MCID: XRD022
MIFTS: 52

Xeroderma Pigmentosum, Complementation Group D

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group D

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group D:

Name: Xeroderma Pigmentosum, Complementation Group D 57 55 40 73
Xeroderma Pigmentosum, Group D 57 29 13 6
Xeroderma Pigmentosum Iv 57 12 75
Xpdc 57 12 75
Xeroderma Pigmentosum Group D 12 15
Xeroderma Pigmentosum Viii 12 75
Xp Group D 12 75
Xp Group H 12 75
Xpd 57 12
Xp4 12 75
Xp8 12 75
Xph 12 75
Xp4 Xeroderma Pigmentosum Viii, Formerly; Xp8, Formerly 57
Xeroderma Pigmentosum Complementation Group D 75
Xp4 Xeroderma Pigmentosum Viii, Formerly 57
Xp, Group H, Formerly; Xph, Formerly 57
Xp, Group H, Formerly 57
Xp, Group D; Xpdc 57
Xp8, Formerly 57
Xph, Formerly 57
Xp, Group D 57
Xp-D/cs 75
Xp-D 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
later onset of neurologic features


HPO:

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


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group D

UniProtKB/Swiss-Prot : 75 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, Complementation Group D, also known as xeroderma pigmentosum, group d, is related to cerebro-oculo-facio-skeletal syndrome and xeroderma pigmentosum, complementation group a, and has symptoms including ataxia, muscle spasticity and photophobia. An important gene associated with Xeroderma Pigmentosum, Complementation 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 lung, and related phenotypes are intellectual disability and ataxia

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 : 57 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, Complementation Group D

Diseases in the Xeroderma Pigmentosum, Complementation Group D family:

Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 32.4 ERCC1 ERCC2 ERCC3
2 xeroderma pigmentosum, complementation group a 31.7 ERCC1 XPA
3 cockayne syndrome 30.2 ERCC1 ERCC2 ERCC3 XPA
4 trichothiodystrophy 1, photosensitive 29.8 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
5 xeroderma pigmentosum, variant type 27.6 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
6 lung cancer 26.7 ERCC1 ERCC2 GSTM1 GSTP1 OGG1 XRCC1
7 parkinsonism with spasticity, x-linked 11.2
8 cockayne syndrome type ii 10.9
9 cockayne syndrome b 10.6 ERCC2 XPA
10 attenuated familial adenomatous polyposis 10.3 APEX1 OGG1
11 xeroderma pigmentosum, complementation group c 10.1 ERCC3 RAD23B XPA
12 bladder cancer 10.1
13 xeroderma pigmentosum group e 10.0 ERCC1 RAD23B XPA
14 oral leukoplakia 9.9 GSTM1 XRCC1
15 fanconi anemia, complementation group a 9.7 BRIP1 ERCC1 ERCC2
16 autosomal genetic disease 9.7 ERCC1 ERCC2 XPA XRCC1 XRCC3
17 hearing loss, noise-induced 9.7 GSTM1 GSTT1
18 isolated cleft lip 9.6 GSTM1 GSTT1
19 autosomal recessive disease 9.6 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
20 drug-induced hepatitis 9.5 GSTM1 GSTT1
21 sister chromatid exchange, frequency of 9.4 GSTM1 GSTT1 XRCC1
22 senile cataract 9.4 GSTM1 GSTT1 XRCC1
23 oral cavity cancer 9.3 ERCC1 GSTM1 GSTT1
24 leukoplakia 9.2 GSTM1 GSTT1
25 xeroderma pigmentosum, complementation group f 9.2 ERCC1 ERCC2 RAD23B XPA XRCC1 XRCC3
26 xeroderma pigmentosum, complementation group g 9.2 ERCC1 ERCC3 RAD23B XPA XRCC1 XRCC3
27 xeroderma pigmentosum, complementation group b 9.1 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
28 arteritic anterior ischemic optic neuropathy 9.0 GSTM1 GSTT1
29 larynx cancer 8.9 GSTM1 GSTP1 GSTT1
30 asbestosis 8.6 GSTM1 GSTP1 GSTT1 OGG1
31 esophageal cancer 8.4 ERCC1 GSTM1 GSTP1 GSTT1
32 basal cell carcinoma 8.1 ERCC1 ERCC2 GSTM1 GSTT1 XPA XRCC1
33 diffuse gastric cancer 8.1 ERCC1 ERCC2 GSTM1 GSTP1 GSTT1 XRCC3
34 mutagen sensitivity 8.0 ERCC2 GSTM1 GSTT1 RAD23B XPA XRCC1

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



Diseases related to Xeroderma Pigmentosum, Complementation Group D

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group D

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
spasticity
mental deterioration
hyporeflexia
choreoathetosis
more
Head And Neck Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion
more
Head And Neck Ears:
sensorineural deafness

Laboratory Abnormalities:
defective dna repair after ultraviolet radiation damage

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Neoplasia:
early onset skin cancer (basal cell, squamous cell and malignant melanoma)


Clinical features from OMIM:

278730

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

32 (show all 21)
# 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 keratitis 32 HP:0000491
8 keratoconjunctivitis sicca 32 occasional (7.5%) HP:0001097
9 corneal neovascularization 32 occasional (7.5%) HP:0011496
10 microphthalmia 32 HP:0000568
11 conjunctivitis 32 HP:0000509
12 mental deterioration 32 HP:0001268
13 hyporeflexia 32 HP:0001265
14 choreoathetosis 32 HP:0001266
15 cutaneous photosensitivity 32 HP:0000992
16 ectropion 32 HP:0000656
17 telangiectasia 32 HP:0001009
18 poikiloderma 32 HP:0001029
19 entropion 32 HP:0000621
20 dermal atrophy 32 HP:0004334
21 defective dna repair after ultraviolet radiation damage 32 HP:0003079

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:


ataxia, muscle spasticity, photophobia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Complementation Group D:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ERCC3 OGG1 RAD23B APEX1 XPA BRIP1
2 mortality/aging MP:0010768 9.85 ERCC3 GTF2H5 OGG1 RAD23B APEX1 XPA
3 endocrine/exocrine gland MP:0005379 9.8 ERCC2 ERCC3 RAD23B APEX1 XPA BRIP1
4 neoplasm MP:0002006 9.56 ERCC3 OGG1 APEX1 XPA BRIP1 XRCC1
5 reproductive system MP:0005389 9.17 ERCC3 RAD23B APEX1 XPA BRIP1 ERCC1

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group D

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population Unknown status NCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group D

Genetic Tests for Xeroderma Pigmentosum, Complementation Group D

Genetic tests related to Xeroderma Pigmentosum, Complementation Group D:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group D 29 ERCC2

Anatomical Context for Xeroderma Pigmentosum, Complementation Group D

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

41
Skin, Eye, Lung

Publications for Xeroderma Pigmentosum, Complementation Group D

Articles related to Xeroderma Pigmentosum, Complementation Group D:

# Title Authors Year
1
Xeroderma pigmentosum, complementation group D expression in H1299 lung cancer cells following benzo[a]pyrene exposure as well as in head and neck cancer patients. ( 26731659 )
2016
2
Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis. ( 24347488 )
2013
3
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. ( 7825573 )
1995
4
Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. ( 1729695 )
1992

Variations for Xeroderma Pigmentosum, Complementation Group D

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

75 (show all 18)
# 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 rs758439420
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, Complementation Group D:

6
(show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC2 ERCC2, 4-BP DEL, NT668 deletion Pathogenic
2 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh37 Chromosome 19, 45860626: 45860626
3 ERCC2 NM_000400.3(ERCC2): c.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh38 Chromosome 19, 45357368: 45357368
4 ERCC2 NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter) single nucleotide variant Pathogenic rs121913017 GRCh37 Chromosome 19, 45855481: 45855481
5 ERCC2 NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter) single nucleotide variant Pathogenic rs121913017 GRCh38 Chromosome 19, 45352223: 45352223
6 ERCC2 NM_000400.3(ERCC2): c.1621A> C (p.Ser541Arg) single nucleotide variant Pathogenic rs121913019 GRCh37 Chromosome 19, 45858032: 45858032
7 ERCC2 NM_000400.3(ERCC2): c.1621A> C (p.Ser541Arg) single nucleotide variant Pathogenic rs121913019 GRCh38 Chromosome 19, 45354774: 45354774
8 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh37 Chromosome 19, 45871913: 45871913
9 ERCC2 NM_000400.3(ERCC2): c.335G> A (p.Arg112His) single nucleotide variant Pathogenic rs121913020 GRCh38 Chromosome 19, 45368655: 45368655
10 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh37 Chromosome 19, 45856060: 45856060
11 ERCC2 NM_000400.3(ERCC2): c.1846C> T (p.Arg616Trp) single nucleotide variant Pathogenic rs121913024 GRCh38 Chromosome 19, 45352802: 45352802
12 ERCC2 ERCC2, 2-BP DEL, 1781TT deletion Pathogenic
13 ERCC2 ERCC2, 3-BP DEL/6-BP INS, NT1823 indel Pathogenic
14 ERCC2 NM_000400.3(ERCC2): c.1454T> C (p.Leu485Pro) single nucleotide variant Pathogenic rs121913025 GRCh37 Chromosome 19, 45860553: 45860553
15 ERCC2 NM_000400.3(ERCC2): c.1454T> C (p.Leu485Pro) single nucleotide variant Pathogenic rs121913025 GRCh38 Chromosome 19, 45357295: 45357295
16 ERCC2 NM_000400.3(ERCC2): c.2047C> T (p.Arg683Trp) single nucleotide variant Pathogenic/Likely pathogenic rs41556519 GRCh37 Chromosome 19, 45855610: 45855610
17 ERCC2 NM_000400.3(ERCC2): c.2047C> T (p.Arg683Trp) single nucleotide variant Pathogenic/Likely pathogenic rs41556519 GRCh38 Chromosome 19, 45352352: 45352352
18 ERCC2 NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln) single nucleotide variant Pathogenic rs758439420 GRCh38 Chromosome 19, 45352351: 45352351
19 ERCC2 NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln) single nucleotide variant Pathogenic rs758439420 GRCh37 Chromosome 19, 45855609: 45855609
20 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094
21 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh38 Chromosome 19, 45364833: 45364836
22 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh37 Chromosome 19, 45855763: 45855763
23 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh38 Chromosome 19, 45352505: 45352505

Expression for Xeroderma Pigmentosum, Complementation Group D

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

Pathways for Xeroderma Pigmentosum, Complementation Group D

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5
2
Show member pathways
12.68 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
3
Show member pathways
12.53 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
4 12.08 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GSTP1
5
Show member pathways
12.06 GSTM1 GSTP1 GSTT1
6
Show member pathways
12.04 BRIP1 ERCC1 XRCC3
7 11.91 APEX1 ERCC2 ERCC3 GTF2H5 XPA
8 11.87 GSTM1 GSTP1 GSTT1
9
Show member pathways
11.8 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
10
Show member pathways
11.75 ERCC2 ERCC3 GTF2H5
11 11.63 ERCC1 GSTM1 GSTP1 GSTT1 XPA
12
Show member pathways
11.57 GSTM1 GSTP1 GSTT1
13
Show member pathways
11.3 APEX1 GSTM1 GSTP1
14
Show member pathways
11.05 ERCC1 GSTP1
15 11.01 GSTM1 GSTP1 GSTT1
16 10.71 GSTP1 GSTT1
17 10.63 ERCC1 ERCC2 ERCC3 GSTM1 GSTP1 GSTT1
18 10.62 BRIP1 ERCC2

GO Terms for Xeroderma Pigmentosum, Complementation Group D

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.9 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5
2 nuclear chromosome, telomeric region GO:0000784 9.56 APEX1 ERCC1 XRCC1 XRCC3
3 holo TFIIH complex GO:0005675 9.43 ERCC2 ERCC3
4 ERCC4-ERCC1 complex GO:0070522 9.37 ERCC1 XRCC1
5 nucleotide-excision repair factor 1 complex GO:0000110 9.32 ERCC1 XPA
6 core TFIIH complex GO:0000439 9.13 ERCC2 ERCC3 GTF2H5
7 transcription factor TFIID complex GO:0005669 8.92 ERCC1 ERCC2 ERCC3 GTF2H5
8 nucleus GO:0005634 10.18 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GSTP1

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.95 ERCC1 ERCC2 ERCC3 OGG1 XPA
2 transcription-coupled nucleotide-excision repair GO:0006283 9.93 ERCC1 ERCC2 ERCC3 GTF2H5 XPA XRCC1
3 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.89 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
4 nucleotide-excision repair, preincision complex assembly GO:0006294 9.88 ERCC2 ERCC3 GTF2H5 RAD23B XPA
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.85 ERCC2 ERCC3 GTF2H5
6 aging GO:0007568 9.85 APEX1 ERCC2 OGG1
7 response to hypoxia GO:0001666 9.85 ERCC2 ERCC3 XRCC1
8 embryonic organ development GO:0048568 9.84 ERCC1 ERCC2 ERCC3 RAD23B
9 DNA recombination GO:0006310 9.83 APEX1 ERCC1 XRCC3
10 response to toxic substance GO:0009636 9.83 BRIP1 GSTP1 XPA
11 base-excision repair GO:0006284 9.83 APEX1 OGG1 XPA XRCC1
12 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.83 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
13 transcription elongation from RNA polymerase II promoter GO:0006368 9.82 ERCC2 ERCC3 GTF2H5
14 multicellular organism growth GO:0035264 9.81 ERCC1 ERCC2 XPA
15 UV protection GO:0009650 9.81 ERCC1 ERCC2 ERCC3 XPA
16 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.8 ERCC2 ERCC3 GTF2H5 RAD23B XPA
17 nucleotide-excision repair, DNA incision GO:0033683 9.8 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1 XPA
18 glutathione metabolic process GO:0006749 9.79 GSTM1 GSTP1 GSTT1
19 response to UV GO:0009411 9.79 ERCC2 ERCC3 XPA
20 7-methylguanosine mRNA capping GO:0006370 9.77 ERCC2 ERCC3 GTF2H5
21 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.77 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
22 transcription initiation from RNA polymerase I promoter GO:0006361 9.76 ERCC2 ERCC3 GTF2H5
23 termination of RNA polymerase I transcription GO:0006363 9.75 ERCC2 ERCC3 GTF2H5
24 transcription elongation from RNA polymerase I promoter GO:0006362 9.74 ERCC2 ERCC3 GTF2H5
25 glutathione derivative biosynthetic process GO:1901687 9.73 GSTM1 GSTP1 GSTT1
26 global genome nucleotide-excision repair GO:0070911 9.73 ERCC1 ERCC2 ERCC3 GTF2H5 RAD23B XPA
27 nucleotide-excision repair GO:0006289 9.7 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1 RAD23B
28 cellular response to DNA damage stimulus GO:0006974 9.7 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5
29 DNA synthesis involved in DNA repair GO:0000731 9.68 BRIP1 XRCC3
30 strand displacement GO:0000732 9.67 BRIP1 XRCC3
31 nucleotide-excision repair, DNA damage recognition GO:0000715 9.66 RAD23B XPA
32 mitotic recombination GO:0006312 9.65 ERCC1 XRCC3
33 t-circle formation GO:0090656 9.64 ERCC1 XRCC3
34 UV-damage excision repair GO:0070914 9.64 ERCC1 XPA
35 regulation of mitotic cell cycle phase transition GO:1901990 9.63 ERCC2 ERCC3
36 hair cell differentiation GO:0035315 9.62 ERCC2 ERCC3
37 telomeric DNA-containing double minutes formation GO:0061819 9.61 ERCC1 XRCC1
38 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.6 ERCC1 XRCC1
39 DNA repair GO:0006281 9.36 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GTF2H5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.77 ERCC1 ERCC2 ERCC3
2 helicase activity GO:0004386 9.75 BRIP1 ERCC2 ERCC3
3 single-stranded DNA binding GO:0003697 9.69 ERCC1 RAD23B XRCC3
4 endonuclease activity GO:0004519 9.65 APEX1 ERCC1 OGG1
5 endodeoxyribonuclease activity GO:0004520 9.58 APEX1 XRCC3
6 glutathione peroxidase activity GO:0004602 9.57 GSTP1 GSTT1
7 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.56 BRIP1 ERCC2
8 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.55 ERCC2 ERCC3
9 DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0003906 9.54 APEX1 OGG1
10 ATP-dependent helicase activity GO:0008026 9.52 BRIP1 ERCC2
11 DNA-dependent ATPase activity GO:0008094 9.5 ERCC2 ERCC3 XRCC3
12 glutathione binding GO:0043295 9.49 GSTM1 GSTP1
13 class I DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140078 9.46 APEX1 OGG1
14 class III/IV DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140080 9.43 APEX1 OGG1
15 glutathione transferase activity GO:0004364 9.33 GSTM1 GSTP1 GSTT1
16 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.26 ERCC1 XRCC1
17 damaged DNA binding GO:0003684 9.17 APEX1 ERCC1 ERCC3 OGG1 RAD23B XPA
18 ATP-dependent DNA helicase activity GO:0004003 9.13 BRIP1 ERCC2 ERCC3
19 protein binding GO:0005515 10.21 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 GSTM1
20 hydrolase activity GO:0016787 10.08 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 OGG1
21 DNA binding GO:0003677 10.01 APEX1 BRIP1 ERCC1 ERCC2 ERCC3 OGG1

Sources for Xeroderma Pigmentosum, Complementation Group D

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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