TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3CA
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PIK3CA
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PIK3CA
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Hyperparakeratosis (HP:0040009)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Focal T2 hypointense brainstem lesion (HP:0012749)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Gynecomastia (HP:0000771)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Venous malformation (HP:0012721)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Venous malformation (HP:0012721)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Venous malformation (HP:0012721)
Associated disease: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH (OMIM:613089)
Gene: PIK3CA
Phenotype: Venous malformation (HP:0012721)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Venous malformation (HP:0012721)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Increased adipose tissue (HP:0009126)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Increased adipose tissue (HP:0009126)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Narrow chest (HP:0000774)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Hematuria (HP:0000790)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Abnormal neuron morphology (HP:0012757)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Retinal cavernous hemangioma (HP:0011513)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Goiter (HP:0000853)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Ovarian serous cystadenoma (HP:0012887)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: PIK3CA
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Edema (HP:0000969)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Epicanthus (HP:0000286)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Full cheeks (HP:0000293)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PIK3CA
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Kyphosis (HP:0002808)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Microcephaly (HP:0000252)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Overgrowth (HP:0001548)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Overgrowth (HP:0001548)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Overgrowth (HP:0001548)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Overgrowth (HP:0001548)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Overgrowth (HP:0001548)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: High palate (HP:0000218)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Meningioma (HP:0002858)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Meningioma (HP:0002858)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Meningioma (HP:0002858)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH (OMIM:613089)
Gene: PIK3CA
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Ascites (HP:0001541)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Hemianopia (HP:0012377)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PIK3CA
Phenotype: Choroidal hemangioma (HP:0007872)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PIK3CA
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Broad forehead (HP:0000337)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)