PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs11202592
rs11202592 		0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1554890324
rs1554890324 		1.000 0.080 10 87864470 start lost A/G snv
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs121913290
rs121913290 		1.000 0.080 10 87864485 frameshift variant AA/-;AAA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs121913290
rs121913290 		1.000 0.080 10 87864485 frameshift variant AA/-;AAA delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs786204882
rs786204882 		10 87864489 frameshift variant GATCGTTAGCAGAAACA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308044
rs1085308044 		0.882 0.120 10 87864504 missense variant A/C snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2000 2000
dbSNP: rs1554890348
rs1554890348 		1.000 0.080 10 87864506 stop gained A/T snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs587776671
rs587776671 		0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1114167625
rs1114167625 		10 87864508 inframe deletion AAG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308047
rs1085308047 		0.827 0.160 10 87864509 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0