Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
|
28263850 |
2017 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.
|
28263850 |
2017 |
Waardenburg Syndrome, Type 4b
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
|
27018795 |
2016 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.
|
22876130 |
2012 |
Waardenburg Syndrome, Type 4b
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Review and update of mutations causing Waardenburg syndrome.
|
20127975 |
2010 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
|
19764030 |
2009 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
|
19764030 |
2009 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.
|
17516928 |
2007 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.
|
17516928 |
2007 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
MGD |
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.
|
17516928 |
2007 |
Waardenburg Syndrome, Type 4b
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.
|
12189494 |
2002 |
Waardenburg Syndrome, Type 4b
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
|
11303518 |
2001 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
|
11303518 |
2001 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease.
|
10231870 |
1999 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
|
9359047 |
1998 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
|
8630502 |
1996 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
|
8630502 |
1996 |
Waardenburg Syndrome, Type 4b
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
|
8630503 |
1996 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.
|
8001160 |
1994 |
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
MGD |
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.
|
8001160 |
1994 |
Waardenburg Syndrome, Type 4b
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Waardenburg Syndrome, Type 4b
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mice with deletions of the endothelin-3 gene (lethal spotted mice, ls/ls) develop congenital aganglionosis.
|
21320883 |
2011 |
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, based on the haplotype distribution, EDN3 might be considered as a common susceptibility gene for sporadic Hirschsprung disease in a low-penetrance fashion.
|
20009762 |
2010 |
Hirschsprung Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The findings suggest that both RET and NTRK3 mutations acting together are necessary and sufficient for the appearance of the disease, and that the EDN3 mutation is acting as a phenotype-modifier factor in the context of this family, as two different HSCR phenotypes are seen among the affected members: a short segment form, and a total colonic aganglionosis.
|
19556619 |
2009 |