XP-C
MCID: XRD030
MIFTS: 52

Xeroderma Pigmentosum, Complementation Group C (XP-C)

Categories: Cancer diseases, Genetic diseases, Neuronal 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 skin benign neoplasm and mutagen sensitivity, 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 Levodopa 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

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.

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.

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder (autosomal recessive) in which there is a decreased... more...

Related Diseases for Xeroderma Pigmentosum, Complementation Group C

Diseases in the Xeroderma Pigmentosum, Complementation Group a family:

Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group B

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 skin benign neoplasm 31.7 XPA XPC
2 mutagen sensitivity 31.6 RAD23B XPA XPC
3 xeroderma pigmentosum, complementation group e 31.5 DDB2 XPA XPC
4 xeroderma pigmentosum group e 31.5 DDB2 RAD23B XPA XPC
5 cockayne syndrome 31.4 DDB2 ERCC3 XPA XPC
6 xeroderma pigmentosum, variant type 29.9 CETN2 DDB2 ERCC3 RAD23B RECQL XPA
7 multiple cranial nerve palsy 11.2
8 xeroderma pigmentosum, complementation group a 11.1
9 bladder cancer 10.4
10 squamous cell carcinoma 10.4
11 melanoma 10.3
12 colorectal cancer 10.3
13 breast cancer 10.2
14 hepatocellular carcinoma 10.2
15 ovarian cancer 10.2
16 lung cancer 10.2
17 squamous cell carcinoma, head and neck 10.2
18 basal cell carcinoma 1 10.2
19 lung cancer susceptibility 3 10.2
20 basal cell carcinoma 10.2
21 adenocarcinoma 10.2
22 lung squamous cell carcinoma 10.2
23 prostate cancer 10.2
24 autism 10.1
25 cockayne syndrome a 10.1
26 nasopharyngeal carcinoma 10.1
27 ovarian cancer 1 10.1
28 testicular cancer 10.1
29 cockayne syndrome type i 10.1
30 small cell cancer of the lung 10.1
31 skin melanoma 10.1
32 lung cancer susceptibility 1 10.1
33 gastric cancer 10.1
34 leukemia, acute myeloid 10.0
35 cataract 10.0
36 leukemia 10.0
37 myeloid leukemia 10.0
38 trichothiodystrophy 1, photosensitive 9.9 ERCC3 XPA
39 xeroderma pigmentosum, complementation group f 9.8 DDB2 RAD23B XPA
40 huntington disease 9.8
41 retinoblastoma 9.8
42 neuroblastoma 9.8
43 pancreatic cancer 9.8
44 de sanctis-cacchione syndrome 9.8
45 aging 9.8
46 helicobacter pylori infection 9.8
47 cervical cancer 9.8
48 pulmonary disease, chronic obstructive 9.8
49 leukemia, acute lymphoblastic 9.8
50 male infertility 9.8

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 CETN2 DDB2 ERCC3 RAD23B XPA XPC
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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 2,Phase 1 59-92-7 6047
2
Dopamine Approved Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Carbidopa Approved Phase 2,Phase 1 28860-95-9 34359 38101
4 Carbidopa, levodopa drug combination Phase 2,Phase 1
5 Neurotransmitter Agents Phase 2,Phase 1
6 Adjuvants, Immunologic Phase 2,Phase 1
7 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2,Phase 1
8 Immunologic Factors Phase 2,Phase 1
9 Dopamine Agents Phase 2,Phase 1
10 Dopamine agonists Phase 2,Phase 1
11 Antiparkinson 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, Prostate, Myeloid

Publications for Xeroderma Pigmentosum, Complementation Group C

Articles related to Xeroderma Pigmentosum, Complementation Group C:

(show top 50) (show all 92)
# 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
Astaxanthin enhances erlotinib-induced cytotoxicity by p38 MAPK mediated xeroderma pigmentosum complementation group C (XPC) down-regulation in human lung cancer cells. ( 30555679 )
2018
3
Interaction of polymorphisms in xeroderma pigmentosum group C with cigarette smoking and pancreatic cancer risk. ( 30344718 )
2018
4
Novel compound heterozygous variants in the XPC gene identified in a Chinese xeroderma pigmentosum group C patient with ovarian teratoma. ( 29696685 )
2018
5
Xeroderma Pigmentosum Group C Deficiency Alters Cigarette Smoke DNA Damage Cell Fate and Accelerates Emphysema Development. ( 29111769 )
2018
6
A case of xeroderma pigmentosum complementation group C with diverse clinical features. ( 29330851 )
2018
7
Japanese case of xeroderma pigmentosum complementation group C with a novel mutation. ( 29356054 )
2018
8
Overexpression of xeroderma pigmentosum group C decreases the chemotherapeutic sensitivity of colorectal carcinoma cells to cisplatin. ( 29616110 )
2018
9
Phosphorylation of xeroderma pigmentosum group C regulates ultraviolet-induced DNA damage repair. ( 29660033 )
2018
10
Modulation of risk of squamous cell carcinoma head and neck in North Indian population with polymorphisms in xeroderma pigmentosum complementation Group C gene. ( 29893334 )
2018
11
Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. ( 28233440 )
2017
12
Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant. ( 28669926 )
2017
13
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation. ( 26521083 )
2016
14
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. ( 25651777 )
2015
15
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. ( 25628365 )
2015
16
Xeroderma pigmentosum complementation group C protein (XPC) expression in basal cell carcinoma. ( 25600527 )
2015
17
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. ( 26042670 )
2015
18
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
19
Xeroderma pigmentosum complementation group C protein (XPC) serves as a general sensor of damaged DNA. ( 24051049 )
2013
20
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. ( 24218596 )
2013
21
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
22
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. ( 23050045 )
2012
23
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
24
Expression of xeroderma pigmentosum complementation group C protein predicts cisplatin resistance in lung adenocarcinoma patients. ( 21327329 )
2011
25
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. ( 20649465 )
2011
26
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. ( 21056989 )
2010
27
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. ( 19915453 )
2010
28
Polymorphism in xeroderma pigmentosum complementation group C codon 939 and aflatoxin B1-related hepatocellular carcinoma in the Guangxi population. ( 20658464 )
2010
29
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. ( 20054342 )
2010
30
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. ( 19686765 )
2010
31
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein. ( 19609301 )
2009
32
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. ( 18987743 )
2008
33
The carboxy-terminal domain of xeroderma pigmentosum complementation group C protein, involved in TFIIH and centrin binding, is highly disordered. ( 18177054 )
2008
34
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. ( 18469853 )
2008
35
[Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. ( 18785488 )
2008
36
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
37
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. ( 18717677 )
2008
38
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. ( 17882560 )
2008
39
Xeroderma pigmentosum group C in an isolated region of Guatemala. ( 16990803 )
2007
40
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. ( 17897675 )
2007
41
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. ( 17510383 )
2007
42
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. ( 17573042 )
2007
43
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. ( 17693435 )
2007
44
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. ( 17325666 )
2007
45
The structure of the human centrin 2-xeroderma pigmentosum group C protein complex. ( 16627479 )
2006
46
Biochemical and structural domain analysis of xeroderma pigmentosum complementation group C protein. ( 17154534 )
2006
47
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
48
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. ( 16533048 )
2006
49
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. ( 15494739 )
2005
50
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. ( 15964821 )
2005

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 top 50) (show all 194)
# 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.52A> C (p.Ser18Arg) single nucleotide variant Uncertain significance rs587778757 GRCh37 Chromosome 3, 14220017: 14220017
20 XPC NM_004628.4(XPC): c.52A> C (p.Ser18Arg) single nucleotide variant Uncertain significance rs587778757 GRCh38 Chromosome 3, 14178517: 14178517
21 XPC NM_004628.4(XPC): c.2537G> C (p.Gly846Ala) single nucleotide variant Uncertain significance rs55779831 GRCh37 Chromosome 3, 14188857: 14188857
22 XPC NM_004628.4(XPC): c.2537G> C (p.Gly846Ala) single nucleotide variant Uncertain significance rs55779831 GRCh38 Chromosome 3, 14147357: 14147357
23 XPC NM_004628.4(XPC): c.2621C> T (p.Pro874Leu) single nucleotide variant Uncertain significance rs375859472 GRCh37 Chromosome 3, 14187643: 14187643
24 XPC NM_004628.4(XPC): c.2621C> T (p.Pro874Leu) single nucleotide variant Uncertain significance rs375859472 GRCh38 Chromosome 3, 14146143: 14146143
25 XPC NM_004628.4(XPC): c.2633C> G (p.Ala878Gly) single nucleotide variant Uncertain significance rs183167499 GRCh37 Chromosome 3, 14187631: 14187631
26 XPC NM_004628.4(XPC): c.2633C> G (p.Ala878Gly) single nucleotide variant Uncertain significance rs183167499 GRCh38 Chromosome 3, 14146131: 14146131
27 XPC NM_004628.4(XPC): c.597A> C (p.Lys199Asn) single nucleotide variant Uncertain significance rs587778759 GRCh38 Chromosome 3, 14167193: 14167193
28 XPC NM_004628.4(XPC): c.597A> C (p.Lys199Asn) single nucleotide variant Uncertain significance rs587778759 GRCh37 Chromosome 3, 14208693: 14208693
29 XPC NM_004628.4(XPC): c.755A> G (p.Tyr252Cys) single nucleotide variant Uncertain significance rs587778760 GRCh38 Chromosome 3, 14165452: 14165452
30 XPC NM_004628.4(XPC): c.755A> G (p.Tyr252Cys) single nucleotide variant Uncertain significance rs587778760 GRCh37 Chromosome 3, 14206952: 14206952
31 XPC NM_004628.4(XPC): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs552222088 GRCh38 Chromosome 3, 14165489: 14165489
32 XPC NM_004628.4(XPC): c.718C> T (p.Arg240Cys) single nucleotide variant Uncertain significance rs552222088 GRCh37 Chromosome 3, 14206989: 14206989
33 XPC NM_004628.4(XPC): c.736C> T (p.Pro246Ser) single nucleotide variant Uncertain significance rs587778761 GRCh38 Chromosome 3, 14165471: 14165471
34 XPC NM_004628.4(XPC): c.736C> T (p.Pro246Ser) single nucleotide variant Uncertain significance rs587778761 GRCh37 Chromosome 3, 14206971: 14206971
35 XPC NM_004628.4(XPC): c.1229A> G (p.Glu410Gly) single nucleotide variant Uncertain significance rs587778762 GRCh38 Chromosome 3, 14158654: 14158654
36 XPC NM_004628.4(XPC): c.1229A> G (p.Glu410Gly) single nucleotide variant Uncertain significance rs587778762 GRCh37 Chromosome 3, 14200154: 14200154
37 XPC NM_004628.4(XPC): c.478G> T (p.Val160Leu) single nucleotide variant Uncertain significance rs587778763 GRCh38 Chromosome 3, 14168315: 14168315
38 XPC NM_004628.4(XPC): c.478G> T (p.Val160Leu) single nucleotide variant Uncertain significance rs587778763 GRCh37 Chromosome 3, 14209815: 14209815
39 XPC NM_004628.4(XPC): c.2262delC (p.Asn754Lysfs) deletion Pathogenic rs786205206 GRCh38 Chromosome 3, 14148720: 14148720
40 XPC NM_004628.4(XPC): c.2262delC (p.Asn754Lysfs) deletion Pathogenic rs786205206 GRCh37 Chromosome 3, 14190220: 14190220
41 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh37 Chromosome 3, 14190232: 14190232
42 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh38 Chromosome 3, 14148732: 14148732
43 XPC NM_004628.4(XPC): c.1677C> A (p.Tyr559Ter) single nucleotide variant Pathogenic rs767569346 GRCh37 Chromosome 3, 14199706: 14199706
44 XPC NM_004628.4(XPC): c.1677C> A (p.Tyr559Ter) single nucleotide variant Pathogenic rs767569346 GRCh38 Chromosome 3, 14158206: 14158206
45 XPC NM_004628.4(XPC): c.622-2A> C single nucleotide variant Pathogenic rs201940931 GRCh38 Chromosome 3, 14165587: 14165587
46 XPC NM_004628.4(XPC): c.622-2A> C single nucleotide variant Pathogenic rs201940931 GRCh37 Chromosome 3, 14207087: 14207087
47 XPC NM_004628.4(XPC): c.2033+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs753195190 GRCh37 Chromosome 3, 14197831: 14197831
48 XPC NM_004628.4(XPC): c.2033+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs753195190 GRCh38 Chromosome 3, 14156331: 14156331
49 XPC NM_004628.4(XPC): c.1103_1104delAA (p.Gln368Argfs) deletion Pathogenic GRCh37 Chromosome 3, 14200279: 14200280
50 XPC NM_004628.4(XPC): c.1103_1104delAA (p.Gln368Argfs) deletion Pathogenic GRCh38 Chromosome 3, 14158779: 14158780

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
12.17 CETN2 UBA2 XPC
5 11.9 DDB2 ERCC3 RAD23B RECQL XPA XPC
6 11.66 ERCC3 XPA XPC
7 11.28 ERCC3 XPA XPC
8
Show member pathways
11.16 CETN2 DDB2 ERCC3 RAD23B XPA XPC
9 10.9 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 9.87 CETN2 DDB2 ERCC3 RAD23B RECQL XPA
2 cellular response to DNA damage stimulus GO:0006974 9.85 CETN2 DDB2 ERCC3 RAD23B XPA XPC
3 response to UV GO:0009411 9.67 DDB2 ERCC3 XPA
4 nucleotide-excision repair, DNA incision GO:0033683 9.65 DDB2 ERCC3 XPA
5 nucleotide-excision repair, DNA damage recognition GO:0000715 9.65 CETN2 DDB2 RAD23B XPA XPC
6 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.63 DDB2 ERCC3 XPA
7 nucleotide-excision repair GO:0006289 9.63 CETN2 DDB2 ERCC3 RAD23B XPA XPC
8 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.61 DDB2 ERCC3 XPA
9 transcription-coupled nucleotide-excision repair GO:0006283 9.58 ERCC3 XPA
10 UV-damage excision repair GO:0070914 9.58 DDB2 XPA XPC
11 DNA duplex unwinding GO:0032508 9.57 ERCC3 RECQL
12 embryonic organ development GO:0048568 9.56 ERCC3 RAD23B
13 UV protection GO:0009650 9.55 ERCC3 XPA
14 response to UV-B GO:0010224 9.54 DDB2 XPC
15 response to auditory stimulus GO:0010996 9.52 XPA XPC
16 regulation of mitotic cell cycle phase transition GO:1901990 9.51 ERCC3 XPC
17 global genome nucleotide-excision repair GO:0070911 9.43 CETN2 DDB2 ERCC3 RAD23B XPA XPC
18 nucleotide-excision repair, preincision complex assembly GO:0006294 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 protein binding GO:0005515 9.86 CETN2 DDB2 ERCC3 RAD23B RECQL UBA2
2 DNA binding GO:0003677 9.55 DDB2 ERCC3 RECQL XPA XPC
3 single-stranded DNA binding GO:0003697 9.32 RAD23B XPC
4 damaged DNA binding GO:0003684 9.02 DDB2 ERCC3 RAD23B XPA XPC
5 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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