rs1064793345, PTEN

N. diseases: 10
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
107 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
58 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
193 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012