NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.810 CausalMutation CLINVAR
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.810 GeneticVariation UNIPROT
dbSNP: rs104893900
rs104893900
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893905
rs104893905
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893906
rs104893906
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137852683
rs137852683
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852685
rs137852685
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C2673630
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C2673630
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C2673630
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280795
Disease:
HYPOPLASTIC LEFT HEART SYNDROME 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280795
Disease:
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs387906773
rs387906773
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906774
rs387906774
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893901
rs104893901
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104893903
rs104893903
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104893907
rs104893907
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893907
rs104893907
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1184594159
rs1184594159
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3276096
Disease:
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 GeneticVariation UNIPROT
dbSNP: rs137852683
rs137852683
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1833590
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137852686
rs137852686
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1833590
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554093433
rs1554093433
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1839832
Disease:
Noncompaction cardiomyopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554093433
rs1554093433
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0018817
Disease:
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554093433
rs1554093433
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0042510
Disease:
Ventricular Fibrillation 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554093433
rs1554093433
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201442000
rs201442000
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT