rs587776667, PTEN

N. diseases: 14
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 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 6 1997 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 5 1997 2017
Cerebellar Granule Cell Hypertrophy and Megalencephaly
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
56 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
CEREBELLOPARENCHYMAL DISORDER VI
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
56 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
83 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
Proteus-Like Syndrome (disorder)
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
56 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
56 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 1.000 1 2017 2017
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
326 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0