MCID: XRD012
MIFTS: 55

Xeroderma Pigmentosum, Group D

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group D

MalaCards integrated aliases for Xeroderma Pigmentosum, Group D:

Name: Xeroderma Pigmentosum, Group D 54 29 13
Xeroderma Pigmentosum, Complementation Group D 52 69
Xeroderma Pigmentosum Group D 12 14
Xeroderma Pigmentosum Viii 12 71
Xeroderma Pigmentosum Iv 12 71
Xp Group D 12 71
Xp Group H 12 71
Xpdc 12 71
Xp4 12 71
Xp8 12 71
Xph 12 71
Xeroderma Pigmentosum Complementation Group D 71
Xp-D/cs 71
Xp-D 71
Xpd 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
later onset of neurologic features


HPO:

32
xeroderma pigmentosum, group d:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Group D

UniProtKB/Swiss-Prot : 71 Xeroderma pigmentosum complementation group D: 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. Some XP-D patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex.

MalaCards based summary : Xeroderma Pigmentosum, Group D, also known as xeroderma pigmentosum, complementation group d, is related to cerebro-oculo-facio-skeletal syndrome and parkinsonism with spasticity, x-linked, and has symptoms including ataxia, hyporeflexia and spasticity. An important gene associated with Xeroderma Pigmentosum, Group D is ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include skin, eye and prostate, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Disease Ontology : 12 A xeroderma pigmentosum that has material basis in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

OMIM : 54
Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by acute photosensitivity and a predisposition to skin cancer on sun-exposed areas of the body. The primary defect in XP involves nucleotide excision repair (NER) (summary by Flejter et al., 1992). (278730)

Related Diseases for Xeroderma Pigmentosum, Group D

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 D via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
id Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 11.1
2 parkinsonism with spasticity, x-linked 11.0
3 cockayne syndrome type ii 10.8
4 xeroderma pigmentosum, group a 10.8
5 cerebrooculofacioskeletal syndrome 1 10.8
6 prostate cancer 10.2
7 prostatitis 10.2
8 lung cancer 10.2
9 cockayne syndrome 10.1
10 colorectal cancer 10.1
11 esophageal cancer 10.1
12 esophagitis 10.1
13 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma 10.1 OGG1 XRCC1
14 ceroid storage disease 10.0 ERCC1 ERCC2 ERCC3
15 myoma 9.9
16 xeroderma pigmentosum, group c 9.9
17 diffuse mesangial sclerosis 9.8 ERCC1 ERCC2 XRCC3
18 sugarman brachydactyly 9.7 RAD23B XPA XPC
19 lymphoplasmacytic lymphoma 9.7 ERCC1 ERCC2 XPA XRCC1
20 3-methylglutaconic aciduria, type i 9.6 ERCC1 XPA XPC
21 autosomal genetic disease 9.3 ERCC2 ERCC3 GTF2H5 XPA
22 myoclonic-atonic epilepsy 9.3 ERCC2 ERCC3 RAD23B XPA XPC
23 auditory neuropathy 9.2 APEX1 OGG1
24 mycetoma 9.0 ERCC2 RAD23B XPA XPC XRCC1 XRCC3
25 pleomorphic adenoma carcinoma 8.8 ERCC1 ERCC2 ERCC3 OGG1 XPA XPC
26 cerebrooculofacioskeletal syndrome 3 8.7 ERCC1 ERCC3 RAD23B XPA XRCC1 XRCC3
27 xfe progeroid syndrome 8.6 ERCC1 ERCC2 OGG1 RAD23B XPA XRCC3
28 xeroderma pigmentosum, group b 8.5 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
29 3-methylglutaconic aciduria, type iii 8.5 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
30 anemia, hemolytic, rh-null, regulator type 7.7 ERCC1 ERCC2 ERCC3 OGG1 RAD23B XPA
31 cerebrooculofacioskeletal syndrome 2 5.4 APEX1 CDA ERCC1 ERCC2 ERCC3 GTF2H5

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



Diseases related to Xeroderma Pigmentosum, Group D

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group D

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
ataxia
hyporeflexia
spasticity
choreoathetosis
mental deterioration
more
Skin Nails & Hair- 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
Head And Neck- Ears:
sensorineural deafness

Laboratory- Abnormalities:
defective dna repair after ultraviolet radiation damage

Head And Neck- Head:
microcephaly

Head And Neck- Eyes:
entropion
photophobia
conjunctivitis
ectropion
keratitis
more
Neoplasia:
early onset skin cancer (basal cell, squamous cell and malignant melanoma)


Clinical features from OMIM:

278730

Human phenotypes related to Xeroderma Pigmentosum, Group D:

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

UMLS symptoms related to Xeroderma Pigmentosum, Group D:


ataxia, muscle spasticity, photophobia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.44 RAD23B SIRT1 XPA XPC XRCC1 XRCC3

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group D:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
2 behavior/neurological MP:0005386 10.15 ERCC1 ERCC2 ERCC3 OGG1 RAD23B SIRT1
3 homeostasis/metabolism MP:0005376 10.14 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
4 growth/size/body region MP:0005378 10.13 XPA XPC XRCC1 XRCC4 APEX1 ERCC1
5 mortality/aging MP:0010768 10.07 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
6 endocrine/exocrine gland MP:0005379 10.06 APEX1 ERCC1 ERCC2 ERCC3 RAD23B SIRT1
7 immune system MP:0005387 10.02 APEX1 ERCC1 ERCC2 OGG1 RAD23B SIRT1
8 integument MP:0010771 9.92 ERCC1 ERCC2 ERCC3 RAD23B SIRT1 XPA
9 adipose tissue MP:0005375 9.91 ERCC1 ERCC2 RAD23B SIRT1 XPA
10 neoplasm MP:0002006 9.85 XPA XPC XRCC1 XRCC4 APEX1 ERCC1
11 reproductive system MP:0005389 9.56 APEX1 ERCC1 ERCC2 ERCC3 RAD23B SIRT1
12 vision/eye MP:0005391 9.1 ERCC3 RAD23B SIRT1 XPA XPC ERCC2

Drugs & Therapeutics for Xeroderma Pigmentosum, Group D

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population Not yet recruiting NCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Group D

Genetic Tests for Xeroderma Pigmentosum, Group D

Genetic tests related to Xeroderma Pigmentosum, Group D:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group D 29

Anatomical Context for Xeroderma Pigmentosum, Group D

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

39
Skin, Eye, Prostate, Lung

Publications for Xeroderma Pigmentosum, Group D

Articles related to Xeroderma Pigmentosum, Group D:

(show all 30)
id Title Authors Year
1
Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotypes to Colorectal Cancer Risk in Taiwan. ( 27069143 )
2016
2
Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan. ( 26254397 )
2015
3
The Association of the Xeroderma Pigmentosum Group D DNA Helicase (XPD) with Transcription Factor IIH Is Regulated by the Cytosolic Iron-Sulfur Cluster Assembly Pathway. ( 25897079 )
2015
4
Association of xeroderma pigmentosum group D (Asp312Asn, Lys751Gln) and cytidine deaminase (Lys27Gln, Ala70Thr) polymorphisms with outcome in Chinese non-small cell lung cancer patients treated with cisplatin-gemcitabine. ( 24841663 )
2014
5
Xeroderma pigmentosum group D polymorphisms and esophageal cancer susceptibility: a meta-analysis based on case-control studies. ( 25469049 )
2014
6
DNA quality control by a lesion sensor pocket of the xeroderma pigmentosum group D helicase subunit of TFIIH. ( 23352696 )
2013
7
Genetic polymorphisms of xeroderma pigmentosum group D gene Asp312Asn and Lys751Gln and susceptibility to prostate cancer: a systematic review and meta-analysis. ( 23973729 )
2013
8
Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. ( 23267107 )
2013
9
Genetic polymorphisms of xeroderma pigmentosum group D and prostate cancer risk: a meta-analysis. ( 23771356 )
2013
10
Impact of two common xeroderma pigmentosum group D (XPD) gene polymorphisms on risk of prostate cancer. ( 23028604 )
2012
11
Association of cytidine deaminase and xeroderma pigmentosum group D polymorphisms with response, toxicity, and survival in cisplatin/gemcitabine-treated advanced non-small cell lung cancer patients. ( 22052224 )
2011
12
DNA repair gene X-ray repair cross-complementing group 1 and xeroderma pigmentosum group D polymorphisms and risk of prostate cancer: a study from North India. ( 20070155 )
2010
13
[DNA repair gene xeroderma pigmentosum group D 751 polymorphism and the risk on esophageal cancer: a meta-analysis]. ( 19642387 )
2009
14
[Clone of human xeroderma pigmentosum group D cDNA and analysis of its expression and function]. ( 18693453 )
2008
15
X-ray repair cross-complementing group 4 (XRCC4) promoter -1394( *)T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter -114, polymorphisms are correlated with higher susceptibility to myoma. ( 18177646 )
2008
16
Importance of xeroderma pigmentosum group D polymorphisms in susceptibility to ovarian cancer. ( 16677755 )
2007
17
Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy. ( 17009404 )
2006
18
Xeroderma pigmentosum group D haplotype predicts for response, survival, and toxicity after platinum-based chemotherapy in advanced nonsmall cell lung cancer. ( 16649224 )
2006
19
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. ( 16135823 )
2005
20
Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. ( 12948486 )
2003
21
Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation. ( 12116233 )
2002
22
The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. ( 11156600 )
2001
23
A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer. ( 11751380 )
2001
24
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. ( 9426063 )
1998
25
Defects in the DNA repair and transcription gene ERCC2 in the cancer- prone disorder xeroderma pigmentosum group D. ( 7585650 )
1995
26
Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD. ( 7629061 )
1995
27
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells. ( 8033104 )
1994
28
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. ( 7920640 )
1994
29
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. ( 7849702 )
1994
30
Human Xeroderma pigmentosum group D gene encodes a DNA helicase. ( 8413672 )
1993

Variations for Xeroderma Pigmentosum, Group D

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

71 (show all 18)
id Symbol AA change Variation ID SNP ID
1 ERCC2 p.Arg112His VAR_003622 rs121913020
2 ERCC2 p.Leu461Val VAR_003623 rs121913016
3 ERCC2 p.Ser541Arg VAR_003625 rs121913019
4 ERCC2 p.Arg616Pro VAR_003626 rs376556895
5 ERCC2 p.Gly602Asp VAR_003627 rs771824813
6 ERCC2 p.Gly47Arg VAR_008187
7 ERCC2 p.Asp234Asn VAR_008188
8 ERCC2 p.Tyr542Cys VAR_008191
9 ERCC2 p.Arg601Leu VAR_008192 rs140522180
10 ERCC2 p.Arg616Trp VAR_008193 rs121913024
11 ERCC2 p.Arg683Gln VAR_008197
12 ERCC2 p.Arg683Trp VAR_008198 rs41556519
13 ERCC2 p.Thr76Ala VAR_017282
14 ERCC2 p.Leu485Pro VAR_017283 rs121913025
15 ERCC2 p.Arg511Gln VAR_017285 rs772572683
16 ERCC2 p.Arg601Trp VAR_017289 rs753641926
17 ERCC2 p.Arg666Trp VAR_017292 rs752510317
18 ERCC2 p.Asp681Asn VAR_017293 rs121913023

ClinVar genetic disease variations for Xeroderma Pigmentosum, Group D:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh37 Chromosome 19, 45860626: 45860626
2 ERCC2 NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter) single nucleotide variant Pathogenic rs121913017 GRCh37 Chromosome 19, 45855481: 45855481
3 ERCC2 ERCC2, 4-BP DEL, NT668 deletion Pathogenic
4 ERCC2 NM_000400.3(ERCC2): c.1621A> C (p.Ser541Arg) single nucleotide variant Pathogenic rs121913019 GRCh37 Chromosome 19, 45858032: 45858032
5 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh37 Chromosome 19, 45871913: 45871913
6 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
7 ERCC2 ERCC2, 2-BP DEL, 1781TT deletion Pathogenic
8 ERCC2 ERCC2, 3-BP DEL/6-BP INS, NT1823 indel Pathogenic
9 ERCC2 NM_000400.3(ERCC2): c.1454T> C (p.Leu485Pro) single nucleotide variant Pathogenic rs121913025 GRCh37 Chromosome 19, 45860553: 45860553
10 ERCC2 NM_000400.3(ERCC2): c.2047C> T (p.Arg683Trp) single nucleotide variant Pathogenic rs41556519 GRCh37 Chromosome 19, 45855610: 45855610
11 ERCC2 NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln) single nucleotide variant Pathogenic rs758439420 GRCh38 Chromosome 19, 45352351: 45352351
12 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094

Expression for Xeroderma Pigmentosum, Group D

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

Pathways for Xeroderma Pigmentosum, Group D

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
2
Show member pathways
12.66 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
3 12.32 APEX1 ERCC1 ERCC2 ERCC3 RAD23B XPA
4 11.93 APEX1 ERCC2 ERCC3 GTF2H5 XPA XPC
5
Show member pathways
11.93 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
6
Show member pathways
11.76 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
7
Show member pathways
11.65 ERCC2 ERCC3 GTF2H5
8 11.17 ERCC1 ERCC2 ERCC3 XPA
9 11.01 APEX1 SIRT1
10 10.84 SIRT1 XRCC4

GO Terms for Xeroderma Pigmentosum, Group D

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

id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.78 APEX1 GTF2H5 SIRT1 XPC
2 nuclear chromosome, telomeric region GO:0000784 9.62 APEX1 ERCC1 XRCC1 XRCC3
3 holo TFIIH complex GO:0005675 9.46 ERCC2 ERCC3
4 nucleoplasm GO:0005654 9.44 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
5 ERCC4-ERCC1 complex GO:0070522 9.43 ERCC1 XRCC1
6 nucleotide-excision repair factor 1 complex GO:0000110 9.4 ERCC1 XPA
7 XPC complex GO:0071942 9.37 RAD23B XPC
8 core TFIIH complex GO:0000439 9.33 ERCC2 ERCC3 GTF2H5
9 transcription factor TFIID complex GO:0005669 9.26 ERCC1 ERCC2 ERCC3 GTF2H5
10 nucleus GO:0005634 10.07 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1

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

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 APEX1 OGG1 XPC XRCC1
2 DNA repair GO:0006281 9.97 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
3 transcription-coupled nucleotide-excision repair GO:0006283 9.95 ERCC1 ERCC2 ERCC3 GTF2H5 XPA XRCC1
4 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.89 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
5 DNA recombination GO:0006310 9.88 APEX1 ERCC1 XRCC3 XRCC4
6 nucleotide-excision repair, DNA incision GO:0033683 9.88 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1 XPA
7 aging GO:0007568 9.86 APEX1 ERCC2 OGG1
8 base-excision repair GO:0006284 9.86 APEX1 OGG1 XPA XRCC1
9 response to hypoxia GO:0001666 9.85 ERCC2 ERCC3 XRCC1
10 transcription initiation from RNA polymerase II promoter GO:0006367 9.85 ERCC2 ERCC3 GTF2H5
11 embryonic organ development GO:0048568 9.85 ERCC1 ERCC2 ERCC3 RAD23B
12 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.85 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
13 nucleotide-excision repair, preincision complex assembly GO:0006294 9.85 ERCC2 ERCC3 GTF2H5 RAD23B XPA XPC
14 transcription elongation from RNA polymerase II promoter GO:0006368 9.84 ERCC2 ERCC3 GTF2H5
15 UV protection GO:0009650 9.84 ERCC1 ERCC2 ERCC3 XPA
16 multicellular organism growth GO:0035264 9.83 ERCC1 ERCC2 XPA
17 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.83 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
18 double-strand break repair via nonhomologous end joining GO:0006303 9.82 ERCC1 XRCC1 XRCC4
19 response to UV GO:0009411 9.81 ERCC2 ERCC3 XPA
20 UV-damage excision repair GO:0070914 9.81 ERCC1 SIRT1 XPA XPC
21 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.8 ERCC2 ERCC3 GTF2H5 RAD23B XPA XPC
22 transcription initiation from RNA polymerase I promoter GO:0006361 9.79 ERCC2 ERCC3 GTF2H5
23 7-methylguanosine mRNA capping GO:0006370 9.78 ERCC2 ERCC3 GTF2H5
24 transcription elongation from RNA polymerase I promoter GO:0006362 9.77 ERCC2 ERCC3 GTF2H5
25 termination of RNA polymerase I transcription GO:0006363 9.77 ERCC2 ERCC3 GTF2H5
26 nucleotide-excision repair, DNA damage recognition GO:0000715 9.75 RAD23B XPA XPC
27 regulation of mitotic cell cycle phase transition GO:1901990 9.74 ERCC2 ERCC3 XPC
28 DNA synthesis involved in DNA repair GO:0000731 9.68 SIRT1 XRCC3
29 response to X-ray GO:0010165 9.67 ERCC1 XRCC4
30 t-circle formation GO:0090656 9.66 ERCC1 XRCC3
31 response to auditory stimulus GO:0010996 9.66 XPA XPC
32 single strand break repair GO:0000012 9.65 SIRT1 XRCC1
33 hair cell differentiation GO:0035315 9.64 ERCC2 ERCC3
34 regulation of protein import into nucleus, translocation GO:0033158 9.63 OGG1 SIRT1
35 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.63 ERCC1 SIRT1
36 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.62 ERCC1 XRCC1
37 telomeric DNA-containing double minutes formation GO:0061819 9.62 ERCC1 XRCC1
38 nucleotide-excision repair GO:0006289 9.56 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1 RAD23B
39 global genome nucleotide-excision repair GO:0070911 9.17 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
40 cellular response to DNA damage stimulus GO:0006974 10.07 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
41 response to oxidative stress GO:0006979 10 ERCC1 ERCC2 ERCC3 OGG1 SIRT1 XPA

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 APEX1 ERCC1 ERCC2 ERCC3 OGG1 XPA
2 endonuclease activity GO:0004519 9.61 APEX1 ERCC1 OGG1
3 DNA-dependent ATPase activity GO:0008094 9.54 ERCC2 ERCC3 XRCC3
4 ATP-dependent DNA helicase activity GO:0004003 9.51 ERCC2 ERCC3
5 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.49 ERCC2 ERCC3
6 DNA-(apurinic or apyrimidinic site) lyase activity GO:0003906 9.48 APEX1 OGG1
7 single-stranded DNA binding GO:0003697 9.46 ERCC1 RAD23B XPC XRCC3
8 protein C-terminus binding GO:0008022 9.35 ERCC1 ERCC2 ERCC3 SIRT1 XRCC4
9 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.32 ERCC1 XRCC1
10 damaged DNA binding GO:0003684 9.23 APEX1 ERCC1 ERCC3 OGG1 RAD23B XPA
11 protein binding GO:0005515 10.25 APEX1 CDA ERCC1 ERCC2 ERCC3 GTF2H5
12 hydrolase activity GO:0016787 10 APEX1 CDA ERCC1 ERCC2 ERCC3 OGG1

Sources for Xeroderma Pigmentosum, Group D

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
Content
Loading form....