TaoMedAI/RareMedData huggingface dataset:
Gene: PTEN
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Neoplasm of the adrenal cortex (HP:0100641)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Hemangioblastoma (HP:0010797)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Refractory anemia (HP:0005505)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Anemia (HP:0001903)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Broad thumb (HP:0011304)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Broad thumb (HP:0011304)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Short stature (HP:0004322)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Short stature (HP:0004322)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: PTEN
Phenotype: Cachexia (HP:0004326)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Cachexia (HP:0004326)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Gynecomastia (HP:0000771)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Short attention span (HP:0000736)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Autism (HP:0000717)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Carcinoma (HP:0030731)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Myopathy (HP:0003198)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Short nose (HP:0003196)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Short nose (HP:0003196)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Short nose (HP:0003196)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Varicocele (HP:0012871)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Trichilemmoma (HP:0012844)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Goiter (HP:0000853)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Abnormality of the parathyroid gland (HP:0000828)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Cutis laxa (HP:0000973)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Epicanthus (HP:0000286)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Kyphosis (HP:0002808)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos disease; LDD (ORPHA:65285)
Gene: PTEN
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Overgrowth (HP:0001548)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: High palate (HP:0000218)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: High palate (HP:0000218)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Meningioma (HP:0002858)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Meningioma (HP:0002858)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Meningioma (HP:0002858)
Associated disease: GLIOMA SUSCEPTIBILITY 2 (OMIM:613028)
Gene: PTEN
Phenotype: Meningioma (HP:0002858)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: PTEN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Obesity (HP:0001513)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Speech apraxia (HP:0011098)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: PTEN
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Low-set ears (HP:0000369)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Long philtrum (HP:0000343)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Long philtrum (HP:0000343)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Penile freckling (HP:0031447)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Penile freckling (HP:0031447)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Broad forehead (HP:0000337)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Micrognathia (HP:0000347)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Short chin (HP:0000331)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Midclavicular hypoplasia (HP:0006608)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Macrotia (HP:0000400)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Venous insufficiency (HP:0005293)
Associated disease: SOLAMEN syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (ORPHA:137608)
Gene: PTEN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Freckled genitalia (HP:0030257)
Associated disease: Juvenile polyposis of infancy; Infantile juvenile polyposis syndrome (ORPHA:79076)
Gene: PTEN
Phenotype: Wide nose (HP:0000445)
Associated disease: Myhre-Riley-Smith syndrome; Bannayan-Riley-Ruvalcaba syndrome; BRRS (ORPHA:109)
Gene: PTEN
Phenotype: Late young adult onset (HP:0025710)
Associated disease: GLIOMA SUSCEPTIBILITY 2 (OMIM:613028)
Gene: PTEN
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)
Gene: PTEN
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: PTEN
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: MACROCEPHALY/AUTISM SYNDROME (OMIM:605309)
Gene: PTEN
Phenotype: Hurthle cell thyroid adenoma (HP:0006781)
Associated disease: Macrocephaly-intellectual disability-autism syndrome (ORPHA:210548)
Gene: PTEN
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: PTEN
Phenotype: Cataract (HP:0000518)
Associated disease: Proteus-like syndrome (ORPHA:2969)
Gene: PTEN
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PTEN
Phenotype: Cataract (HP:0000518)
Associated disease: COWDEN SYNDROME 1 (OMIM:158350)