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: rs1085308039
rs1085308039 		0.925 0.080 10 87933075 stop gained G/T snv
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		0.700 0
dbSNP: rs1085308039
rs1085308039 		0.925 0.080 10 87933075 stop gained G/T snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 0
dbSNP: rs1085308039
rs1085308039 		0.925 0.080 10 87933075 stop gained G/T snv
CUI: C0018932
Disease: Hematochezia
Hematochezia 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1085308039
rs1085308039 		0.925 0.080 10 87933075 stop gained G/T snv
CUI: C4531112
Disease: Penile freckling
Penile freckling 		0.700 0
dbSNP: rs1085308039
rs1085308039 		0.925 0.080 10 87933075 stop gained G/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: rs1085308040
rs1085308040 		0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085308040
rs1085308040 		0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308040
rs1085308040 		0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 0
dbSNP: rs1085308040
rs1085308040 		0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1085308040
rs1085308040 		0.851 0.200 10 87961096 missense variant G/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: rs1085308040
rs1085308040 		0.851 0.200 10 87961096 missense variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C4531112
Disease: Penile freckling
Penile freckling 		0.700 0
dbSNP: rs1085308041
rs1085308041 		0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308042
rs1085308042 		0.882 0.120 10 87894076 missense variant G/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1085308042
rs1085308042 		0.882 0.120 10 87894076 missense variant G/A snv
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1085308042
rs1085308042 		0.882 0.120 10 87894076 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085308042
rs1085308042 		0.882 0.120 10 87894076 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 0
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C0023798
Disease: Lipoma
Lipoma 		Neoplasms 0.700 0
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C4531112
Disease: Penile freckling
Penile freckling 		0.700 0
dbSNP: rs1085308043
rs1085308043 		0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 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