rs121913293, PTEN

N. diseases: 18
Source: ALL
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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 7 2000 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 6 2000 2015
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
MACROCEPHALY/AUTISM SYNDROME
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
21 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
VACTERL Association With Hydrocephalus
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
7 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 5 2007 2017
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 1.000 1 2014 2014
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
GLIOMA SUSCEPTIBILITY 2
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
6 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
16 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0