MCID: XRD019
MIFTS: 52

Xeroderma Pigmentosum, Group C malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Eye diseases, Ear diseases

Aliases & Classifications for Xeroderma Pigmentosum, Group C

About this section
Sources:
49OMIM, 11diseasecard, 24GTR, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards 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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
xeroderma pigmentosum, group c:
Onset and clinical course: childhood onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 278720
Orphanet51 276255
ICD10 via Orphanet28 Q82.1
UMLS via Orphanet66 C2752147
MedGen34 C2752147
MeSH36 D014983
UMLS65 C2752147

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 xpc-related xeroderma pigmentosum and xeroderma pigmentosum, group a, and has symptoms including cutaneous melanoma, squamous cell carcinoma of the skin and dermal atrophy. An important gene associated with Xeroderma Pigmentosum, Group C is XPC (Xeroderma Pigmentosum, Complementation Group C), and among its related pathways are Transcription_P53 signaling pathway and Proteolysis_Putative ubiquitin pathway. Affiliated tissues include skin, kidney and brain, and related mouse phenotypes are tumorigenesis and cellular.

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 80)
idRelated DiseaseScoreTop Affiliating Genes
1xpc-related xeroderma pigmentosum12.6
2xeroderma pigmentosum, group a11.7
3cockayne syndrome11.6
4xeroderma pigmentosum, variant type11.5
5xeroderma pigmentosum, group e, ddb-negative subtype11.4
6xeroderma pigmentosum, group d11.4
7urinary bladder cancer11.4
8multiple cranial nerve palsy11.4
9skin benign neoplasm11.4
10glossopharyngeal nerve disease11.4
11mutagen sensitivity11.4
12li-fraumeni syndrome11.2
13breast cancer10.4
14hepatitis10.4
15dermatitis10.4
16contact dermatitis10.4
17allergic contact dermatitis10.4
18myelodysplastic syndrome10.3
19lymphoma10.3
20mutiple parosteal osteochondromatous proliferations10.3RAD23B, XPC
21schizophrenia10.2
22lung cancer10.2
23crouzon syndrome10.2
24hypertriglyceridemia10.2
25moebius syndrome10.2
26becker muscular dystrophy10.2
27hepatitis b10.2
28leukemia10.2
29retinitis pigmentosa10.2
30systemic mastocytosis10.2
31familial adenomatous polyposis10.2
32oppositional defiant disorder10.2
33ductal carcinoma in situ10.2
34lymphoblastic leukemia10.2
35paracoccidioidomycosis10.2
36prostatitis10.2
37angioedema10.2
38idiopathic generalized epilepsy10.2
39viral hepatitis10.2
40ovarian cancer10.2
41endometriosis10.2
42ischemia10.2
43cerebritis10.2
44retinitis10.2
45aortic aneurysm10.2
46ophthalmoplegia10.2
47kidney disease10.2
48abdominal aortic aneurysm10.2
49neuronitis10.2
50peritonitis10.2

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

About this section

Symptoms by clinical synopsis from OMIM:

278720

Clinical features from OMIM:

278720

HPO human phenotypes related to Xeroderma Pigmentosum, Group C:

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

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):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LevodopaapprovedPhase 2, Phase 136359-92-76047
Synonyms:
(-)-(3,4-Dihydroxyphenyl)alanine
(-)-3-(3,4-Dihydroxyphenyl)-L-alanine
(-)-3-(3,4-dihydroxyphenyl)-L-alanine
(-)-Dopa
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate
(2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid
(−)-3-(3,4-dihydroxyphenyl)-L-alanine
(−)-dopa
.Beta.-(3, 4-Dihydroxyphenyl)alanine
.Beta.-(3,4-Dihydroxyphenyl)-L-alanine
1E83F927-C221-46AA-B90A-81B33C5F3868
2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
23734-74-9
25525-15-9
3, 4-Dihydroxy-L-phenylalanine
3, 4-Dihydroxyphenylalanine
3,4-DIHYDROXYPHENYLALANINE
3,4-Dihydroxy-L-phenylalanine
3,4-Dihydroxyphenyl-L-alanine
3,4-Dihydroxyphenylalanine
3,4-Dihydroxyphenylalanine (VAN)
3,4-dihydroxy-L-phenylalanine
3,4-dihydroxyphenylalanine
3-(3,4-Dihydroxypheny
3-(3,4-Dihydroxyphenyl)-L-alanine
3-Hydroxy-L-tyrosine
34241-25-3
37830_FLUKA
587-45-1
59-92-7
72572-99-7
72573-00-3
88250-23-1
90638-38-3
AC-11686
AC1L1LOR
AC1Q4U7F
BIDD:GT0158
BPBio1_000059
BSPBio_000053
BSPBio_002354
Bendopa
Bio-0575
Biodopa
Brocadopa
C00355
C9H11NO4
CAS-59-92-7
CCRIS 3766
CHEBI:15765
CHEMBL1009
CID6047
Cerepap
Cidandopa
D 9628
D00059
D0600
D9628
D9628_SIGMA
DAH
DB01235
DOPA
Deadopa
Dihydroxy-L-phenylalanine
Dihydroxyphenylalanine
DivK1c_000452
Dopa
Dopaflex
Dopaidan
Dopal
Dopal-Fher
Dopal-fher
Dopalina
Dopar
Dopar (TN)
Doparkine
Doparl
Dopasol
Dopaston
Dopaston SE
Dopastone
Dopastral
Dopicar
Doprin
EINECS 200-445-2
EU-0100454
Eldopal
Eldopar
Eldopatec
Eurodopa
HMS1568C15
HMS1922J14
HMS2090O08
HMS2093N04
HMS501G14
HSDB 3348
Helfo DOPA
 
Helfo-Dopa
Helfo-dopa
IDI1_000452
IV Levodopa
InChI=1/C9H11NO4/c10-6(9(13)14)3-5-1-2-7(11)8(12)4-5/h1-2,4,6,11-12H,3,10H2,(H,13,14
Insulamina
KBio1_000452
KBio2_000934
KBio2_003502
KBio2_006070
KBioGR_001177
KBioSS_000934
L Dopa
L(-)-Dopa
L-(-)-Dopa
L-(3, 4-Dihydroxyphenyl)-.alpha.-alani
L-(3, 4-Dihydroxyphenyl)alanine
L-(o-Dihydroxyphenyl)alanine
L-.Beta.-(3,4-Dihydroxyphenyl)alanine
L-3,4-Dihydroxyphenylalanine
L-3,4-dihydroxyphenylalanine
L-3-(3,4-Dihydroxyphenyl)-Alanine
L-3-(3,4-Dihydroxyphenyl)alanine
L-3-Hydroxytyrosine
L-4-5-Dihydroxyphenylalanine
L-DOPA
L-DOPA, Parcopa, Atamet, Stalevo, Madopar, Prolopa, Dopar, 3,4-Dihydroxyphenylalanine, Levodopa
L-Dihydroxyphenylalanine
L-Dopa
L-O-Dihydroxyphenylalanine
L-b-(3,4-Dihydroxyphenyl)-a-alanine
L-beta-(3,4-Dihydroxyphenyl)-alpha-alanine
L-beta-(3,4-Dihydroxyphenyl)alanine
L-o-Hydroxytyrosine
LS-255
Laradopa
Larodopa
Ledopa
Levedopa
Levodopa
Levodopa (JP15/USP)
Levodopa (JP15/USP/INN)
Levodopa [USAN:INN:BAN:JAN]
Levodopum
Levodopum [INN-Latin]
Levopa
Lopac-D-9628
Lopac0_000454
MLS000028514
Maipedopa
MolPort-000-856-937
NCGC00015384-01
NCGC00016270-01
NCGC00016270-06
NCGC00093869-04
NINDS_000452
NSC 118381
NSC118381
PDSP1_001541
PDSP2_001525
Parda
Pardopa
Prestwick0_000017
Prestwick1_000017
Prestwick2_000017
Prestwick3_000017
Prestwick_185
Prodopa
Ro 4-6316
S1726_Selleck
SDCCGMLS-0066924.P001
SMR000058312
SPBio_000391
SPBio_001974
SPECTRUM2300205
Sobiodopa
Spectrum2_000496
Spectrum4_000539
Spectrum5_001899
Spectrum_000454
Syndopa
UNII-46627O600J
Veldopa
Weldopa
b-(3,4-Dihydroxyphenyl)-L-alanine
b-(3,4-Dihydroxyphenyl)-a-L-alanine
b-(3,4-Dihydroxyphenyl)alanine
beta-(3,4-Dihydroxyphenyl)-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-L-alanine
beta-(3,4-Dihydroxyphenyl)-alpha-alanine
beta-(3,4-Dihydroxyphenyl)alanine
bmse000322
component of Sinemet
l)-L-alanine
nchembio.2007.55-comp26
nchembio.89-comp9
ne
β-(3,4-dihydroxyphenyl)alanine
2
CarbidopaapprovedPhase 2, Phase 115928860-95-934359, 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
3
DopamineapprovedPhase 2, Phase 1308462-31-7, 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
4Immunologic FactorsPhase 2, Phase 118483
5Antiparkinson AgentsPhase 2, Phase 11312
6Neurotransmitter AgentsPhase 2, Phase 114795
7Dopamine AgonistsPhase 2, Phase 1544
8Dopamine AgentsPhase 2, Phase 13084
9Carbidopa, levodopa drug combinationPhase 2, Phase 1104
10Adjuvants, ImmunologicPhase 2, Phase 11783
11Aromatic Amino Acid Decarboxylase InhibitorsPhase 2, Phase 1116

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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Anatomical Context for Xeroderma Pigmentosum, Group C

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

33
Skin, Kidney, Brain, Breast, Thyroid, Neutrophil, Pituitary

Animal Models for Xeroderma Pigmentosum, Group C or affiliated genes

About this section

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Group C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8DDB2, ERCC3, ERCC8, MMP1, TP73, XPC
2MP:00053847.1CETN2, DDB2, ERCC3, ERCC8, RAD23A, RAD23B

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
RNA-binding protein RNPC1: acting as a tumor suppressor in breast cancer. (24884756)
2014
2
MTA1 promotes cell proliferation via DNA damage repair in epithelial ovarian cancer. (25501238)
2014
3
MicroRNA-335 inhibits invasion and metastasis of colorectal cancer by targeting ZEB2. (24829139)
2014
4
Risk factors for kidney diseases and awareness of blood pressure and proteinuria in general population and in high school students: Italian report for World Kidney Days 2012-2013. (24052467)
2013
5
Periocular triamcinolone acetonide injections for control of intraocular inflammation associated with uveitis. (23617776)
2013
6
Mitochondrial Dysfunction and NAD(+) Metabolism Alterations in the Pathophysiology of Acute Brain Injury. (24323416)
2013
7
The influence of leptin on Th1/Th2 balance in obese children with asthma. (24310629)
2013
8
Diversity of oat varieties in eliciting the early inflammatory events in celiac disease. (24240659)
2013
9
Progressive dyspnea complicated by fever and massive hemoptysis in a 61-year-old man with extremity chondrosarcoma. (23918115)
2013
10
Lipopolysaccharide modifications of a cholera vaccine candidate based on outer membrane vesicles reduce endotoxicity and reveal the major protective antigen. (23630951)
2013
11
Acute pyelonephritis: risk factors, diagnosis and treatment. (23256302)
2012
12
Lynch syndrome: new tales from the crypt. (22552010)
2012
13
Interobserver agreement on MRI evaluation of patients with cervical radiculopathy. (21147295)
2011
14
Femoral nerve palsy caused by ileopectineal bursitis after total hip replacement: a case report. (21592375)
2011
15
First-trimester placental protein 13, PAPP-A, uterine artery Doppler and maternal characteristics in the prediction of pre-eclampsia. (21652068)
2011
16
Images in haematology. Noonan syndrome associated with bleeding disorders. (20738302)
2010
17
Serum IGF-I and C-reactive protein in healthy black and white young men: the CARDIA male hormone study. (19138871)
2009
18
Anaplasma phagocytophilum increases cathepsin L activity, thereby globally influencing neutrophil function. (18765732)
2008
19
Inferior vena cava obstruction due to cecum adenocarcinoma. (17189847)
2007
20
The ryanodine receptor pore blocker neomycin also inhibits channel activity via a previously undescribed high-affinity Ca(2+) binding site. (17879109)
2007
21
Neuroleptic malignant syndrome from aripiprazole in an agitated pediatric patient. (17272970)
2007
22
Anemia as a risk factor for chronic kidney disease. (17943141)
2007
23
Activation of human mitochondrial pantothenate kinase 2 by palmitoylcarnitine. (17242360)
2007
24
Towards the elimination of onchocerciasis. (17227651)
2006
25
Endocrine stress responses in TH1-mediated chronic inflammatory skin disease (psoriasis vulgaris)--do they parallel stress-induced endocrine changes in TH2-mediated inflammatory dermatoses (atopic dermatitis)? (16359823)
2006
26
Epidural pentobarbital delivery can prevent locally induced neocortical seizures in rats: the prospect of transmeningeal pharmacotherapy for intractable focal epilepsy. (17116017)
2006
27
Characterization of beta3-adrenergic receptor: determination of pharmacophore and 3D QSAR model for beta3 adrenergic receptor agonism. (16075304)
2005
28
Putative efficacy and dosage of prolyl endopeptidase for digesting and detoxifying gliadin peptides. (16230098)
2005
29
Markers of inflammation are cross-sectionally associated with microvascular complications and cardiovascular disease in type 1 diabetes--the EURODIAB Prospective Complications Study. (15692810)
2005
30
SEN virus infection among patients on maintenance hemodialysis in southern Taiwan. (16038760)
2005
31
Three-dimensional conformal radiotherapy for portal vein thrombosis of hepatocellular carcinoma. (15822130)
2005
32
Cutaneous extraskeletal mesenchymal chondrosarcoma in a cat. (15842543)
2005
33
Uncommon complication of herpes simplex encephalitis. (15569291)
2004
34
The Rheb family of GTP-binding proteins. (15240005)
2004
35
Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects. (14654360)
2003
36
The role of LFA-1 in the lysis of bladder cancer cells by bacillus Calmette-GuAcrin and interleukin 2-activated killer cells. (12202941)
2002
37
The expression of the F-box protein Skp2 is negatively associated with p27 expression in human pituitary tumors. (14558671)
2002
38
Pityriasis rosea is associated with systemic active infection with both human herpesvirus-7 and human herpesvirus-6. (12406322)
2002
39
CTLA-4 blockade of antigen-induced cell death. (11159548)
2001
40
Effects of prolactin on HLA-DR and CD40 expressions by human thyrocytes. (11729509)
2001
41
Zinc regulates the function and expression of the iron transporters DMT1 and IREG1 in human intestinal Caco-2 cells. (11684086)
2001
42
Composition of nephritic factor-generated glomerular deposits in membranoproliferative glomerulonephritis type 2. (11382679)
2001
43
TAL1 expression does not occur in the majority of T-ALL blasts. (9695959)
1998
44
ret/PTC-1, -2, and -3 oncogene rearrangements in human thyroid carcinomas: implications for metastatic potential? (8784097)
1996
45
An inhibitory carboxyl-terminal domain in Ets-1 and Ets-2 mediates differential binding of ETS family factors to promoter sequences of the mb-1 gene. (1409581)
1992
46
Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization. (1575528)
1992
47
Immunohistochemical analysis of GH-producing adenomas--with special emphasis on plurihormonality of individual tumor cells by double staining. (1285309)
1992
48
Risk factors associated with the acquisition of sleeping sickness in north-east Zambia; a case-control study. (3865637)
1985
49
Confirmatory serodiagnosis of lymphogranuloma venereum proctitis may yield false-positive results due to other chlamydial infections of the rectum. (7221807)
1981
50
Mesenteric vascular occlusion: analysis of a series of cases and report of a successful embolectomy. (13985248)
1963

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:

idSuper pathwaysScoreTop Affiliating Genes
19.3ERCC3, GTF2H1, TDG, XPC
29.1RBX1, UBE2D1
3
Show member pathways
8.9RBX1, UBE2D1
4
Show member pathways
8.8ERCC3, ERCC5, ERCC8, GTF2H1, RAD23B, XPC
58.8RBX1, TP73, UBE2D1
6
Show member pathways
8.3RAD23A, RAD23B, RBX1, UBE2D1
7
Show member pathways
6.5CETN2, DDB2, ERCC3, ERCC5, ERCC8, GTF2H1
8
Show member pathways
6.5CETN2, DDB2, ERCC3, ERCC5, ERCC8, GTF2H1
9
Show member pathways
6.3CETN2, DDB2, ERCC3, ERCC5, ERCC8, GTF2H1

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
1Cul4A-RING E3 ubiquitin ligase complexGO:00314649.4ERCC8, RBX1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1UV protectionGO:000965010.5ERCC3, ERCC5
2transcription from RNA polymerase I promoterGO:000636010.4ERCC3, GTF2H1
3transcription initiation from RNA polymerase I promoterGO:000636110.3ERCC3, GTF2H1
4termination of RNA polymerase I transcriptionGO:000636310.2ERCC3, GTF2H1
5UV-damage excision repairGO:007091410.2DDB2, XPC
6nucleotide-excision repairGO:000628910.1DDB2, ERCC8
7regulation of cytokinesisGO:003246510.0CETN2, UVRAG
8nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.0DDB2, ERCC3
9nucleotide-excision repair, preincision complex stabilizationGO:000629310.0ERCC3, ERCC5, GTF2H1
10nucleotide-excision repair, DNA damage recognitionGO:00007159.4RAD23B, RBX1, XPC
11transcription-coupled nucleotide-excision repairGO:00062839.2ERCC3, ERCC8, GTF2H1, RBX1
12nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.2ERCC3, ERCC5, GTF2H1, RBX1
13cellular response to DNA damage stimulusGO:00069748.8ERCC8, RAD23A, RAD23B, TP73, XPC
14global genome nucleotide-excision repairGO:00709118.8DDB2, ERCC3, GTF2H1, RBX1
15nucleotide-excision repair, DNA duplex unwindingGO:00007178.7CETN2, DDB2, ERCC3, GTF2H1
16nucleotide-excision repair, DNA incisionGO:00336838.6DDB2, ERCC5, GTF2H1, RBX1
17nucleotide-excision repair, preincision complex assemblyGO:00062948.5DDB2, ERCC3, GTF2H1, RAD23B, RBX1, XPC
18viral processGO:00160328.5ERCC3, GTF2H1, MMP1, RBX1, TP73
19DNA repairGO:00062817.6DDB2, ERCC3, ERCC5, ERCC8, GTF2H1, RBX1

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

idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA bindingGO:00036979.1ERCC5, RAD23A, RAD23B, XPC

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