Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | CausalMutation | phenotype | CLINVAR | De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. | 27568816 | 2017 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | KIAA2022 nonsense mutation in a symptomatic female. | 26576034 | 2016 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. | 27358180 | 2016 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. | 26290131 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. | 25900396 | 2015 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. | 24307393 | 2014 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. | 23615299 | 2013 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. | 23352160 | 2013 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. | 22531377 | 2012 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. | 19524067 | 2009 | ||||
|
0.100 | CausalMutation | phenotype | CLINVAR | Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. | 15466006 | 2004 |