POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1386253973
rs1386253973
Entrez Id: 728378
Gene Symbol: POTEF
POTEF
CUI: C2733158
Disease:
Cerebral Small Vessel Diseases 		0.010 GeneticVariation BEFREE Larger population studies are needed to confirm these findings and to test the hypothesis that the GLA g.1170C>T may contribute to the multifactorial risk of ischaemic small-vessel cerebrovascular disease. 18979178 2008
dbSNP: rs551990652
rs551990652
Entrez Id: 728378
Gene Symbol: POTEF
POTEF
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE Two missense mutations (A53T and A30P) in the gene encoding the presynaptic protein alpha-synuclein (asyn) are associated with rare, dominantly inherited forms of Parkinson's disease (PD) and its accumulation in Lewy bodies and Lewy neurites. 16908976 2004