PTEN, phosphatase and tensin homolog, 5728

N. diseases: 107; N. variants: 343
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 1 21 0.910 None 1.000 19 21 1972 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 1 1 0.410 None 1.000 0 1 2002 2009
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 1 1 0.140 None 1.000 0 1 2001 2014
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 1 1 0.120 None 0.500 0 1 2010 2012
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1 5 0.120 None 0.500 0 5 2010 2012
CUI: C0041657
Disease: Unconscious State
Unconscious State 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 1 0.100 None 0 1
CUI: C0221273
Disease: Juvenile polyp
Juvenile polyp 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 1 1 0.110 None 1.000 0 1 2013 2013
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 1 1 0.700 None 0.967 0 1 1997 2019
CUI: C0343082
Disease: Senile angioma
Senile angioma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 1 0.100 None 0 1
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 1 1 0.110 None 1.000 0 1 2017 2017
CUI: C1262299
Disease: Oral wart
Oral wart 		disease Infections Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 1 1 0.160 None 0.833 0 1 2002 2016
CUI: C1335168
Disease: Ovarian mucinous tumor
Ovarian mucinous tumor 		disease Neoplastic Process 1 1 0.100 None 0 1
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		disease Finding 1 5 0.600 strong 1.000 0 5 1972 2002
CUI: C4531112
Disease: Penile freckling
Penile freckling 		phenotype Anatomical Abnormality 1 11 0.100 None 0 11
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 7 0.610 None 1.000 5 5 1972 2017
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 2 3 0.100 None 1.000 2 1 2011 2014
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 3 0.100 None 0 2
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 2 0.100 None 0 1
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 2 0.100 None 0 1
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 2 0.100 None 0 1
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2 3 0.100 None 0 1