NFIX, nuclear factor I X, 4784

N. diseases: 23; N. variants: 25
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease CLINVAR We report six additional patients with Malan syndrome and de novo NFIX deletions or sequence variants and review the 20 patients now reported. 25118028 2015
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 CausalMutation disease CLINVAR DIAMUND: direct comparison of genomes to detect mutations. 24375697 2014
CUI: C3553660
Disease: Malan overgrowth syndrome
Malan overgrowth syndrome 		0.790 GeneticVariation disease CLINVAR Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		0.740 GeneticVariation disease CLINVAR Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. 26200704 2015
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		0.740 GeneticVariation disease CLINVAR Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. 25118028 2015
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		0.740 GeneticVariation disease CLINVAR Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863 2010
CUI: C0265211
Disease: Marshall-Smith syndrome
Marshall-Smith syndrome 		0.740 CausalMutation disease CLINVAR
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 GeneticVariation disease CLINVAR
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 GeneticVariation disease CLINVAR
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 CausalMutation disease CLINVAR
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.100 GeneticVariation disease CLINVAR
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.100 CausalMutation disease CLINVAR
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation disease CLINVAR
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.100 GeneticVariation disease CLINVAR
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 CausalMutation phenotype CLINVAR
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C1833145
Disease: Distal ulnar hypoplasia
Distal ulnar hypoplasia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 CausalMutation phenotype CLINVAR
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.100 GeneticVariation phenotype CLINVAR