MCID: XRD030
MIFTS: 53

Xeroderma Pigmentosum, Complementation Group C

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Complementation Group C

MalaCards integrated aliases for Xeroderma Pigmentosum, Complementation Group C:

Name: Xeroderma Pigmentosum, Complementation Group C 57 40 73
Xeroderma Pigmentosum, Group C 57 29 13 6
Xeroderma Pigmentosum Iii 57 12 75
Xpcc 57 12 75
Xpc 57 12 75
Xp3 57 12 75
Xeroderma Pigmentosum Group C 12 15
Xeroderma Pigmentosum, Type 3 76 53
Xp Group C 12 75
Xeroderma Pigmentosum Complementation Group C 75
Xeroderma Pigmentosum Iii; Xp3 57
Xp, Group C 57
Xp-C 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
xeroderma pigmentosum, complementation group c:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Complementation Group C

OMIM : 57 Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993). For a general discussion of xeroderma pigmentosum, see XPA (278700). (278720)

MalaCards based summary : Xeroderma Pigmentosum, Complementation Group C, also known as xeroderma pigmentosum, group c, is related to xeroderma pigmentosum, variant type and breast cancer, and has symptoms including photophobia An important gene associated with Xeroderma Pigmentosum, Complementation Group C is XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and lung, and related phenotypes are photophobia and keratitis

UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum complementation group C: 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.

Disease Ontology : 12 A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has material basis in mutation in the XPC gene on chromosome 3p25.

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group C

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



Diseases related to Xeroderma Pigmentosum, Complementation Group C

Symptoms & Phenotypes for Xeroderma Pigmentosum, Complementation Group C

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia

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

Clinical features from OMIM:

278720

Human phenotypes related to Xeroderma Pigmentosum, Complementation Group C:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 keratitis 32 HP:0000491
3 conjunctivitis 32 HP:0000509
4 cutaneous photosensitivity 32 HP:0000992
5 ectropion 32 HP:0000656
6 cutaneous melanoma 32 HP:0012056
7 squamous cell carcinoma of the skin 32 HP:0006739
8 hypopigmentation of the skin 32 HP:0001010
9 telangiectasia 32 HP:0001009
10 poikiloderma 32 HP:0001029
11 entropion 32 HP:0000621
12 dermal atrophy 32 HP:0004334
13 basal cell carcinoma 32 HP:0002671
14 defective dna repair after ultraviolet radiation damage 32 HP:0003079

UMLS symptoms related to Xeroderma Pigmentosum, Complementation Group C:


photophobia

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Complementation Group C 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 9.5 CETN2 DDB2 ERCC3 RAD23B RECQL XPA
2 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 RAD23B UBA2 XPC

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 CETN2 DDB2 ERCC3 RAD23B RECQL XPA
2 growth/size/body region MP:0005378 9.73 DDB2 ERCC3 RAD23B XPA XPC CETN2
3 craniofacial MP:0005382 9.62 CETN2 ERCC3 RAD23B XPA
4 integument MP:0010771 9.55 DDB2 ERCC3 RAD23B XPA XPC
5 neoplasm MP:0002006 9.26 DDB2 ERCC3 XPA XPC
6 vision/eye MP:0005391 9.02 CETN2 ERCC3 RAD23B XPA XPC

Drugs & Therapeutics for Xeroderma Pigmentosum, Complementation Group C

Drugs for Xeroderma Pigmentosum, Complementation Group C (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 2,Phase 1 28860-95-9 34359 38101
2
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 2,Phase 1 59-92-7 6047
4 Adjuvants, Immunologic Phase 2,Phase 1
5 Antiparkinson Agents Phase 2,Phase 1
6 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2,Phase 1
7 Carbidopa, levodopa drug combination Phase 2,Phase 1
8 Dopamine Agents Phase 2,Phase 1
9 Dopamine agonists Phase 2,Phase 1
10 Neurotransmitter Agents Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Efficacy, Safety and Pharmacokinetic Study of XP21279 and Sinemet® in Parkinson's Disease Subjects Completed NCT01171313 Phase 2 XP21279 and carbidopa (experimental);Sinemet (comparator);Placebo for XP21279 and carbidopa;Placebo for Sinemet
2 An Exploratory Study of XP21279 (With Lodosyn®) and Sinemet® in Parkinson's Disease Subjects Completed NCT00914602 Phase 1, Phase 2 XP21279;Sinemet®;Lodosyn®

Search NIH Clinical Center for Xeroderma Pigmentosum, Complementation Group C

Genetic Tests for Xeroderma Pigmentosum, Complementation Group C

Genetic tests related to Xeroderma Pigmentosum, Complementation Group C:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group C 29 XPC

Anatomical Context for Xeroderma Pigmentosum, Complementation Group C

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

41
Skin, Brain, Lung, Liver

Publications for Xeroderma Pigmentosum, Complementation Group C

Articles related to Xeroderma Pigmentosum, Complementation Group C:

(show top 50) (show all 78)
# Title Authors Year
1
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
2
Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. ( 28233440 )
2017
3
Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant. ( 28669926 )
2017
4
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation. ( 26521083 )
2016
5
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. ( 25651777 )
2015
6
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. ( 25628365 )
2015
7
Xeroderma pigmentosum complementation group C protein (XPC) expression in basal cell carcinoma. ( 25600527 )
2015
8
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. ( 26042670 )
2015
9
Binding of HIV-1 Vpr protein to the human homolog of the yeast DNA repair protein RAD23 (hHR23A) requires its xeroderma pigmentosum complementation group C binding (XPCB) domain as well as the ubiquitin-associated 2 (UBA2) domain. ( 24318982 )
2014
10
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. ( 23889214 )
2013
11
Xeroderma pigmentosum complementation group C protein (XPC) serves as a general sensor of damaged DNA. ( 24051049 )
2013
12
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. ( 24218596 )
2013
13
Xeroderma pigmentosum complementation group C single-nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression-free survival in advanced ovarian cancer. ( 21751198 )
2012
14
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. ( 23050045 )
2012
15
Hydrogen/Deuterium Exchange Reflects Binding of Human Centrin 2 to Ca(2+) and Xeroderma Pigmentosum Group C Peptide: An Example of EX1 Kinetics. ( 23439742 )
2012
16
Expression of xeroderma pigmentosum complementation group C protein predicts cisplatin resistance in lung adenocarcinoma patients. ( 21327329 )
2011
17
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. ( 20649465 )
2011
18
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. ( 21056989 )
2010
19
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. ( 19915453 )
2010
20
Polymorphism in xeroderma pigmentosum complementation group C codon 939 and aflatoxin B1-related hepatocellular carcinoma in the Guangxi population. ( 20658464 )
2010
21
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. ( 20054342 )
2010
22
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. ( 19686765 )
2010
23
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. ( 19609301 )
2009
24
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. ( 18987743 )
2008
25
The carboxy-terminal domain of xeroderma pigmentosum complementation group C protein, involved in TFIIH and centrin binding, is highly disordered. ( 18177054 )
2008
26
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. ( 18469853 )
2008
27
[Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. ( 18785488 )
2008
28
Xeroderma pigmentosum complementation group C genotypes/diplotypes play no independent or interaction role with polycyclic aromatic hydrocarbons-DNA adducts for breast cancer risk. ( 18053706 )
2008
29
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. ( 18717677 )
2008
30
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. ( 17882560 )
2008
31
Xeroderma pigmentosum group C in an isolated region of Guatemala. ( 16990803 )
2007
32
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. ( 17897675 )
2007
33
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. ( 17510383 )
2007
34
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. ( 17573042 )
2007
35
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. ( 17693435 )
2007
36
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. ( 17325666 )
2007
37
Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. ( 17154534 )
2006
38
The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. ( 16793369 )
2006
39
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. ( 16533048 )
2006
40
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. ( 15494739 )
2005
41
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. ( 15964821 )
2005
42
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. ( 15731165 )
2005
43
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. ( 15744458 )
2005
44
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. ( 15654957 )
2005
45
Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. ( 15336624 )
2004
46
Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. ( 12505994 )
2003
47
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. ( 12815074 )
2003
48
Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. ( 12890685 )
2003
49
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
50
Genetic correction of DNA repair-deficient/cancer-prone xeroderma pigmentosum group C keratinocytes. ( 12869216 )
2003

Variations for Xeroderma Pigmentosum, Complementation Group C

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

75
# Symbol AA change Variation ID SNP ID
1 XPC p.Pro334His VAR_005846 rs74737358
2 XPC p.Trp690Ser VAR_064039

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

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 XPC NM_004628.4(XPC): c.1001C> A (p.Pro334His) single nucleotide variant Pathogenic rs74737358 GRCh37 Chromosome 3, 14200382: 14200382
2 XPC NM_004628.4(XPC): c.1001C> A (p.Pro334His) single nucleotide variant Pathogenic rs74737358 GRCh38 Chromosome 3, 14158882: 14158882
3 XPC NM_004628.4(XPC): c.621_622ins83 (p.?) insertion Pathogenic
4 XPC XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN insertion Pathogenic
5 XPC NM_004628.4(XPC): c.1292_1293delAA (p.Lys431Argfs) deletion Pathogenic rs794729654 GRCh37 Chromosome 3, 14200090: 14200091
6 XPC NM_004628.4(XPC): c.1292_1293delAA (p.Lys431Argfs) deletion Pathogenic rs794729654 GRCh38 Chromosome 3, 14158590: 14158591
7 XPC NM_004628.4(XPC): c.2033+2T> G single nucleotide variant Pathogenic rs794729655 GRCh37 Chromosome 3, 14197833: 14197833
8 XPC NM_004628.4(XPC): c.2033+2T> G single nucleotide variant Pathogenic rs794729655 GRCh38 Chromosome 3, 14156333: 14156333
9 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh37 Chromosome 3, 14208723: 14208724
10 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh38 Chromosome 3, 14167223: 14167224
11 XPC NM_004628.4(XPC): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic rs121965088 GRCh37 Chromosome 3, 14199648: 14199648
12 XPC NM_004628.4(XPC): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic rs121965088 GRCh38 Chromosome 3, 14158148: 14158148
13 XPC NM_004628.4(XPC): c.413-9T> A single nucleotide variant Pathogenic rs794729656 GRCh37 Chromosome 3, 14209889: 14209889
14 XPC NM_004628.4(XPC): c.413-9T> A single nucleotide variant Pathogenic rs794729656 GRCh38 Chromosome 3, 14168389: 14168389
15 XPC NM_004628.4(XPC): c.413-24A> G single nucleotide variant Pathogenic rs794729657 GRCh37 Chromosome 3, 14209904: 14209904
16 XPC NM_004628.4(XPC): c.413-24A> G single nucleotide variant Pathogenic rs794729657 GRCh38 Chromosome 3, 14168404: 14168404
17 XPC NM_004628.4(XPC): c.1643_1644delTG (p.Val548Alafs) deletion Pathogenic rs754532049 GRCh37 Chromosome 3, 14199739: 14199740
18 XPC NM_004628.4(XPC): c.1643_1644delTG (p.Val548Alafs) deletion Pathogenic rs754532049 GRCh38 Chromosome 3, 14158239: 14158240
19 XPC NM_004628.4(XPC): c.2262delC (p.Asn754Lysfs) deletion Pathogenic rs786205206 GRCh38 Chromosome 3, 14148720: 14148720
20 XPC NM_004628.4(XPC): c.2262delC (p.Asn754Lysfs) deletion Pathogenic rs786205206 GRCh37 Chromosome 3, 14190220: 14190220
21 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh37 Chromosome 3, 14190232: 14190232
22 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh38 Chromosome 3, 14148732: 14148732
23 XPC NM_004628.4(XPC): c.1677C> A (p.Tyr559Ter) single nucleotide variant Pathogenic rs767569346 GRCh38 Chromosome 3, 14158206: 14158206
24 XPC NM_004628.4(XPC): c.1677C> A (p.Tyr559Ter) single nucleotide variant Pathogenic rs767569346 GRCh37 Chromosome 3, 14199706: 14199706
25 XPC NM_004628.4(XPC): c.622-2A> C single nucleotide variant Pathogenic rs201940931 GRCh38 Chromosome 3, 14165587: 14165587
26 XPC NM_004628.4(XPC): c.622-2A> C single nucleotide variant Pathogenic rs201940931 GRCh37 Chromosome 3, 14207087: 14207087
27 XPC NM_004628.4(XPC): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs757958943 GRCh38 Chromosome 3, 14158640: 14158640
28 XPC NM_004628.4(XPC): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs757958943 GRCh37 Chromosome 3, 14200140: 14200140

Expression for Xeroderma Pigmentosum, Complementation Group C

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

Pathways for Xeroderma Pigmentosum, Complementation Group C

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 CETN2 DDB2 ERCC3 RAD23B XPA XPC
2
Show member pathways
12.37 CETN2 DDB2 ERCC3 RAD23B XPA XPC
3
Show member pathways
12.23 ERCC3 RAD23B XPA XPC
4
Show member pathways
12.14 CETN2 UBA2 XPC
5 11.9 DDB2 ERCC3 RAD23B RECQL XPA XPC
6 11.63 ERCC3 XPA XPC
7
Show member pathways
11.16 CETN2 DDB2 ERCC3 RAD23B XPA XPC
8 10.87 ERCC3 XPA

GO Terms for Xeroderma Pigmentosum, Complementation Group C

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 CETN2 DDB2 ERCC3 RAD23B RECQL UBA2
2 nucleoplasm GO:0005654 9.56 CETN2 DDB2 ERCC3 RAD23B RECQL UBA2
3 XPC complex GO:0071942 8.8 CETN2 RAD23B XPC

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.91 CETN2 DDB2 ERCC3 RAD23B RECQL XPA
2 cellular response to DNA damage stimulus GO:0006974 9.88 CETN2 DDB2 ERCC3 RAD23B XPA XPC
3 nucleotide-excision repair GO:0006289 9.73 CETN2 DDB2 ERCC3 RAD23B XPA XPC
4 nucleotide-excision repair, DNA damage recognition GO:0000715 9.72 CETN2 DDB2 RAD23B XPA XPC
5 response to UV GO:0009411 9.7 DDB2 ERCC3 XPA
6 nucleotide-excision repair, DNA incision GO:0033683 9.69 DDB2 ERCC3 XPA
7 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.67 DDB2 ERCC3 XPA
8 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.65 DDB2 ERCC3 XPA
9 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.63 DDB2 ERCC3 XPA
10 nucleotide-excision repair, preincision complex assembly GO:0006294 9.63 CETN2 DDB2 ERCC3 RAD23B XPA XPC
11 UV-damage excision repair GO:0070914 9.61 DDB2 XPA XPC
12 transcription-coupled nucleotide-excision repair GO:0006283 9.58 ERCC3 XPA
13 embryonic organ development GO:0048568 9.57 ERCC3 RAD23B
14 UV protection GO:0009650 9.56 ERCC3 XPA
15 response to auditory stimulus GO:0010996 9.55 XPA XPC
16 regulation of mitotic cell cycle phase transition GO:1901990 9.54 ERCC3 XPC
17 global genome nucleotide-excision repair GO:0070911 9.43 CETN2 DDB2 ERCC3 RAD23B XPA XPC
18 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.1 CETN2 DDB2 ERCC3 RAD23B XPA XPC

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 DDB2 ERCC3 RECQL XPA XPC
2 single-stranded DNA binding GO:0003697 9.26 RAD23B XPC
3 damaged DNA binding GO:0003684 9.02 DDB2 ERCC3 RAD23B XPA XPC
4 ATP-dependent DNA helicase activity GO:0004003 8.96 ERCC3 RECQL

Sources for Xeroderma Pigmentosum, Complementation Group C

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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