TPX2, TPX2 microtubule nucleation factor, 22974

N. diseases: 122; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6060912
rs6060912
Entrez Id: 22974
Gene Symbol: TPX2
TPX2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs769867284
rs769867284
Entrez Id: 22974
Gene Symbol: TPX2
TPX2
CUI: C0751587
Disease:
CADASIL Syndrome 		0.010 GeneticVariation BEFREE The diagnosis of CADASIL was confirmed by molecular analysis (heterozygotes for the C406T mutation on exon 3 of the Notch3 gene). 15096408 2004