NFIX, nuclear factor I X, 4784

N. diseases: 183; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907254
rs387907254
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
dbSNP: rs387907254
rs387907254
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387907254
rs387907254
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 26193383 2015
dbSNP: rs387907254
rs387907254
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 22301465 2012
dbSNP: rs387907254
rs387907254
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
dbSNP: rs387907255
rs387907255
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387907255
rs387907255
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
dbSNP: rs387907255
rs387907255
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
dbSNP: rs387907255
rs387907255
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 22301465 2012
dbSNP: rs387907255
rs387907255
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		0.800 GeneticVariation UNIPROT NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. 26193383 2015
dbSNP: rs10411958
rs10411958
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs10413329
rs10413329
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs1135401802
rs1135401802
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs11555274
rs11555274
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0021704
Disease:
Intelligence 		C 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs117533700
rs117533700
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0750880
Disease:
Monocyte count result 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs117533700
rs117533700
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0200637
Disease:
Monocyte count procedure 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1555696597
rs1555696597
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555696611
rs1555696611
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0265211
Disease:
Marshall-Smith syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555696611
rs1555696611
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C3553660
Disease:
Malan overgrowth syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0542514
Disease:
Blue sclera 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C2315100
Disease:
Pediatric failure to thrive 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0175754
Disease:
Agenesis of corpus callosum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C1837260
Disease:
Prominent forehead 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555696625
rs1555696625
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0264303
Disease:
Laryngomalacia 		A 0.700 CausalMutation CLINVAR