13 55 6 44 15
Xpv 57 12 53 59 75
Xeroderma Pigmentosum with Normal Dna Repair Rates 57 12 53 75
Photosensitivity with Defective Dna Synthesis 57 12 53
Xeroderma Pigmentosum Variant Type 12 75 15
Xp 53 25
De Sanctis-Cacchione Syndrome 73
Xeroderma Pigmentosum Variant 59
Desanctis-Cacchione Syndrome 25
Xeroderma Pigmentosa 53

Characteristics:

Orphanet epidemiological data:

59
xeroderma pigmentosum variant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
xeroderma pigmentosum, variant type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Variant Type

NIH Rare Diseases : 53 Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop by the time a child is 2 years old. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least nine genes have been identified. The condition is inherited in an autosomal recessive manner. People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices.

MalaCards based summary : Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, complementation group c and xeroderma pigmentosum, complementation group b. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are Nucleotide excision repair and DNA Double-Strand Break Repair. The drugs Abstral and Adcetris have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are photophobia and dry skin

Disease Ontology : 12 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

Genetics Home Reference : 25 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

OMIM : 57 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700). Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehman et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999). So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980). (278750)

UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum variant type: 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. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

GeneReviews: NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group c 34.8 CETN2 DDB2 ERCC3 RAD23B XPA XPC
2 xeroderma pigmentosum, complementation group b 34.8 ERCC1 ERCC2 ERCC3 ERCC5 RAD23B XPA
3 xeroderma pigmentosum, complementation group f 34.7 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
4 xeroderma pigmentosum, complementation group d 34.7 ERCC1 ERCC2 ERCC3 OGG1 RAD23B XPA
5 xeroderma pigmentosum, complementation group g 34.7 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
6 xeroderma pigmentosum group e 34.5 DDB1 DDB2 POLH RAD23B XPA XPC
7 xeroderma pigmentosum, complementation group e 34.5 CUL4A DDB1 DDB2 ERCC5 XPA XPC
8 cockayne syndrome a 33.2 ERCC2 ERCC4 ERCC5
9 trichothiodystrophy 1, photosensitive 32.8 ERCC1 ERCC2 ERCC3 ERCC5 XPA
10 cerebrooculofacioskeletal syndrome 1 32.4 ERCC2 ERCC5
11 xeroderma pigmentosum, complementation group a 32.1 ERCC1 POLH XPA
12 cockayne syndrome 31.5 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
13 basal cell carcinoma 31.1 ERCC1 ERCC2 TP53 XPA XRCC1 XRCC3
14 fanconi anemia, complementation group a 31.0 ERCC1 ERCC2 ERCC4 HPRT1
15 uv-sensitive syndrome 30.5 ERCC2 ERCC3 ERCC5
16 lung cancer susceptibility 3 30.5 ERCC1 OGG1 TP53 XRCC1
17 chromosome xp deletion 12.3
18 xeroderma pigmentosum, type 9 12.3
19 xeroderma pigmentosum, autosomal dominant, mild 12.3
20 xeroderma pigmentosum, type 2 12.3
21 de sanctis-cacchione syndrome 11.8
22 basal cell carcinoma 1 11.7
23 cerebrooculofacioskeletal syndrome 3 11.5
24 cockayne syndrome b 11.4
25 cerebrooculofacioskeletal syndrome 2 11.3
26 cerebrooculofacioskeletal syndrome 4 11.3
27 partial duplication of the short arm of chromosome x 11.1
28 melanoma 10.8
29 squamous cell carcinoma 10.7
30 lung cancer 10.6
31 gastric cancer 10.4
32 prostate cancer 10.4
33 dyschromatosis symmetrica hereditaria 10.4
34 ovarian cancer 10.4
35 ataxia-telangiectasia 10.4
36 dyschromatosis universalis hereditaria 3 10.4
37 keratoacanthoma 10.4
38 herpes simplex 10.4
39 actinic cheilitis 10.3 ERCC1 TP53
40 breast cancer 10.3
41 esophageal cancer 10.3
42 adenocarcinoma 10.3
43 skin melanoma 10.3
44 glioma 10.3
45 diffuse gastric cancer 10.3 ERCC1 ERCC2 XRCC3
46 lung papillary adenocarcinoma 10.3 ERCC1 TP53
47 xfe progeroid syndrome 10.3 ERCC1 ERCC4
48 autosomal recessive disease 10.2 ERCC2 ERCC3 HPRT1 XPA
49 differentiated thyroid carcinoma 10.2 TP53 XRCC1 XRCC3
50 non-proliferative fibrocystic change of the breast 10.2 TP53 XRCC1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to Xeroderma Pigmentosum, Variant Type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

Symptoms via clinical synopsis from OMIM:

57
Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Misc:
no growth retardation, microcephaly, congenital malformations or other abnormalities

Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Lab:
normal dna repair after ultraviolet radiation
defect in recovery of post-uv dna synthesis
damage


Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
2 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
3 melanoma 59 32 frequent (33%) Frequent (79-30%) HP:0002861
4 keratitis 59 32 frequent (33%) Frequent (79-30%) HP:0000491
5 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
6 squamous cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002860
7 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
8 telangiectasia 59 32 frequent (33%) Frequent (79-30%) HP:0001009
9 poikiloderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001029
10 dermal atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0004334
11 basal cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002671
12 freckles in sun-exposed areas 59 32 hallmark (90%) Very frequent (99-80%) HP:0007603
13 seizures 32 occasional (7.5%) HP:0001250
14 ataxia 32 occasional (7.5%) HP:0001251
15 spasticity 32 occasional (7.5%) HP:0001257
16 failure to thrive 32 hallmark (90%) HP:0001508
17 eeg abnormality 32 hallmark (90%) HP:0002353
18 developmental regression 32 hallmark (90%) HP:0002376
19 cataract 32 frequent (33%) HP:0000518
20 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
21 craniofacial hyperostosis 32 occasional (7.5%) HP:0004493
22 abnormality of the dentition 32 hallmark (90%) HP:0000164
23 microcephaly 32 occasional (7.5%) HP:0000252
24 sensorineural hearing impairment 32 frequent (33%) HP:0000407
25 optic atrophy 32 hallmark (90%) HP:0000648
26 short stature 32 occasional (7.5%) HP:0004322
27 cognitive impairment 32 hallmark (90%) HP:0100543
28 fever 32 hallmark (90%) HP:0001945
29 aminoaciduria 32 occasional (7.5%) HP:0003355
30 fatigue 32 hallmark (90%) HP:0012378
31 arthralgia 32 hallmark (90%) HP:0002829
32 hyperkeratosis 32 frequent (33%) HP:0000962
33 peripheral neuropathy 32 occasional (7.5%) HP:0009830
34 opacification of the corneal stroma 32 occasional (7.5%) HP:0007759
35 strabismus 32 frequent (33%) HP:0000486
36 thin skin 32 hallmark (90%) HP:0000963
37 cryptorchidism 32 frequent (33%) HP:0000028
38 melanocytic nevus 32 occasional (7.5%) HP:0000995
39 alopecia 32 occasional (7.5%) HP:0001596
40 reduced tendon reflexes 32 occasional (7.5%) HP:0001315
41 hypopigmented skin patches 32 frequent (33%) HP:0001053
42 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
43 hypogonadism 32 hallmark (90%) HP:0000135
44 intellectual disability, progressive 32 hallmark (90%) HP:0006887
45 blepharitis 32 occasional (7.5%) HP:0000498
46 decreased testicular size 32 occasional (7.5%) HP:0008734
47 conjunctival telangiectasia 32 hallmark (90%) HP:0000524
48 telangiectasia of the skin 32 hallmark (90%) HP:0100585
49 erythema 32 frequent (33%) HP:0010783
50 conjunctivitis 32 HP:0000509

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.39 RPA2
2 Decreased viability GR00221-A-1 10.39 RPA2
3 Decreased viability GR00221-A-2 10.39 RPA2
4 Decreased viability GR00221-A-3 10.39 RPA2
5 Decreased viability GR00240-S-1 10.39 TP53
6 Decreased viability GR00381-A-1 10.39 DDB1 ERCC1
7 Decreased viability GR00402-S-2 10.39 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.11 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
9 no effect GR00402-S-1 9.96 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 CUL4A DDB2 ERCC1 ERCC4 ERCC5 TP53
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 CUL4A DDB2 ERCC1 ERCC4 ERCC5 TP53

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2 growth/size/body region MP:0005378 10.35 CETN2 CUL4A DDB2 ERCC1 ERCC2 ERCC3
3 homeostasis/metabolism MP:0005376 10.25 CUL4A ERCC1 ERCC2 ERCC3 ERCC5 HPRT1
4 behavior/neurological MP:0005386 10.22 ERCC1 ERCC2 ERCC3 HPRT1 OGG1 RAD23B
5 hematopoietic system MP:0005397 10.2 CUL4A ERCC1 ERCC2 ERCC5 HPRT1 OGG1
6 mortality/aging MP:0010768 10.19 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
7 immune system MP:0005387 10.18 CUL4A ERCC1 ERCC2 ERCC5 HPRT1 OGG1
8 integument MP:0010771 10.11 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 HPRT1
9 craniofacial MP:0005382 10.04 CETN2 ERCC3 HPRT1 POLH RAD23B TP53
10 neoplasm MP:0002006 9.97 CUL4A DDB2 ERCC1 ERCC2 ERCC3 HPRT1
11 liver/biliary system MP:0005370 9.92 CUL4A ERCC1 ERCC4 ERCC5 HPRT1 OGG1
12 pigmentation MP:0001186 9.35 ERCC2 HPRT1 POLH TP53 XPA
13 vision/eye MP:0005391 9.28 CETN2 DDB1 ERCC2 ERCC3 HPRT1 RAD23B

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

FDA approved drugs:

(show top 50) (show all 101)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
2
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
3
Afinitor 18 49 EVEROLIMUS Novartis March 2009
4
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
5
Aromasin Tablets 18 49 EXEMESTANE Pharmacia & Upjohn October 21. 1999
6
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
7
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
8
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
9
Bosulif 18 49 BOSUTINIB MONOHYDRATE Pfizer September 2012
10
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
11
Campostar 18 49 IRINOTECAN HYDROCHLORIDE Pharmacia & Upjohn June 1996
12
CEA-Scan 18 Immunomedics April 1996
13
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
14
Cyramza 18 49 RAMUCIRUMAB Eli Lilly April 2014
15
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
16
Elitek 18 49 RASBURICASE sanofi-aventis October 2009
17
Ellence 18 49 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn September 1999
18
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
19
Ethyol 18 AMIFOSTINE Alza December 8, 1995
20
Faslodex 18 49 FULVESTRANT AstraZeneca April 2002
21
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
22
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
23
Gliadel Wafer 18 49 CARMUSTINE Rhone-Poulenc Rorer, Guilford Pharmaceuticals February 1997
24
Halaven 18 49 ERIBULIN MESYLATE Eisai November 2010
25
Herceptin 18 49 TRASTUZUMAB Genentech October 1998
26
Hycamtin 18 49 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/May 1996
27
Ibrance 18 49 PALBOCICLIB Pfizer February 2015
28
Iclusig 18 49 PONATINIB HYDROCHLORIDE Ariad Pharmaceuticals December 2012
29
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
30
Iressa 18 49 GEFITINIB AstraZeneca May 2003
31
Istodax 18 49 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
32
Jevtana 18 49 CABAZITAXEL sanofi aventis June 2010
33
Leukine 18 SARGRAMOSTIM Immunex on November 24, 1995/ November 1996
34
Lynparza 18 49 OLAPARIB AstraZeneca December 2014
35
Mozobil 18 49 PLERIXAFOR Genzyme December 2008
36
Mylotarg 18 49 GEMTUZUMAB OZOGAMICIN Wyeth May 2000
37
Neumega 18 OPRELVEKIN Genetics Institute November 1997
38
Neupogen 18 49 FILGRASTIM Amgen Approval April 1998
39
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
40
Nolvadex 18 49 TAMOXIFEN CITRATE AstraZeneca October 1998
41
Onsolis 18 FENTANYL CITRATE BioDelivery Sciences July 2009
42
Perjeta 18 49 PERTUZUMAB Genentech June 2012
43
Proleukin 18 49 ALDESLEUKIN Chiron January 1998
44
Provenge 18 49 sipuleucel-T Dendreon May 2010
45
Quadramet 18 SAMARIUM SM-153 LEXIDRONAM PENTASODIUM DuPont Merck Pharmaceutical Company March 1997
46
Sancuso 18 GRANISETRON ProStrakan September 2008
47
Sensipar 18 CINACALCET HYDROCHLORIDE Amgen March 2004
48
Sprycel 18 49 DASATINIB Bristol-Myers Squibb June 2006
49
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
50
Tarceva 18 49 ERLOTINIB HYDROCHLORIDE Genentech, OSI Pharmaceuticals November, 2004

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type 29 POLH
2 Xeroderma Pigmentosum 29 ERCC1

Anatomical Context for Xeroderma Pigmentosum, Variant Type

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

41
Skin, Eye, Brain, Lung, Prostate, Tongue, Spinal Cord

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

(show top 50) (show all 1069)
# Title Authors Year
1
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
2
17-(Allylamino)-17-Demethoxygeldanamycin Enhances Etoposide-Induced Cytotoxicity via the Downregulation of Xeroderma Pigmentosum Complementation Group C Expression in Human Lung Squamous Cell Carcinoma Cells. ( 29953987 )
2018
3
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
4
Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type. ( 29682812 )
2018
5
Xeroderma Pigmentosum - Cockayne Syndrome Complex (XP-CS) - Another case. ( 30317357 )
2018
6
Rapidly Growing Conjunctival Squamous Cell Carcinoma Following Corneal Transplantation in a Patient with Xeroderma Pigmentosum. ( 30399126 )
2018
7
Meta-analysis on the association between xeroderma pigmentosum Group A A23G polymorphism and esophageal cancer in a Chinese population. ( 30539866 )
2018
8
Correlation of xeroderma pigmentosum complementation group F expression with gastric cancer and prognosis. ( 30546430 )
2018
9
Astaxanthin enhances erlotinib-induced cytotoxicity by p38 MAPK mediated xeroderma pigmentosum complementation group C (XPC) down-regulation in human lung cancer cells. ( 30555679 )
2018
10
Interaction of polymorphisms in xeroderma pigmentosum group C with cigarette smoking and pancreatic cancer risk. ( 30344718 )
2018
11
Novel compound heterozygous variants in the XPC gene identified in a Chinese xeroderma pigmentosum group C patient with ovarian teratoma. ( 29696685 )
2018
12
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome. ( 29376097 )
2018
13
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. ( 29325523 )
2018
14
Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development. ( 29111769 )
2018
15
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis. ( 29169765 )
2018
16
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal. ( 29178624 )
2018
17
Contribution of DNA repair xeroderma pigmentosum group D genotypes to pancreatic cancer risk in the Chinese Han population. ( 29260835 )
2018
18
Challenges and proposed solutions for formative research to inform systematic intervention development in rare and unstudied conditions: The case example of Xeroderma Pigmentosum. ( 29265545 )
2018
19
Efficacy of anti-programmed cell death-1 immunotherapy for skin carcinomas and melanoma metastases in a patient with xeroderma pigmentosum. ( 29274233 )
2018
20
Erratum: A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation. ( 29284765 )
2018
21
A case of xeroderma pigmentosum complementation group C with diverse clinical features. ( 29330851 )
2018
22
Japanese case of xeroderma pigmentosum complementation group C with a novel mutation. ( 29356054 )
2018
23
Role of Xeroderma Pigmentosum Group D in Cell Cycle and Apoptosis in Cutaneous Squamous Cell Carcinoma A431 Cells. ( 29362353 )
2018
24
Xeroderma Pigmentosum - Facts and Perspectives. ( 29374753 )
2018
25
Reversed actinic damage in two children with xeroderma pigmentosum treated with topical imiquimod. ( 29377344 )
2018
26
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect. ( 29569758 )
2018
27
Overexpression of xeroderma pigmentosum group C decreases the chemotherapeutic sensitivity of colorectal carcinoma cells to cisplatin. ( 29616110 )
2018
28
Phosphorylation of xeroderma pigmentosum group C regulates ultraviolet-induced DNA damage repair. ( 29660033 )
2018
29
Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers. ( 29785825 )
2018
30
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. ( 29892709 )
2018
31
Modulation of risk of squamous cell carcinoma head and neck in North Indian population with polymorphisms in xeroderma pigmentosum complementation Group C gene. ( 29893334 )
2018
32
Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A. ( 30017720 )
2018
33
Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation. ( 30077970 )
2018
34
Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A. ( 30089811 )
2018
35
Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene. ( 30101995 )
2018
36
Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype. ( 30117619 )
2018
37
Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age. ( 30127633 )
2018
38
Xeroderma Pigmentosum Group D (XPD) Inhibits the Proliferation Cycle of Vascular Smooth Muscle Cell (VSMC) by Activating Glycogen Synthase Kinase 3β (GSK3β). ( 30146633 )
2018
39
Use of vismodegib for the treatment of multiple basal cell carcinomas in a patient with xeroderma pigmentosum. ( 30178564 )
2018
40
Investigation of the probable homo-dimer model of the Xeroderma pigmentosum complementation group A (XPA) protein to represent the DNA binding core. ( 30205752 )
2018
41
Understanding and predicting a complex behavior using n-of-1 methods: Photoprotection in xeroderma pigmentosum. ( 30221970 )
2018
42
Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease. ( 30251654 )
2018
43
Novel therapeutic approaches to xeroderma pigmentosum. ( 30265743 )
2018
44
Ocular and periocular tumors in xeroderma pigmentosum: A study of 120 Asian Indian patients. ( 30336128 )
2018
45
Differential corneal involvement in xeroderma pigmentosum. ( 30355881 )
2018
46
ATR/Chk1 Pathway is Activated by Oxidative Stress in Response to UVA Light in Human Xeroderma Pigmentosum Variant Cells. ( 30362123 )
2018
47
Silencing of Xeroderma Pigmentosum Group D Gene Promotes Hepatoma Cell Growth by Reducing P53 Expression. ( 30409962 )
2018
48
Xeroderma Pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms. ( 30499105 )
2018
49
Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman. ( 30511002 )
2018
50
Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study. ( 30524489 )
2018

Variations for Xeroderma Pigmentosum, Variant Type

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

75
# Symbol AA change Variation ID SNP ID
1 POLH p.Arg111His VAR_021227 rs758423288
2 POLH p.Thr122Pro VAR_021228
3 POLH p.Gly263Val VAR_021230
4 POLH p.Arg361Ser VAR_021232
5 POLH p.Lys535Glu VAR_021234 rs56307355
6 POLH p.Lys589Thr VAR_021236 rs121908565
7 POLH p.Arg93Pro VAR_070836 rs756931657
8 POLH p.Val266Asp VAR_070837
9 POLH p.Gly295Arg VAR_070838
10 POLH p.Thr692Ala VAR_070839 rs199562456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6 (show top 50) (show all 997)
# Gene Variation Type Significance SNP ID Assembly Location
1 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh37 Chromosome 3, 14208723: 14208724
2 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh38 Chromosome 3, 14167223: 14167224
3 POLH POLH, 13-BP DEL, NT343 deletion Pathogenic
4 POLH POLH, 4-BP DEL, NT289 deletion Pathogenic
5 POLH POLH, 2-BP DEL, NT770 deletion Pathogenic
6 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh37 Chromosome 6, 43572383: 43572383
7 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh38 Chromosome 6, 43604646: 43604646
8 POLH POLH, DEL AND TRP297TER deletion Pathogenic
9 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh37 Chromosome 6, 43555112: 43555112
10 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh38 Chromosome 6, 43587375: 43587375
11 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh37 Chromosome 6, 43578333: 43578333
12 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh38 Chromosome 6, 43610596: 43610596
13 POLH POLH, 104-BP DEL, NT661 deletion Pathogenic
14 POLH NM_006502.2: c.207delG deletion Pathogenic
15 POLH NM_006502.2: c.225_227delTCT deletion Pathogenic
16 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Likely pathogenic rs56307355 GRCh37 Chromosome 6, 43581755: 43581755
17 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Likely pathogenic rs56307355 GRCh38 Chromosome 6, 43614018: 43614018
18 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh37 Chromosome 6, 43581918: 43581918
19 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh38 Chromosome 6, 43614181: 43614181
20 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh37 Chromosome 13, 103524747: 103524747
21 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh38 Chromosome 13, 102872397: 102872397
22 ERCC5 NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr) single nucleotide variant Uncertain significance rs121434576 GRCh37 Chromosome 13, 103520549: 103520549
23 ERCC5 NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr) single nucleotide variant Uncertain significance rs121434576 GRCh38 Chromosome 13, 102868199: 102868199
24 ERCC4 NM_005236.2(ERCC4): c.2505T> C (p.Ser835=) single nucleotide variant Benign rs1799801 GRCh37 Chromosome 16, 14041958: 14041958
25 ERCC4 NM_005236.2(ERCC4): c.2505T> C (p.Ser835=) single nucleotide variant Benign rs1799801 GRCh38 Chromosome 16, 13948101: 13948101
26 ERCC5 NM_000123.3(ERCC5): c.138T> C (p.His46=) single nucleotide variant Benign rs1047768 GRCh37 Chromosome 13, 103504517: 103504517
27 ERCC5 NM_000123.3(ERCC5): c.138T> C (p.His46=) single nucleotide variant Benign rs1047768 GRCh38 Chromosome 13, 102852167: 102852167
28 ERCC5 NM_000123.3(ERCC5): c.1586G> C (p.Cys529Ser) single nucleotide variant Benign/Likely benign rs2227869 GRCh37 Chromosome 13, 103515085: 103515085
29 ERCC5 NM_000123.3(ERCC5): c.1586G> C (p.Cys529Ser) single nucleotide variant Benign/Likely benign rs2227869 GRCh38 Chromosome 13, 102862735: 102862735
30 ERCC5 NM_000123.3(ERCC5): c.3310G> C (p.Asp1104His) single nucleotide variant Benign rs17655 GRCh37 Chromosome 13, 103528002: 103528002
31 ERCC5 NM_000123.3(ERCC5): c.3310G> C (p.Asp1104His) single nucleotide variant Benign rs17655 GRCh38 Chromosome 13, 102875652: 102875652
32 ERCC5 NM_000123.3(ERCC5): c.760A> G (p.Met254Val) single nucleotide variant Benign/Likely benign rs1047769 GRCh37 Chromosome 13, 103513944: 103513944
33 ERCC5 NM_000123.3(ERCC5): c.760A> G (p.Met254Val) single nucleotide variant Benign/Likely benign rs1047769 GRCh38 Chromosome 13, 102861594: 102861594
34 ERCC2 NM_000400.3(ERCC2): c.2251A> C (p.Lys751Gln) single nucleotide variant Benign rs13181 GRCh37 Chromosome 19, 45854919: 45854919
35 ERCC2 NM_000400.3(ERCC2): c.2251A> C (p.Lys751Gln) single nucleotide variant Benign rs13181 GRCh38 Chromosome 19, 45351661: 45351661
36 ERCC2 NM_000400.3(ERCC2): c.545C> T (p.Ala182Val) single nucleotide variant Uncertain significance rs142936491 GRCh37 Chromosome 19, 45868145: 45868145
37 ERCC2 NM_000400.3(ERCC2): c.545C> T (p.Ala182Val) single nucleotide variant Uncertain significance rs142936491 GRCh38 Chromosome 19, 45364887: 45364887
38 ERCC2 NM_000400.3(ERCC2): c.934G> A (p.Asp312Asn) single nucleotide variant Benign rs1799793 GRCh37 Chromosome 19, 45867259: 45867259
39 ERCC2 NM_000400.3(ERCC2): c.934G> A (p.Asp312Asn) single nucleotide variant Benign rs1799793 GRCh38 Chromosome 19, 45364001: 45364001
40 ERCC4 NM_005236.2(ERCC4): c.79C> T (p.Leu27Phe) single nucleotide variant Uncertain significance rs587778282 GRCh37 Chromosome 16, 14014101: 14014101
41 ERCC4 NM_005236.2(ERCC4): c.79C> T (p.Leu27Phe) single nucleotide variant Uncertain significance rs587778282 GRCh38 Chromosome 16, 13920244: 13920244
42 ERCC4 NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro) single nucleotide variant Benign/Likely benign rs2020955 GRCh37 Chromosome 16, 14038659: 14038659
43 ERCC4 NM_005236.2(ERCC4): c.1984T> C (p.Ser662Pro) single nucleotide variant Benign/Likely benign rs2020955 GRCh38 Chromosome 16, 13944802: 13944802
44 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 GRCh37 Chromosome 16, 14029352: 14029352
45 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 GRCh38 Chromosome 16, 13935495: 13935495
46 ERCC4 NM_005236.2(ERCC4): c.1244G> A (p.Arg415Gln) single nucleotide variant Benign/Likely benign rs1800067 GRCh37 Chromosome 16, 14029033: 14029033
47 ERCC4 NM_005236.2(ERCC4): c.1244G> A (p.Arg415Gln) single nucleotide variant Benign/Likely benign rs1800067 GRCh38 Chromosome 16, 13935176: 13935176
48 ERCC5 NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr) single nucleotide variant Uncertain significance rs142438319 GRCh37 Chromosome 13, 103518693: 103518693
49 ERCC5 NM_000123.3(ERCC5): c.2281G> A (p.Ala761Thr) single nucleotide variant Uncertain significance rs142438319 GRCh38 Chromosome 13, 102866343: 102866343
50 ERCC5 NM_000123.3(ERCC5): c.2890C> T (p.Arg964Trp) single nucleotide variant Uncertain significance rs574826021 GRCh37 Chromosome 13, 103525619: 103525619

Expression for Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for Xeroderma Pigmentosum, Variant Type

Pathways related to Xeroderma Pigmentosum, Variant Type according to KEGG:

37
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2
Show member pathways
12.84 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3
Show member pathways
12.75 DDB2 ERCC2 ERCC3 RPA2 TP53
4
Show member pathways
12.67 CUL4A DDB1 OGG1 RPA2 XRCC1
5
Show member pathways
12.58 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 OGG1
6 12.24 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7
Show member pathways
12.21 ERCC1 ERCC4 POLH RPA2 XRCC3
8
Show member pathways
12.18 CUL4A DDB1 POLH POLI RPA2
9 11.94 ERCC2 ERCC3 TP53 XPA XPC
10 11.78 ERCC1 ERCC4 POLH POLI RPA2
11 11.64 ERCC1 POLH TP53 XPA
12 11.56 ERCC2 ERCC3 TP53 XPA XPC
13
Show member pathways
11.5 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
14 11.31 ERCC1 ERCC2 ERCC3 ERCC4 POLH XPA

GO Terms for Xeroderma Pigmentosum, Variant Type

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.73 DDB1 ERCC1 ERCC4 RPA2 XRCC1 XRCC3
2 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.65 CUL4A DDB1 DDB2
3 DNA replication factor A complex GO:0005662 9.63 ERCC5 RPA2 XPA
4 ERCC4-ERCC1 complex GO:0070522 9.61 ERCC1 ERCC4 XRCC1
5 nucleoplasm GO:0005654 9.6 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
6 transcription factor TFIID complex GO:0005669 9.55 ERCC1 ERCC2 ERCC3 ERCC4 TP53
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.54 CUL4A DDB1
8 nucleotide-excision repair factor 1 complex GO:0000110 9.54 ERCC1 ERCC4 XPA
9 transcription factor TFIIH holo complex GO:0005675 9.52 ERCC2 ERCC3
10 transcription factor TFIIH core complex GO:0000439 9.51 ERCC2 ERCC3
11 XPC complex GO:0071942 9.5 CETN2 RAD23B XPC
12 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.49 DDB1 DDB2
13 nucleotide-excision repair complex GO:0000109 9.26 ERCC1 ERCC4 ERCC5 XPC
14 nucleus GO:0005634 10.36 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.99 ERCC1 ERCC2 ERCC3 OGG1 XPA
2 UV protection GO:0009650 9.97 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA
3 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.96 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
4 base-excision repair GO:0006284 9.95 OGG1 RPA2 TP53 XPA XRCC1
5 double-strand break repair via homologous recombination GO:0000724 9.91 ERCC4 RPA2 XRCC1 XRCC3
6 UV-damage excision repair GO:0070914 9.91 DDB1 DDB2 ERCC1 XPA XPC
7 interstrand cross-link repair GO:0036297 9.9 ERCC1 ERCC4 RPA2 XRCC3
8 embryonic organ development GO:0048568 9.88 ERCC1 ERCC2 ERCC3 RAD23B
9 DNA recombination GO:0006310 9.87 ERCC1 RPA2 XRCC3
10 multicellular organism growth GO:0035264 9.87 ERCC1 ERCC2 XPA
11 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
12 regulation of mitotic cell cycle phase transition GO:1901990 9.84 DDB1 ERCC2 ERCC3 XPC
13 double-strand break repair via nonhomologous end joining GO:0006303 9.83 ERCC1 ERCC4 XRCC1
14 DNA damage response, detection of DNA damage GO:0042769 9.81 CUL4A DDB1 RPA2
15 translesion synthesis GO:0019985 9.8 POLH POLI RPA2
16 error-prone translesion synthesis GO:0042276 9.79 POLH POLI RPA2
17 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.75 ERCC1 ERCC4 ERCC5
18 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.74 ERCC1 ERCC4 XRCC1
19 telomeric DNA-containing double minutes formation GO:0061819 9.73 ERCC1 ERCC4 XRCC1
20 regulation of centrosome duplication GO:0010824 9.7 CETN2 XRCC3
21 error-free translesion synthesis GO:0070987 9.7 POLH RPA2
22 histone H2A monoubiquitination GO:0035518 9.69 DDB1 DDB2
23 t-circle formation GO:0090656 9.69 ERCC1 XRCC3
24 DNA topological change GO:0006265 9.69 ERCC3 RPA2
25 negative regulation of telomerase activity GO:0051974 9.68 ERCC4 TP53
26 response to UV-B GO:0010224 9.68 DDB2 XPC
27 telomere maintenance via recombination GO:0000722 9.68 RPA2 XRCC3
28 regulation of DNA damage checkpoint GO:2000001 9.68 CUL4A RPA2
29 response to auditory stimulus GO:0010996 9.67 XPA XPC
30 response to UV-C GO:0010225 9.67 ERCC5 POLH
31 mitotic recombination GO:0006312 9.67 ERCC1 RPA2
32 mitotic G1 DNA damage checkpoint GO:0031571 9.65 RPA2 TP53
33 pyrimidine dimer repair GO:0006290 9.65 DDB2 POLH
34 hair cell differentiation GO:0035315 9.65 ERCC2 ERCC3
35 transcription-coupled nucleotide-excision repair GO:0006283 9.65 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC4
36 negative regulation of telomere maintenance GO:0032205 9.64 ERCC1 ERCC4
37 regulation of mitotic recombination GO:0000019 9.64 ERCC2 ERCC3
38 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
39 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.62 ERCC2 ERCC3
40 nucleotide-excision repair, DNA damage recognition GO:0000715 9.17 CETN2 CUL4A DDB1 DDB2 RAD23B XPA
41 cellular response to DNA damage stimulus GO:0006974 10.45 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
42 DNA repair GO:0006281 10.41 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
43 nucleotide-excision repair GO:0006289 10.28 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
44 global genome nucleotide-excision repair GO:0070911 10.14 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
45 nucleotide-excision repair, DNA incision GO:0033683 10.11 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
46 viral process GO:0016032 10.06 CUL4A DDB1 ERCC2 ERCC3 TP53
47 nucleotide-excision repair, preincision complex assembly GO:0006294 10.06 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
48 response to UV GO:0009411 10 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 XPA

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.83 DDB1 DDB2 ERCC5 XPC
2 protein C-terminus binding GO:0008022 9.8 ERCC1 ERCC2 ERCC3 ERCC4
3 DNA binding GO:0003677 9.8 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
4 nuclease activity GO:0004518 9.73 ERCC1 ERCC4 ERCC5
5 endonuclease activity GO:0004519 9.73 ERCC1 ERCC4 ERCC5 OGG1
6 protein N-terminus binding GO:0047485 9.73 ERCC2 ERCC3 ERCC4 ERCC5 RPA2 TP53
7 DNA-dependent ATPase activity GO:0008094 9.63 ERCC2 ERCC3 XRCC3
8 single-stranded DNA binding GO:0003697 9.63 ERCC1 ERCC4 ERCC5 RAD23B RPA2 XPC
9 TFIID-class transcription factor complex binding GO:0001094 9.58 ERCC1 ERCC4 TP53
10 endodeoxyribonuclease activity GO:0004520 9.55 ERCC4 ERCC5
11 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.54 ERCC2 ERCC3
12 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.51 ERCC1 ERCC4
13 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 ERCC1 ERCC4 XRCC1
14 bubble DNA binding GO:0000405 9.48 ERCC5 XPC
15 damaged DNA binding GO:0003684 9.47 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
16 protein binding GO:0005515 10.37 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2

Sources for Xeroderma Pigmentosum, Variant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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