XP-D
MCID: XRD022
MIFTS: 54

Xeroderma Pigmentosum, Complementation Group D (XP-D)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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
Xpd 57 12 15
Xeroderma Pigmentosum Group D 12 15
Xeroderma Pigmentosum Viii 12 75
Xp Group D 12 75
Xp Group H 12 75
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, photophobia and muscle spasticity. 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 Transcription-Coupled Nucleotide Excision Repair (TC-NER) and DNA Double-Strand Break Repair. 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 top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 cerebro-oculo-facio-skeletal syndrome 32.2 ERCC1 ERCC2 ERCC3
2 xeroderma pigmentosum, complementation group a 31.7 ERCC1 XPA
3 xeroderma pigmentosum, complementation group c 30.3 ERCC3 RAD23B XPA
4 trichothiodystrophy 1, photosensitive 30.1 ERCC1 ERCC2 ERCC3 GTF2H5 XPA
5 xeroderma pigmentosum, variant type 30.1 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
6 cockayne syndrome 30.1 ERCC1 ERCC2 ERCC3 GTF2H1 XPA
7 leukoplakia 29.5 GSTM1 GSTT1
8 oral leukoplakia 29.3 GSTM1 GSTT1 XRCC1
9 lung cancer susceptibility 3 29.3 ERCC1 GSTP1 OGG1 XRCC1
10 esophageal cancer 29.3 ERCC1 GSTM1 GSTP1 GSTT1
11 lung cancer 29.2 ERCC1 ERCC2 GSTM1 GSTP1 GSTT1 OGG1
12 basal cell carcinoma 29.2 ERCC1 ERCC2 GSTM1 GSTT1 XPA XRCC1
13 parkinsonism with spasticity, x-linked 11.3
14 cockayne syndrome type ii 11.1
15 small cell cancer of the lung 10.4
16 colorectal cancer 10.3
17 breast cancer 10.3
18 squamous cell carcinoma 10.3
19 cataract 10.2
20 bladder cancer 10.2
21 lung cancer susceptibility 1 10.2
22 myeloid leukemia 10.2
23 lentigines 10.1
24 myoma 10.1
25 hepatocellular carcinoma 10.1
26 prostate cancer 10.1
27 leukemia, acute myeloid 10.1
28 leukemia 10.1
29 melanoma 10.1
30 adenocarcinoma 10.1
31 attenuated familial adenomatous polyposis 10.1 APEX1 OGG1
32 gastric cancer 10.1
33 xeroderma pigmentosum group e 10.1 RAD23B XPA
34 basal cell carcinoma 1 10.0
35 autosomal genetic disease 10.0 ERCC1 ERCC2 XPA XRCC1
36 aging 10.0
37 nasopharyngeal carcinoma 10.0
38 hepatitis 10.0
39 hepatitis b 10.0
40 oral cancer 10.0
41 autosomal recessive disease 10.0 ERCC2 ERCC3 GTF2H5 XPA
42 hearing loss, noise-induced 9.9 GSTM1 GSTT1
43 renal cell carcinoma, nonpapillary 9.9
44 squamous cell carcinoma, head and neck 9.9
45 leukemia, acute lymphoblastic 9.9
46 colorectal adenoma 9.9
47 lymphoma 9.9
48 lymphocytic leukemia 9.9
49 sarcoma 9.9
50 adenoma 9.9

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 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 cataract 32 HP:0000518
5 microcephaly 32 HP:0000252
6 sensorineural hearing impairment 32 HP:0000407
7 photophobia 32 HP:0000613
8 melanoma 32 HP:0002861
9 keratitis 32 HP:0000491
10 keratoconjunctivitis sicca 32 occasional (7.5%) HP:0001097
11 corneal neovascularization 32 occasional (7.5%) HP:0011496
12 microphthalmia 32 HP:0000568
13 conjunctivitis 32 HP:0000509
14 mental deterioration 32 HP:0001268
15 hyporeflexia 32 HP:0001265
16 choreoathetosis 32 HP:0001266
17 cutaneous photosensitivity 32 HP:0000992
18 ectropion 32 HP:0000656
19 telangiectasia 32 HP:0001009
20 poikiloderma 32 HP:0001029
21 entropion 32 HP:0000621
22 dermal atrophy 32 HP:0004334
23 defective dna repair after ultraviolet radiation damage 32 HP:0003079

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group D:


ataxia, photophobia, muscle spasticity

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 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.65 APEX1 ERCC1 ERCC2 ERCC3 GTF2H5 OGG1
2 neoplasm MP:0002006 9.17 APEX1 ERCC1 ERCC2 ERCC3 OGG1 XPA

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, Ovary, Prostate, Thyroid, Myeloid

Publications for Xeroderma Pigmentosum, Complementation Group D

Articles related to Xeroderma Pigmentosum, Complementation Group D:

# Title Authors Year
1
Xeroderma pigmentosum complementation group D polymorphism toward lung cancer susceptibility survival and response in patients treated with platinum chemotherapy. ( 29035087 )
2017
2
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
3
A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing. ( 26993158 )
2016
4
Xeroderma pigmentosum complementation group D (XPD) gene polymorphisms contribute to bladder cancer risk: a meta-analysis. ( 24347488 )
2014
5
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
6
Repair of N-methylpurines in the mitochondrial DNA of xeroderma pigmentosum complementation group D cells. ( 8504484 )
1993
7
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
8
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. ( 3770739 )
1986

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 25)
# 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.1381C> G (p.Leu461Val) single nucleotide variant Pathogenic rs121913016 GRCh38 Chromosome 19, 45357368: 45357368
3 ERCC2 NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter) single nucleotide variant Pathogenic rs121913017 GRCh37 Chromosome 19, 45855481: 45855481
4 ERCC2 NM_000400.3(ERCC2): c.2176C> T (p.Gln726Ter) single nucleotide variant Pathogenic rs121913017 GRCh38 Chromosome 19, 45352223: 45352223
5 ERCC2 ERCC2, 4-BP DEL, NT668 deletion Pathogenic
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.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh37 Chromosome 19, 45856019: 45856019
19 ERCC2 NM_000400.3(ERCC2): c.1887G> C (p.Gln629His) single nucleotide variant Uncertain significance rs200665173 GRCh38 Chromosome 19, 45352761: 45352761
20 ERCC2 NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln) single nucleotide variant Pathogenic rs758439420 GRCh38 Chromosome 19, 45352351: 45352351
21 ERCC2 NM_000400.3(ERCC2): c.2048G> A (p.Arg683Gln) single nucleotide variant Pathogenic rs758439420 GRCh37 Chromosome 19, 45855609: 45855609
22 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh37 Chromosome 19, 45868091: 45868094
23 ERCC2 NM_000400.3(ERCC2): c.594+2_594+5delTGAG deletion Likely pathogenic rs762309206 GRCh38 Chromosome 19, 45364833: 45364836
24 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh38 Chromosome 19, 45352505: 45352505
25 ERCC2 NM_000400.3(ERCC2): c.2046+1G> T single nucleotide variant Pathogenic rs774768228 GRCh37 Chromosome 19, 45855763: 45855763

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B
2
Show member pathways
12.7 APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5
3
Show member pathways
12.52 APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 OGG1
4 12.39 APEX1 ERCC1 ERCC2 ERCC3 GSTP1 RAD23B
5
Show member pathways
12.05 GSTM1 GSTP1 GSTT1
6 11.99 APEX1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
7 11.87 GSTM1 GSTP1 GSTT1
8
Show member pathways
11.84 ERCC2 ERCC3 GTF2H1 GTF2H5
9
Show member pathways
11.76 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B
10 11.72 ERCC1 GSTM1 GSTP1 GSTT1 XPA
11 11.61 APEX1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
12
Show member pathways
11.6 GSTM1 GSTP1 GSTT1
13
Show member pathways
11.33 APEX1 GSTM1 GSTP1
14
Show member pathways
11.05 ERCC1 GSTP1
15 11.03 GSTM1 GSTP1 GSTT1
16 10.71 GSTP1 GSTT1
17 10.63 ERCC1 ERCC2 ERCC3 GSTM1 GSTP1 GSTT1

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 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5
2 nuclear chromosome, telomeric region GO:0000784 9.62 APEX1 ERCC1 XRCC1 XRCC3
3 transcription factor TFIIH holo complex GO:0005675 9.43 ERCC2 ERCC3 GTF2H1
4 ERCC4-ERCC1 complex GO:0070522 9.4 ERCC1 XRCC1
5 nucleotide-excision repair factor 1 complex GO:0000110 9.37 ERCC1 XPA
6 transcription factor TFIID complex GO:0005669 9.26 ERCC1 ERCC2 ERCC3 GTF2H5
7 transcription factor TFIIH core complex GO:0000439 8.92 ERCC2 ERCC3 GTF2H1 GTF2H5
8 nucleus GO:0005634 10.21 APEX1 ERCC1 ERCC2 ERCC3 GSTP1 GTF2H1

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.96 ERCC1 ERCC2 ERCC3 OGG1 XPA
2 transcription-coupled nucleotide-excision repair GO:0006283 9.95 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
3 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.93 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.91 ERCC2 ERCC3 GTF2H1 GTF2H5
5 nucleotide-excision repair, preincision complex assembly GO:0006294 9.91 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B XPA
6 transcription elongation from RNA polymerase II promoter GO:0006368 9.87 ERCC2 ERCC3 GTF2H1 GTF2H5
7 base-excision repair GO:0006284 9.85 APEX1 OGG1 XPA XRCC1
8 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 XPA
9 aging GO:0007568 9.84 APEX1 ERCC2 OGG1
10 response to hypoxia GO:0001666 9.84 ERCC2 ERCC3 XRCC1
11 7-methylguanosine mRNA capping GO:0006370 9.84 ERCC2 ERCC3 GTF2H1 GTF2H5
12 DNA recombination GO:0006310 9.83 APEX1 ERCC1 XRCC3
13 embryonic organ development GO:0048568 9.83 ERCC1 ERCC2 ERCC3 RAD23B
14 multicellular organism growth GO:0035264 9.82 ERCC1 ERCC2 XPA
15 transcription initiation from RNA polymerase I promoter GO:0006361 9.81 ERCC2 ERCC3 GTF2H1 GTF2H5
16 response to UV GO:0009411 9.8 ERCC2 ERCC3 XPA
17 termination of RNA polymerase I transcription GO:0006363 9.8 ERCC2 ERCC3 GTF2H1 GTF2H5
18 glutathione metabolic process GO:0006749 9.78 GSTM1 GSTP1 GSTT1
19 UV protection GO:0009650 9.78 ERCC1 ERCC2 ERCC3 XPA
20 nucleotide-excision repair GO:0006289 9.76 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 OGG1
21 glutathione derivative biosynthetic process GO:1901687 9.75 GSTM1 GSTP1 GSTT1
22 nucleotide-excision repair, DNA damage recognition GO:0000715 9.66 RAD23B XPA
23 t-circle formation GO:0090656 9.65 ERCC1 XRCC3
24 UV-damage excision repair GO:0070914 9.65 ERCC1 XPA
25 regulation of mitotic cell cycle phase transition GO:1901990 9.64 ERCC2 ERCC3
26 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 9.63 ERCC3 GTF2H1
27 hair cell differentiation GO:0035315 9.63 ERCC2 ERCC3
28 regulation of mitotic recombination GO:0000019 9.62 ERCC2 ERCC3
29 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.6 ERCC1 XRCC1
30 telomeric DNA-containing double minutes formation GO:0061819 9.59 ERCC1 XRCC1
31 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.58 ERCC2 ERCC3
32 global genome nucleotide-excision repair GO:0070911 9.5 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 RAD23B
33 nucleotide-excision repair, DNA incision GO:0033683 9.17 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5 OGG1
34 cellular response to DNA damage stimulus GO:0006974 10.06 APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5
35 DNA repair GO:0006281 10 APEX1 ERCC1 ERCC2 ERCC3 GTF2H1 GTF2H5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.69 ERCC1 ERCC2 ERCC3
2 endonuclease activity GO:0004519 9.54 APEX1 ERCC1 OGG1
3 ATP-dependent DNA helicase activity GO:0004003 9.52 ERCC2 ERCC3
4 glutathione peroxidase activity GO:0004602 9.48 GSTP1 GSTT1
5 glutathione binding GO:0043295 9.43 GSTM1 GSTP1
6 glutathione transferase activity GO:0004364 9.43 GSTM1 GSTP1 GSTT1
7 class I DNA-(apurinic or apyrimidinic site) endonuclease activity GO:0140078 9.4 APEX1 OGG1
8 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 9.33 ERCC2 ERCC3 GTF2H1
9 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.32 ERCC1 XRCC1
10 DNA-dependent ATPase activity GO:0008094 9.26 ERCC2 ERCC3 GTF2H1 XRCC3
11 damaged DNA binding GO:0003684 9.23 APEX1 ERCC1 ERCC2 ERCC3 OGG1 RAD23B
12 protein binding GO:0005515 10.27 APEX1 ERCC1 ERCC2 ERCC3 GSTP1 GSTT1
13 DNA binding GO:0003677 10.04 APEX1 ERCC1 ERCC2 ERCC3 OGG1 XPA

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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