MCID: XRD019
MIFTS: 53

Xeroderma Pigmentosum, Group C

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group C

MalaCards integrated aliases for Xeroderma Pigmentosum, Group C:

Name: Xeroderma Pigmentosum, Group C 54 29 13
Xeroderma Pigmentosum Group C 12 14
Xeroderma Pigmentosum Iii 12 71
Xp Group C 12 71
Xpcc 12 71
Xp3 12 71
Xpc 12 71
Xeroderma Pigmentosum, Complementation Group C 69
Xeroderma Pigmentosum Complementation Group C 71
Xeroderma Pigmentosum, Type 3 50
Xp-C 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

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


Classifications:



Summaries for Xeroderma Pigmentosum, Group C

OMIM : 54
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, Group C, also known as xeroderma pigmentosum group c, is related to xpc-related xeroderma pigmentosum and xeroderma pigmentosum, group a, and has symptoms including entropion, basal cell carcinoma and photophobia. An important gene associated with Xeroderma Pigmentosum, 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 Formation of HIV elongation complex in the absence of HIV Tat. The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and liver, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Xeroderma Pigmentosum, Group C

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

(show all 34)
id Related Disease Score Top Affiliating Genes
1 xpc-related xeroderma pigmentosum 12.0
2 xeroderma pigmentosum, group a 11.5
3 urinary bladder cancer 11.2
4 xeroderma pigmentosum, variant type 11.0
5 exostoses, multiple, type 2 10.3 DDB2 XPC
6 melanoma 10.2
7 lung cancer 10.1
8 cockayne syndrome 10.1
9 3-methylglutaconic aciduria, type i 10.0 XPA XPC
10 hepatocellular carcinoma 10.0
11 breast cancer 10.0
12 hiv-1 10.0
13 basal cell carcinoma 10.0
14 testicular cancer 9.9
15 cockayne syndrome, type a 9.9
16 nasopharyngeal carcinoma 9.9
17 xeroderma pigmentosum, group d 9.9
18 nasopharyngitis 9.9
19 adenocarcinoma 9.9
20 verrucous papilloma 9.8 XPA XPC
21 sugarman brachydactyly 9.6 DDB2 RAD23B XPA XPC
22 lymphoplasmacytic lymphoma 9.6 ERCC2 XPA
23 ceroid storage disease 9.4 ERCC2 ERCC3
24 cerebrooculofacioskeletal syndrome 3 9.3 DDB2 ERCC3 RAD23B XPA
25 mycetoma 9.2 ERCC2 RAD23B XPA XPC
26 xfe progeroid syndrome 9.1 DDB2 ERCC2 RAD23B XPA
27 autosomal genetic disease 9.1 ERCC2 ERCC3 XPA
28 stuttering 9.0 ERCC2 ERCC3 ERCC8
29 cerebrooculofacioskeletal syndrome 2 8.6 ERCC2 ERCC3 RAD23B XPA XPC
30 xeroderma pigmentosum, group b 8.5 ERCC2 ERCC3 GTF2H1 RAD23B XPA
31 3-methylglutaconic aciduria, type iii 8.4 ERCC2 ERCC3 GTF2H1 RAD23B XPA
32 anemia, hemolytic, rh-null, regulator type 7.7 DDB2 ERCC2 ERCC3 ERCC8 RAD23B XPA
33 pleomorphic adenoma carcinoma 7.6 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 XPA
34 myoclonic-atonic epilepsy 6.7 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 MMP1

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



Diseases related to Xeroderma Pigmentosum, Group C

Symptoms & Phenotypes for Xeroderma Pigmentosum, Group C

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
skin atrophy
hypopigmentation
skin photosensitivity
early onset skin cancer (basal cell, squamous cell and malignant melanoma)
early freckle-like lesions in exposed areas
more
Head And Neck- Eyes:
photophobia


Clinical features from OMIM:

278720

Human phenotypes related to Xeroderma Pigmentosum, Group C:

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

UMLS symptoms related to Xeroderma Pigmentosum, Group C:


photophobia

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Group C 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 9.23 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group C:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 DDB2 ERCC2 ERCC3 ERCC8 RAD23B XPA
2 growth/size/body region MP:0005378 9.87 DDB2 ERCC2 ERCC3 ERCC8 RAD23B XPA
3 homeostasis/metabolism MP:0005376 9.8 ERCC2 ERCC3 ERCC8 MMP1 RAD23B XPA
4 integument MP:0010771 9.7 XPC DDB2 ERCC2 ERCC3 ERCC8 RAD23B
5 neoplasm MP:0002006 9.5 DDB2 ERCC2 ERCC3 ERCC8 MMP1 XPA
6 vision/eye MP:0005391 9.1 ERCC2 ERCC3 ERCC8 RAD23B XPA XPC

Drugs & Therapeutics for Xeroderma Pigmentosum, Group C

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

(show all 10)
id 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:


id 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, Group C

Genetic Tests for Xeroderma Pigmentosum, Group C

Genetic tests related to Xeroderma Pigmentosum, Group C:

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

Anatomical Context for Xeroderma Pigmentosum, Group C

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

39
Skin, Lung, Liver

Publications for Xeroderma Pigmentosum, Group C

Articles related to Xeroderma Pigmentosum, Group C:

(show top 50) (show all 63)
id Title Authors Year
1
Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. ( 28233440 )
2017
2
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation. ( 26521083 )
2016
3
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. ( 25651777 )
2015
4
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. ( 26042670 )
2015
5
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. ( 25628365 )
2015
6
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. ( 24218596 )
2013
7
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
8
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. ( 23050045 )
2012
9
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. ( 20649465 )
2011
10
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. ( 19915453 )
2010
11
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. ( 21056989 )
2010
12
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. ( 19686765 )
2010
13
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. ( 20054342 )
2010
14
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. ( 19609301 )
2009
15
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. ( 18469853 )
2008
16
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. ( 18987743 )
2008
17
[Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. ( 18785488 )
2008
18
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. ( 18717677 )
2008
19
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. ( 17882560 )
2008
20
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. ( 17897675 )
2007
21
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. ( 17325666 )
2007
22
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. ( 17693435 )
2007
23
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. ( 17510383 )
2007
24
Xeroderma pigmentosum group C in an isolated region of Guatemala. ( 16990803 )
2007
25
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. ( 17573042 )
2007
26
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
27
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. ( 16533048 )
2006
28
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. ( 15654957 )
2005
29
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. ( 15964821 )
2005
30
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. ( 15744458 )
2005
31
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. ( 15731165 )
2005
32
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. ( 15494739 )
2005
33
Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. ( 15336624 )
2004
34
Genetic correction of DNA repair-deficient/cancer-prone xeroderma pigmentosum group C keratinocytes. ( 12869216 )
2003
35
Xeroderma pigmentosum group C protein possesses a high affinity binding site to human centrin 2 and calmodulin. ( 12890685 )
2003
36
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. ( 12815074 )
2003
37
Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. ( 12505994 )
2003
38
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
39
Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient. ( 12485439 )
2002
40
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. ( 12242345 )
2002
41
Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. ( 12485438 )
2002
42
A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. ( 12509299 )
2002
43
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. ( 11279143 )
2001
44
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. ( 11511294 )
2001
45
The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts. ( 10681431 )
2000
46
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. ( 11023539 )
2000
47
The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA. ( 10734143 )
2000
48
Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53-/- mice. ( 10029060 )
1999
49
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. ( 9734359 )
1998
50
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. ( 9804340 )
1998

Variations for Xeroderma Pigmentosum, Group C

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

71
id 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, Group C:

6 (show all 14)
id 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.621_622ins83 (p.?) insertion Pathogenic
3 XPC XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN insertion Pathogenic
4 XPC NM_004628.4(XPC): c.1292_1293delAA (p.Lys431Argfs) deletion Pathogenic rs794729654 GRCh37 Chromosome 3, 14200090: 14200091
5 XPC NM_004628.4(XPC): c.2033+2T> G single nucleotide variant Pathogenic rs794729655 GRCh37 Chromosome 3, 14197833: 14197833
6 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh37 Chromosome 3, 14208723: 14208724
7 XPC NM_004628.4(XPC): c.1735C> T (p.Arg579Ter) single nucleotide variant Pathogenic rs121965088 GRCh37 Chromosome 3, 14199648: 14199648
8 XPC NM_004628.4(XPC): c.413-9T> A single nucleotide variant Pathogenic rs794729656 GRCh37 Chromosome 3, 14209889: 14209889
9 XPC NM_004628.4(XPC): c.413-24A> G single nucleotide variant Pathogenic rs794729657 GRCh37 Chromosome 3, 14209904: 14209904
10 XPC NM_004628.4(XPC): c.1643_1644delTG (p.Val548Alafs) deletion Pathogenic rs754532049 GRCh37 Chromosome 3, 14199739: 14199740
11 XPC NM_004628.4(XPC): c.2262delC (p.Asn754Lysfs) deletion Pathogenic rs786205206 GRCh38 Chromosome 3, 14148720: 14148720
12 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh37 Chromosome 3, 14190232: 14190232
13 XPC NM_004628.4(XPC): c.1677C> A (p.Tyr559Ter) single nucleotide variant Pathogenic rs767569346 GRCh37 Chromosome 3, 14199706: 14199706
14 XPC NM_004628.4(XPC): c.622-2A> C single nucleotide variant Pathogenic rs201940931 GRCh38 Chromosome 3, 14165587: 14165587

Expression for Xeroderma Pigmentosum, Group C

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

Pathways for Xeroderma Pigmentosum, Group C

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B
2
Show member pathways
12.76 DDB2 ERCC2 ERCC3 GTF2H1
3
Show member pathways
12.58 DDB2 ERCC2 ERCC3 GTF2H1
4
Show member pathways
12.31 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B XPA
5
Show member pathways
12.29 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B
6 12.26 DDB2 ERCC2 ERCC3 RAD23B XPA XPC
7
Show member pathways
12.03 ERCC2 ERCC3 GTF2H1
8 11.85 ERCC2 ERCC3 GTF2H1 XPA XPC
9
Show member pathways
11.65 ERCC2 ERCC3 GTF2H1
10
Show member pathways
11.29 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B
11 11.04 ERCC2 ERCC3 XPA

GO Terms for Xeroderma Pigmentosum, Group C

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.86 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B
2 transcription factor TFIID complex GO:0005669 9.37 ERCC2 ERCC3
3 XPC complex GO:0071942 9.16 RAD23B XPC
4 holo TFIIH complex GO:0005675 9.13 ERCC2 ERCC3 GTF2H1
5 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.02 DDB2
6 core TFIIH complex GO:0000439 8.8 ERCC2 ERCC3 GTF2H1
7 nucleus GO:0005634 10.01 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.92 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B
2 transcription-coupled nucleotide-excision repair GO:0006283 9.91 ERCC2 ERCC3 ERCC8 GTF2H1 XPA
3 response to UV GO:0009411 9.89 DDB2 ERCC2 ERCC3 ERCC8 XPA
4 response to oxidative stress GO:0006979 9.88 ERCC2 ERCC3 ERCC8 XPA
5 nucleotide-excision repair, DNA incision GO:0033683 9.88 DDB2 ERCC2 ERCC3 GTF2H1 XPA
6 nucleotide-excision repair GO:0006289 9.86 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B
7 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.85 DDB2 ERCC2 ERCC3 GTF2H1 XPA
8 nucleotide-excision repair, DNA damage recognition GO:0000715 9.83 DDB2 RAD23B XPA XPC
9 transcription initiation from RNA polymerase II promoter GO:0006367 9.8 ERCC2 ERCC3 GTF2H1
10 transcription elongation from RNA polymerase II promoter GO:0006368 9.8 ERCC2 ERCC3 GTF2H1
11 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.8 DDB2 ERCC2 ERCC3 GTF2H1 XPA
12 embryonic organ development GO:0048568 9.79 ERCC2 ERCC3 RAD23B
13 transcription initiation from RNA polymerase I promoter GO:0006361 9.78 ERCC2 ERCC3 GTF2H1
14 7-methylguanosine mRNA capping GO:0006370 9.77 ERCC2 ERCC3 GTF2H1
15 transcription elongation from RNA polymerase I promoter GO:0006362 9.77 ERCC2 ERCC3 GTF2H1
16 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.77 DDB2 ERCC2 ERCC3 GTF2H1 XPA
17 termination of RNA polymerase I transcription GO:0006363 9.76 ERCC2 ERCC3 GTF2H1
18 UV protection GO:0009650 9.74 ERCC2 ERCC3 XPA
19 UV-damage excision repair GO:0070914 9.72 DDB2 XPA XPC
20 regulation of mitotic cell cycle phase transition GO:1901990 9.71 ERCC2 ERCC3 XPC
21 global genome nucleotide-excision repair GO:0070911 9.7 DDB2 ERCC2 ERCC3 GTF2H1 RAD23B XPA
22 protein autoubiquitination GO:0051865 9.63 DDB2 ERCC8
23 hair cell differentiation GO:0035315 9.62 ERCC2 ERCC3
24 response to auditory stimulus GO:0010996 9.56 XPA XPC
25 nucleotide-excision repair, preincision complex assembly GO:0006294 9.5 DDB2 ERCC2 ERCC3 GTF2H1 RAD23B XPA
26 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.17 DDB2 ERCC2 ERCC3 GTF2H1 RAD23B XPA
27 cellular response to DNA damage stimulus GO:0006974 10.03 DDB2 ERCC2 ERCC3 ERCC8 GTF2H1 RAD23B

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.33 ERCC2 ERCC3 GTF2H1
2 ATP-dependent DNA helicase activity GO:0004003 9.26 ERCC2 ERCC3
3 DNA-dependent ATPase activity GO:0008094 9.26 ERCC2 ERCC3 ERCC8 GTF2H1
4 damaged DNA binding GO:0003684 9.02 DDB2 ERCC3 RAD23B XPA XPC

Sources for Xeroderma Pigmentosum, Group C

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
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