Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease 0.700 None 1.000 0 0 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.700 None 0.966 0 0 1997 2020
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.180 None 1.000 0 0 2006 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease 0.500 strong 0.976 0 0 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease 0.700 None 1.000 0 0 1997 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1263023
Disease: Macroorchidism
Macroorchidism
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1519353
Disease: Skin Papule
Skin Papule
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.500 None 1.000 0 0 1998 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1442903
Disease: Exostoses
Exostoses
phenotype 0.100 None 0 0