MCID: XRD019
MIFTS: 52

Xeroderma Pigmentosum, Group C malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Eye diseases, Ear diseases categories

Aliases & Classifications for Xeroderma Pigmentosum, Group C

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Sources:
49OMIM, 11diseasecard, 24GTR, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Xeroderma Pigmentosum, Group C:

Name: Xeroderma Pigmentosum, Group C 49 11 24
Xeroderma Pigmentosum Complementation Group C 51 67
Xpc 51 67
Xeroderma Pigmentosum, Complementation Group C 65
Xeroderma Pigmentosum, Type 3 45
 
Xeroderma Pigmentosum Iii 67
Xp Group C 67
Xpcc 67
Xp-C 67
Xp3 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
xeroderma pigmentosum complementation group c:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM49 278720
Orphanet51 276255
ICD10 via Orphanet28 Q82.1
UMLS via Orphanet66 C2752147
MedGen34 C2752147
MeSH36 D014983

Summaries for Xeroderma Pigmentosum, Group C

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OMIM:49 Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet... (278720) more...

MalaCards based summary: Xeroderma Pigmentosum, Group C, also known as xeroderma pigmentosum complementation group c, is related to xeroderma pigmentosum, group a and melanoma, and has symptoms including autosomal recessive inheritance, keratitis and conjunctivitis. An important gene associated with Xeroderma Pigmentosum, Group C is XPC (Xeroderma Pigmentosum, Complementation Group C), and among its related pathways are DNA damage_Role of Brca1 and Brca2 in DNA repair and Platinum Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skin, lung and liver, and related mouse phenotypes are integument and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Xeroderma Pigmentosum, Group C

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Diseases in the Xeroderma Pigmentosum, Group B family:

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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group a30.0XPA, XPC
2melanoma10.6
3lung cancer10.5
4cockayne syndrome10.5
5colorectal cancer10.5
6hiv-110.4
7breast cancer10.4
8basal cell carcinoma10.4
9ovarian cancer10.4
10cockayne syndrome, type a10.4
11nasopharyngeal carcinoma10.4
12xeroderma pigmentosum, group d10.4
13nasopharyngitis10.4
14adenocarcinoma10.4
15testicular cancer10.4
16hepatocellular carcinoma10.2
17leukemia10.2
18xpc-related xeroderma pigmentosum10.2
19xeroderma pigmentosum, group e, ddb-negative subtype10.2DDB2, XPC
20transient tyrosinemia of the newborn10.2ERCC3, ERCC5
21prostate cancer10.2
22gastric cancer10.2
23esophagitis10.2
24myeloid leukemia10.2
25prostatitis10.2
26congenital epulis10.0ABCA1, TDG
27cerebrooculofacioskeletal syndrome 110.0ERCC2, ERCC5
28huntington disease10.0
29pancreatic cancer10.0
30colorectal adenoma10.0
31male infertility10.0
32malignant glioma10.0
33sporadic breast cancer10.0
34azoospermia10.0
35infertility10.0
36adenoma10.0
37cervicitis10.0
38gallbladder adenocarcinoma10.0
39laryngeal squamous cell carcinoma10.0
40laryngitis10.0
41lymphoblastic leukemia10.0
42pancreatitis10.0
43transitional cell carcinoma10.0
44trichothiodystrophy 1, photosensitive10.0ERCC2, ERCC3, XPC
45cerebrocostomandibular-like syndrome10.0ERCC2, ERCC3, ERCC5
46congenital stationary night blindness9.9ERCC2, ERCC3
47baller-gerold syndrome9.9ERCC2, ERCC3, RECQL
48mutiple parosteal osteochondromatous proliferations9.9ERCC2, RAD23B, XPA, XPC
49xeroderma pigmentosum, group b9.7ERCC2, ERCC3, GTF2H1
50cerebrooculofacioskeletal syndrome 29.7ERCC2, ERCC3, ERCC5, RAD23B, XPA

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



Diseases related to xeroderma pigmentosum, group c

Symptoms for Xeroderma Pigmentosum, Group C

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Symptoms by clinical synopsis from OMIM:

278720

Clinical features from OMIM:

278720

HPO human phenotypes related to Xeroderma Pigmentosum, Group C:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 keratitis HP:0000491
3 conjunctivitis HP:0000509
4 photophobia HP:0000613
5 entropion HP:0000621
6 ectropion HP:0000656
7 cutaneous photosensitivity HP:0000992
8 telangiectasia HP:0001009
9 hypopigmentation of the skin HP:0001010
10 poikiloderma HP:0001029
11 basal cell carcinoma HP:0002671
12 defective dna repair after ultraviolet radiation damage HP:0003079
13 dermal atrophy HP:0004334
14 squamous cell carcinoma of the skin HP:0006739
15 childhood onset HP:0011463
16 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Group C

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 2, Phase 1281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2
CarbidopaapprovedPhase 2, Phase 114428860-95-934359, 38101
Synonyms:
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid
(-)-L-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-Dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazino-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid hydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid monohydrate
(2S)-3-(3,4-dihydroxyphenyl)-2-hydrazinyl-2-methylpropanoic acid--water (1/1)
(AlphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
(S)-(-)-Carbidopa hydrate
(S)-(-)-carbidopa
(S)-(-)-carbidopa hydrate
(S)-(−)-carbidopa hydrate
(S)-alpha--Hydrazino-3,4-dihydroxy-alpha--methyl-benzenepropanoic acid monohydrate
(S)-carbidopa
(S)-carbidopa hydrate
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid
(alphaS)-alpha-hydrazino-3,4-dihydroxy-alpha-methylbenzenepropanoic acid monohydrate
27925-91-3
28860-95-9
31823-41-3
38821-49-7
AC-1676
AC1L1RFR
AC1L1Z32
AC1Q5QGW
Atamet
BB_SC-5095
Benzenepropanoic acid, alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate, (S)
C-126
C-DOPA
C126_SIGMA
C1335_SIGMA
CCRIS 5093
CHEBI:3395
CHEBI:39585
CHEMBL1200748
CHEMBL1201236
CID34359
CID38101
CPD-11550
Carbidopa
Carbidopa (anhydrous)
Carbidopa Anhydrous
Carbidopa Monohydrate
Carbidopa [USAN:INN:BAN]
Carbidopa anhydrous
Carbidopa hydrate
Carbidopa monohydrate
Carbidopa, (S)-Isomer
 
Carbidopa, Entacapone, & Levodopa
Carbidopa-1-wasser
Carbidopum
Carbidopum [INN-Latin]
Carbidopum monohydricum
DB00190
EINECS 249-271-9
EU-0100382
HMS2089B12
Hadrazino-alpha-methyldopa
Hydrocinnamic acid, (-)-L-alpha-hydrazino-3,4-dihydroxy-alpha-methyl-, monohydrate
KINSON, 3-(3,4-DIHYDROXY-PHENYL)-2-HYDRAZINO-2-METHYL-PROPIONIC ACID
L-3-(3,4-Dihydroxyphenyl)-2-methyl-2-hydrazinopropionic acid
L-alpha-(3,4-Dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-(3,4-dihydroxybenzyl)-alpha-hydrazinopropionic acid monohydrate
L-alpha-Methyl-alpha-hydrazino-beta-(3,4-dihydroxyphenylpropionic acid
L-alpha-Methyl-beta-(3,4-dihydroxyphenyl)-alpha-hydrazinopropionic acid
L-alpha-Methyldopahydrazine
LS-77199
Lodosin
Lodosyn
Lodosyn, Carbidopa
Lopac0_000382
MK 486
MK-485
MK-486
MLS000069628
MLS002207014
Methyldopahydrazine
MolPort-003-940-629
MolPort-005-934-181
N-Aminomethyldopa
NCGC00024596-01
NCGC00024596-03
NCGC00024596-05
NCGC00024596-06
S(-)-CARBIDOPA
S(-)-alpha-Hydrazino-3,4-dihydroxy-alpha-methylhydrocinnamic acid monohydrate
S-(-)-Carbidopa
S-(-)-alpha-Hydrazino-3,4-dihydroxy-2-methylbenzenepropanoic acid
S1891_Selleck
SMP1_000057
SMR000058235
ST055523
Stalevo
Tocris-0455
UNII-KR87B45RGH
UNII-MNX7R8C5VO
alpha-Hydrazino-alpha-methyl-beta-(3,4-dihydroxyphenyl)propionic acid
alpha-Methyldopahydrazine
carbidopa
carbidopa hydrate
carbidopum monohydricum

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Efficacy, Safety and Pharmacokinetic Study of XP21279 and Sinemet® in Parkinson's Disease SubjectsCompletedNCT01171313Phase 2
2An Exploratory Study of XP21279 (With Lodosyn®) and Sinemet® in Parkinson's Disease SubjectsCompletedNCT00914602Phase 1, Phase 2

Search NIH Clinical Center for Xeroderma Pigmentosum, Group C

Genetic Tests for Xeroderma Pigmentosum, Group C

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Genetic tests related to Xeroderma Pigmentosum, Group C:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Group C24

Anatomical Context for Xeroderma Pigmentosum, Group C

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

33
Skin, Lung, Liver, Eye

Animal Models for Xeroderma Pigmentosum, Group C or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4DDB2, ERCC2, ERCC3, ERCC5, ERCC8, RAD23B
2MP:00053798.2ABCA1, APEX1, ERCC2, ERCC3, RAD23B, TP73
3MP:00020067.9APEX1, DDB2, ERCC2, ERCC3, ERCC8, MMP1
4MP:00053787.2ABCA1, APEX1, DDB2, ERCC2, ERCC3, ERCC5
5MP:00053846.5ABCA1, APEX1, DDB2, ERCC2, ERCC3, ERCC8
6MP:00107686.4ABCA1, APEX1, DDB2, ERCC2, ERCC3, ERCC5
7MP:00053766.3ABCA1, APEX1, ERCC2, ERCC5, ERCC8, MMP1

Publications for Xeroderma Pigmentosum, Group C

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Articles related to Xeroderma Pigmentosum, Group C:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. (25628365)
2015
2
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. (24218596)
2013
3
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
4
Identification of a Functional In Vivo p53 Response Element in the Coding Sequence of the Xeroderma Pigmentosum Group C Gene. (23050045)
2012
5
Dissection of the xeroderma pigmentosum group C protein function by site-directed mutagenesis. (20649465)
2011
6
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. (20054342)
2010
7
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. (19686765)
2010
8
Diagnosing xeroderma pigmentosum group C by immunohistochemistry. (19915453)
2010
9
p53 dysfunction by xeroderma pigmentosum group C defects enhance lung adenocarcinoma metastasis via increased MMP1 expression. (21056989)
2010
10
Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. (18785488)
2008
11
Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival. (18717677)
2008
12
Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. (18469853)
2008
13
The xeroderma pigmentosum group C gene polymorphisms and genetic susceptibility of nasopharyngeal carcinoma. (17882560)
2008
14
Molecular basis of xeroderma pigmentosum group C DNA recognition by engineered meganucleases. (18987743)
2008
15
Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. (17510383)
2007
16
Ubiquitylation-independent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. (17693435)
2007
17
Xeroderma pigmentosum group C gene expression is predominantly regulated by promoter hypermethylation and contributes to p53 mutation in lung cancers. (17325666)
2007
18
Xeroderma pigmentosum group C in an isolated region of Guatemala. (16990803)
2007
19
Deficient base excision repair of oxidative DNA damage induced by methylene blue plus visible light in xeroderma pigmentosum group C fibroblasts. (17573042)
2007
20
Structural, thermodynamic, and cellular characterization of human centrin 2 interaction with xeroderma pigmentosum group C protein. (17897675)
2007
21
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
22
Flexibility and plasticity of human centrin 2 binding to the xeroderma pigmentosum group C protein (XPC) from nuclear excision repair. (16533048)
2006
23
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study. (15731165)
2005
24
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (15744458)
2005
25
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. (15494739)
2005
26
DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. (15654957)
2005
27
Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein. (15964821)
2005
28
Relative levels of the two mammalian Rad23 homologs determine composition and stability of the xeroderma pigmentosum group C protein complex. (15336624)
2004
29
A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein. (12815074)
2003
30
Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase. (12505994)
2003
31
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
32
Genetic correction of DNA repair-deficient/cancer-prone xeroderma pigmentosum group C keratinocytes. (12869216)
2003
33
Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. (12485438)
2002
34
p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. (12242345)
2002
35
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. (11511294)
2001
36
Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair. (11279143)
2001
37
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
38
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. (11023539)
2000
39
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
40
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. (9734359)
1998
41
Characterization of the properties of a human homologue of Escherichia coli RecQ from xeroderma pigmentosum group C and from HeLa cells. (8790942)
1996
42
Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. (8168482)
1994
43
Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25. (8088800)
1994
44
Repair in ribosomal RNA genes is deficient in xeroderma pigmentosum group C and in Cockayne's syndrome cells. (7512688)
1994
45
Characterization of molecular defects in Xeroderma pigmentosum group C. (8298653)
1993
46
DNA strand bias in the repair of the p53 gene in normal human and xeroderma pigmentosum group C fibroblasts. (8221675)
1993
47
Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C. (1522891)
1992
48
Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. (1461286)
1992
49
Radiation-induced chromatid aberrations in Cockayne syndrome and xeroderma pigmentosum group C fibroblasts in relation to cancer predisposition. (1756475)
1991
50
An immortalized xeroderma pigmentosum, group C, cell line which replicates SV40 shuttle vectors. (3029584)
1987

Variations for Xeroderma Pigmentosum, Group C

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

67
id Symbol AA change Variation ID SNP ID
1XPCp.Pro334HisVAR_005846rs74737358
2XPCp.Trp690SerVAR_064039

Clinvar genetic disease variations for Xeroderma Pigmentosum, Group C:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1XPCNM_004628.4(XPC): c.2262delC (p.Asn754Lysfs)deletionPathogenicrs786205206GRCh38Chr 3, 14148720: 14148720
2XPCNM_004628.4(XPC): c.622-2A> Csingle nucleotide variantPathogenicrs201940931GRCh38Chr 3, 14165587: 14165587
3XPCNM_004628.4(XPC): c.1677C> A (p.Tyr559Ter)single nucleotide variantPathogenicrs767569346GRCh37Chr 3, 14199706: 14199706
4XPCNM_004628.4(XPC): c.2251-1G> Csingle nucleotide variantPathogenicrs754673606GRCh37Chr 3, 14190232: 14190232
5XPCNM_004628.4(XPC): c.1001C> A (p.Pro334His)single nucleotide variantPathogenicrs74737358GRCh37Chr 3, 14200382: 14200382
6XPCXPC, 83-BP INS, NT462insertionPathogenic
7XPCXPC, 3-BP INS, GGT, CODON 580 AND LYS822GLNinsertionPathogenic
8XPCNM_004628.4(XPC): c.1292_1293delAA (p.Lys431Argfs)deletionPathogenicrs794729654GRCh37Chr 3, 14200090: 14200091
9XPCNM_004628.4(XPC): c.2033+2T> Gsingle nucleotide variantPathogenicrs794729655GRCh37Chr 3, 14197833: 14197833
10XPCNM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs)deletionPathogenicrs752088918GRCh37Chr 3, 14208723: 14208724
11XPCNM_004628.4(XPC): c.1735C> T (p.Arg579Ter)single nucleotide variantPathogenicrs121965088GRCh37Chr 3, 14199648: 14199648
12XPCNM_004628.4(XPC): c.413-9T> Asingle nucleotide variantPathogenicrs794729656GRCh37Chr 3, 14209889: 14209889
13XPCNM_004628.4(XPC): c.413-24A> Gsingle nucleotide variantPathogenicrs794729657GRCh37Chr 3, 14209904: 14209904
14XPCNM_004628.4(XPC): c.1643_1644delTG (p.Val548Alafs)deletionPathogenicrs754532049GRCh37Chr 3, 14199739: 14199740

Expression for genes affiliated with Xeroderma Pigmentosum, Group C

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

Pathways for genes affiliated with Xeroderma Pigmentosum, Group C

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

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6DDB2, POLR2L, XPC
29.4ERCC2, ERCC3, XPA
3
Show member pathways
8.7ERCC2, ERCC3, GTF2H1, POLR2L
4
Show member pathways
8.4ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L
5
Show member pathways
8.2ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L, TDG
68.1APEX1, ERCC2, ERCC3, GTF2H1, TDG, XPA
7
Show member pathways
7.3APEX1, ERCC2, ERCC3, ERCC5, ERCC8, GTF2H1
86.9APEX1, DDB2, ERCC2, ERCC3, RAD23A, RAD23B
9
Show member pathways
6.3CETN2, DDB2, ERCC2, ERCC3, ERCC5, ERCC8
10
Show member pathways
5.8CETN2, DDB2, ERCC2, ERCC3, ERCC5, ERCC8
11
Show member pathways
5.2APEX1, CETN2, DDB2, ERCC2, ERCC3, ERCC5

GO Terms for genes affiliated with Xeroderma Pigmentosum, Group C

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

idNameGO IDScoreTop Affiliating Genes
1DNA replication factor A complexGO:000566210.4ERCC5, XPA
2DNA-directed RNA polymerase I complexGO:000573610.4POLR1C, POLR2L
3DNA-directed RNA polymerase III complexGO:000566610.2POLR1C, POLR2L
4XPC complexGO:007194210.2CETN2, RAD23B, XPC
5core TFIIH complexGO:000043910.1ERCC2, ERCC3, GTF2H1
6holo TFIIH complexGO:00056759.7ERCC2, ERCC3, ERCC5, GTF2H1
7nucleusGO:00056345.6APEX1, ERCC2, ERCC3, ERCC5, ERCC8, GTF2H1
8nucleoplasmGO:00056544.3APEX1, CETN2, DDB2, ERCC2, ERCC3, ERCC5

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1response to X-rayGO:001016510.6ERCC8, TP73
2DNA demethylationGO:008011110.5APEX1, TDG
3response to auditory stimulusGO:001099610.5XPA, XPC
4hair cell differentiationGO:003531510.4ERCC2, ERCC3
5UV-damage excision repairGO:007091410.4DDB2, XPC
6regulation of mitotic cell cycle phase transitionGO:190199010.3ERCC2, ERCC3, XPC
7regulation of cytokinesisGO:003246510.2CETN2, UVRAG
8UV protectionGO:000965010.2ERCC2, ERCC3, ERCC5
9transcription elongation from RNA polymerase III promoterGO:000638510.2POLR1C, POLR2L
10termination of RNA polymerase III transcriptionGO:000638610.2POLR1C, POLR2L
11mismatch repairGO:000629810.1APEX1, TDG, TP73, XPC
12protein sumoylationGO:001692510.0CETN2, TDG, XPC
13regulation of proteasomal ubiquitin-dependent protein catabolic processGO:003243410.0RAD23A, RAD23B
14nucleotide-excision repair, DNA damage recognitionGO:00007159.6CETN2, DDB2, RAD23B, XPC
15response to oxidative stressGO:00069799.4ERCC2, ERCC3, ERCC8, XPA
167-methylguanosine mRNA cappingGO:00063709.3ERCC2, ERCC3, GTF2H1, POLR2L
17transcription initiation from RNA polymerase II promoterGO:00063679.2ERCC2, ERCC3, GTF2H1, POLR2L
18transcription elongation from RNA polymerase II promoterGO:00063689.2ERCC2, ERCC3, GTF2H1, POLR2L
19positive regulation of viral transcriptionGO:00504349.2ERCC2, ERCC3, GTF2H1, POLR2L
20transcription elongation from RNA polymerase I promoterGO:00063629.1ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L
21transcription from RNA polymerase I promoterGO:00063609.0ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L
22transcription initiation from RNA polymerase I promoterGO:00063619.0ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L
23termination of RNA polymerase I transcriptionGO:00063639.0ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L
24cellular response to DNA damage stimulusGO:00069749.0ERCC8, RAD23A, RAD23B, TP73, XPC
25response to UVGO:00094118.8DDB2, ERCC2, ERCC3, ERCC5, ERCC8, XPA
26nucleotide-excision repair, DNA incisionGO:00336838.7DDB2, ERCC2, ERCC3, ERCC5, GTF2H1, XPA
27transcription from RNA polymerase II promoterGO:00063668.5ERCC2, ERCC3, GTF2H1, POLR2L, TP73
28negative regulation of gene expression, epigeneticGO:00458148.4ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L
29nucleotide-excision repair, DNA damage removalGO:00007188.4DDB2, ERCC2, ERCC3, ERCC5, GTF2H1, RAD23B
30gene expressionGO:00104678.1ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L, TDG
31transcription-coupled nucleotide-excision repairGO:00062837.9APEX1, ERCC2, ERCC3, ERCC5, ERCC8, GTF2H1
32regulation of gene expression, epigeneticGO:00400297.9ERCC2, ERCC3, GTF2H1, POLR1C, POLR2L, TDG
33viral processGO:00160327.7ERCC2, ERCC3, GTF2H1, MMP1, POLR2L, RAD23A
34global genome nucleotide-excision repairGO:00709117.7CETN2, DDB2, ERCC2, ERCC3, ERCC5, GTF2H1
35nucleotide-excision repairGO:00062895.8APEX1, CETN2, DDB2, ERCC2, ERCC3, ERCC5
36DNA repairGO:00062815.8APEX1, CETN2, DDB2, ERCC2, ERCC3, ERCC5

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040510.7ERCC5, XPC
2uracil DNA N-glycosylase activityGO:000484410.6APEX1, TDG
3RNA polymerase I activityGO:000105410.4POLR1C, POLR2L
4endodeoxyribonuclease activityGO:000452010.4APEX1, ERCC5
5double-stranded DNA bindingGO:000369010.3ERCC5, TDG, TP73
6RNA polymerase III activityGO:000105610.3POLR1C, POLR2L
7protein N-terminus bindingGO:004748510.1ERCC2, ERCC3, ERCC5
8polyubiquitin bindingGO:003159310.1RAD23A, RAD23B
9ATP-dependent DNA helicase activityGO:000400310.0ERCC2, ERCC3, RECQL
10RNA polymerase II carboxy-terminal domain kinase activityGO:00083539.9ERCC2, ERCC3, GTF2H1
11single-stranded DNA bindingGO:00036979.5ERCC5, RAD23A, RAD23B, XPC
12DNA-dependent ATPase activityGO:00080949.5ERCC2, ERCC3, ERCC8, GTF2H1
13damaged DNA bindingGO:00036848.1APEX1, DDB2, ERCC3, RAD23A, RAD23B, TDG
14DNA bindingGO:00036777.8APEX1, DDB2, ERCC2, ERCC3, ERCC5, POLR1C
15protein bindingGO:00055153.8ABCA1, APEX1, CETN2, DDB2, ERCC2, ERCC3

Sources for Xeroderma Pigmentosum, Group C

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet