PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Congenital arteriovenous malformation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909224
rs121909224
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0003857
Disease:
Congenital arteriovenous malformation 		0.010 GeneticVariation BEFREE Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. 10749983 2000
dbSNP: rs121909231
rs121909231
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0003857
Disease:
Congenital arteriovenous malformation 		0.010 GeneticVariation BEFREE Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. 10749983 2000