Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. 27568816

2017
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. 27358180

2016
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR KIAA2022 nonsense mutation in a symptomatic female. 26576034

2016
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. 26290131

2015
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. 25900396

2015
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393

2014
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. 23615299

2013
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 23352160

2013
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. 22531377

2012
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. 19524067

2009
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. 15466006

2004