Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777034
rs587777034
Entrez Id: 3796;27292
Gene Symbol: KIF2A;DIMT1
KIF2A;DIMT1
CUI: C0266463
Disease:
Lissencephaly 		0.010 GeneticVariation BEFREE Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. 27747449 2017
dbSNP: rs1229237874
rs1229237874
Entrez Id: 3796;27292
Gene Symbol: KIF2A;DIMT1
KIF2A;DIMT1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.010 GeneticVariation BEFREE Here we demonstrated that, starting from the pre-onset stage of FALS, misfolded SOD1 species associates specifically with kinesin-associated protein 3 (KAP3) in the ventral white matter of SOD1(G93A)-transgenic mouse spinal cord. 19088126 2009