Gene: NEXMIF ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.110 Biomarker disease BEFREE Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. 29717186 2018
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease CLINVAR De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. 27358180 2016
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.110 CausalMutation disease CLINVAR KIAA2022 nonsense mutation in a symptomatic female. 26576034 2016
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.110 CausalMutation disease CLINVAR X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. 26290131 2015
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease CLINVAR Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 23352160 2013
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease 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 		0.110 CausalMutation disease CLINVAR Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. 15466006 2004