×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
Biomarker
CLINGEN
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
11121128 2000
×
Entrez Id: 7508
Gene Symbol: XPC
XPC
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
1.000
Biomarker
CLINGEN
We have isolated a mouse homologue of the human gene for XP group C and generated XPC -deficient mice by using embryonic stem cell technology.
7675084 1995
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC ) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP.
1339397 1992
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.
2234061 1990
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
Three nonsense mutations responsible for group A xeroderma pigmentosum.
1372102 1992
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
Clinical utility gene card for: Xeroderma pigmentosum.
24105368 2014
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene.
7675085 1995
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
Premature aging in mice deficient in DNA repair and transcription.
11950998 2002
×
Entrez Id: 7507
Gene Symbol: XPA
XPA
Xeroderma pigmentosum, group A
1.000
Biomarker
CLINGEN
Here we show that mice lacking both the XPA (XP-group A ) and CSB (CS-group B) genes in contrast to the single mutants display severe growth retardation, ataxia, and motor dysfunction during early postnatal development.
11687625 2001
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
Mutational inactivation of the gene WRN causes Werner syndrome , an autosomal recessive disease characterized by premature aging, elevated genomic instability and increased cancer incidence.
15235603 2004
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
The gene responsible for WS (known as WRN ) was identified by positional cloning.
8602509 1996
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
Analysis of helicase gene mutations in Japanese Werner's syndrome patients.
9048918 1997
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells.
8641691 1996
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
The gene defective in WS , WRN , encodes a DNA helicase.
10757812 2000
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein.
10628995 2000
×
Entrez Id: 7486
Gene Symbol: WRN
WRN
Werner Syndrome
1.000
Biomarker
CLINGEN
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
10678659 2000
×
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
Dyskeratosis Congenita
0.650
Biomarker
CLINGEN
WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies.
21072240 2010
×
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
Dyskeratosis Congenita
0.650
Biomarker
CLINGEN
We identify DC patients with missense mutations in TCAB1 , a telomerase holoenzyme protein that facilitates trafficking of telomerase to Cajal bodies.
21205863 2011
×
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
Dyskeratosis Congenita
0.650
Biomarker
CLINGEN
In iPSCs from a form of dyskeratosis congenita caused by mutations in TCAB1 (also known as WRAP53 ), telomerase catalytic activity is unperturbed, yet the ability of telomerase to lengthen telomeres is abrogated, because telomerase mislocalizes from Cajal bodies to nucleoli within the iPSCs.
21602826 2011
×
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
Dyskeratosis Congenita
0.650
Biomarker
CLINGEN
Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
25467444 2014
×
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Usher Syndrome, Type II
0.940
Biomarker
CLINGEN
WHRN (DFNB31 ) mutations cause diverse hearing disorders: profound deafness (DFNB31 ) or variable hearing loss in Usher syndrome type II .27117407 2016
×
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Usher Syndrome, Type II
0.940
Biomarker
CLINGEN
Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.
28254438 2017
×
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Usher Syndrome, Type II
0.940
Biomarker
CLINGEN
Non-USH2A mutations in USH2 patients.
22147658 2012
×
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Usher Syndrome, Type II
0.940
Biomarker
CLINGEN
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
16434480 2006
×
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Usher Syndrome, Type II
0.940
Biomarker
CLINGEN
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
12833159 2003