NODAL, nodal growth differentiation factor, 4838

N. diseases: 89; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.800 GeneticVariation UNIPROT Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 19064609 2009
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.800 GeneticVariation UNIPROT X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Non-cardiac issues in patients with heterotaxy syndrome. 25298693 2014
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Novel mutations of NODAL gene in Chinese patients with congenital heart disease. 22352765 2012
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Familial transposition of the great arteries caused by multiple mutations in laterality genes. 19933292 2010
dbSNP: rs104894169
rs104894169
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.700 GeneticVariation UNIPROT Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 19064609 2009
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 19064609 2009
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. 19553149 2009
dbSNP: rs781366461
rs781366461
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.700 GeneticVariation UNIPROT Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 19064609 2009
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Heterotaxia syndromes and their abdominal manifestations. 16721152 2006
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Nodal signaling in early vertebrate embryos: themes and variations. 11709181 2001
dbSNP: rs104894169
rs104894169
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.700 GeneticVariation UNIPROT X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
dbSNP: rs781366461
rs781366461
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.700 GeneticVariation UNIPROT X-linked situs abnormalities result from mutations in ZIC3. 9354794 1997
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. 8610013 1996
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation. 8429908 1993
dbSNP: rs10999334
rs10999334
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.700 GeneticVariation UNIPROT
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3178805
Disease:
Heterotaxy Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121909283
rs121909283
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0043202
Disease:
Wolff-Parkinson-White Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1310479365
rs1310479365
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		0.700 GeneticVariation UNIPROT
dbSNP: rs1564667180
rs1564667180
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1564667617
rs1564667617
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3495537
Disease:
Heterotaxy, Visceral, 5, Autosomal 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs555563029
rs555563029
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C3178805
Disease:
Heterotaxy Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs755116310
rs755116310
Entrez Id: 4838
Gene Symbol: NODAL
NODAL
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT