Gene: NEXMIF ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. 27568816

2017
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. 27568816

2017
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR KIAA2022 nonsense mutation in a symptomatic female. 26576034

2016
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. 27358180

2016
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR KIAA2022 nonsense mutation in a symptomatic female. 26576034

2016
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. 27358180

2016
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. 26290131

2015
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. 25900396

2015
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. 26290131

2015
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. 25900396

2015
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393

2014
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393

2014
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 23352160

2013
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. 23615299

2013
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 23352160

2013
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. 23615299

2013
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. 22531377

2012
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. 22531377

2012
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. 19524067

2009
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. 19524067

2009
dbSNP: rs786205208
rs786205208
NEXMIF
A 0.700 CausalMutation CLINVAR Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. 15466006

2004
dbSNP: rs886041701
rs886041701
NEXMIF
A 0.700 CausalMutation CLINVAR Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. 15466006

2004