TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3CA
Phenotype: Spinal cord lesion (HP:0100561)
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: Hemihypertrophy of upper limb (HP:0100554)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Asymmetric growth (HP:0100555)
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: Asymmetric growth (HP:0100555)
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: Asymmetric growth (HP:0100555)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Lower limb asymmetry (HP:0100559)
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: Lower limb asymmetry (HP:0100559)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Polydactyly (HP:0010442)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Polydactyly (HP:0010442)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Polydactyly (HP:0010442)
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: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Telangiectasia of the skin (HP:0100585)
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: Lipoatrophy (HP:0100578)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Ulnar deviation of the hand (HP:0009487)
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: Tethered cord (HP:0002144)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Ventriculomegaly (HP:0002119)
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: Status epilepticus (HP:0002133)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Polymicrogyria (HP:0002126)
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: Polymicrogyria (HP:0002126)
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: Polymicrogyria (HP:0002126)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Skin tags (HP:0010609)
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: Skin tags (HP:0010609)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Gliosis (HP:0002171)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Vestibular schwannoma (HP:0009588)
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: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Adrenal calcification (HP:0010512)
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: Abnormal skeletal morphology (HP:0011842)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Paresthesia (HP:0003401)
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: Astrocytoma (HP:0009592)
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: Congenital onset (HP:0003577)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Congenital onset (HP:0003577)
Associated disease: MACRODACTYLY (OMIM:155500)
Gene: PIK3CA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Adult onset (HP:0003581)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Abnormal lymphatic vessel morphology (HP:0100766)
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: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Lymphangioma (HP:0100764)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Large earlobe (HP:0009748)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: 2-4 toe syndactyly (HP:0010714)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Hernia (HP:0100790)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Visceral angiomatosis (HP:0100761)
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: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hyperplasia of the maxilla (HP:0430028)
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: Cavum septum pellucidum (HP:0002389)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Nevus flammeus (HP:0001052)
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: Nevus flammeus (HP:0001052)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Numerous nevi (HP:0001054)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: PIK3CA
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Cavernous hemangioma (HP:0001048)
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: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Hypermelanotic macule (HP:0001034)
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: Subcutaneous lipoma (HP:0001031)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Hemangioma (HP:0001028)
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: Hemangioma (HP:0001028)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Lymphedema (HP:0001004)
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: Lymphedema (HP:0001004)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Headache (HP:0002315)
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 tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Thyroiditis (HP:0100646)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Hemimegalencephaly (HP:0007206)
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: Hemimegalencephaly (HP:0007206)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Cellulitis (HP:0100658)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Epidermal nevus (HP:0010816)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Epidermal nevus (HP:0010816)
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: Epidermal nevus (HP:0010816)
Associated disease: KERATOSIS, SEBORRHEIC (OMIM:182000)
Gene: PIK3CA
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PIK3CA
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Dimple chin (HP:0010751)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Chiari malformation (HP:0002308)
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: Venous thrombosis (HP:0004936)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Abnormal thrombosis (HP:0001977)
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: Optic atrophy (HP:0000648)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Optic atrophy (HP:0000648)
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: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Leukemia (HP:0001909)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Dental malocclusion (HP:0000689)
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)