SFTA3, surfactant associated 3, 253970

N. diseases: 6; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Benign hereditary chorea: an update. 21292530 2011
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Benign hereditary chorea: an update. 21292530 2011
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Benign hereditary chorea: an update. 21292530 2011
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 19336474 2009
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 19336474 2009
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 19336474 2009
dbSNP: rs537209983
rs537209983
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C4721429
Disease:
THYROID CANCER, NONMEDULLARY, 1 		0.700 GeneticVariation UNIPROT A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. 19176457 2009
dbSNP: rs863225300
rs863225300
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		T 0.700 CausalMutation CLINVAR A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 18788921 2008
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. 15289765 2004
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Benign hereditary chorea: clinical, genetic, and pathological findings. 12891678 2003
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Benign hereditary chorea: clinical, genetic, and pathological findings. 12891678 2003
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Benign hereditary chorea: clinical, genetic, and pathological findings. 12891678 2003
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. 11854319 2002
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1. 7635972 1995
dbSNP: rs1555349184
rs1555349184
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1. 7635972 1995
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1. 7635972 1995
dbSNP: rs137852693
rs137852693
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852694
rs137852694
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0393584
Disease:
Benign Hereditary Chorea 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555349146
rs1555349146
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C0393584
Disease:
Benign Hereditary Chorea 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555349214
rs1555349214
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1535926
Disease:
Neurodevelopmental Disorders 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555349218
rs1555349218
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		G 0.700 GeneticVariation CLINVAR