TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Episodic vomiting (HP:0002572)
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: Finger syndactyly (HP:0006101)
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: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
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: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Lower limb muscle weakness (HP:0007340)
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 muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
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: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Increased intracranial pressure (HP:0002516)
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: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Tall stature (HP:0000098)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Tall stature (HP:0000098)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Typically de novo (HP:0025352)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 4 (OMIM:619538)
Gene: PIK3CA
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Lipoma (HP:0012032)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Lipoma (HP:0012032)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hip dysplasia (HP:0001385)
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: Joint hypermobility (HP:0001382)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Joint hypermobility (HP:0001382)
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: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Neoplasm (HP:0002664)
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: Muscle weakness (HP:0001324)
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: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Cerebral hemorrhage (HP:0001342)
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: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Nephroblastoma (HP:0002667)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PIK3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 4 (OMIM:619538)
Gene: PIK3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PIK3CA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PIK3CA
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Hypoesthesia (HP:0033748)
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: Cerebral ischemia (HP:0002637)
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: Pachygyria (HP:0001302)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Varicose veins (HP:0002619)
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: Varicose veins (HP:0002619)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Abnormal venous morphology (HP:0002624)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Acral overgrowth (HP:0033794)
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: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Testicular lipomatosis (HP:0025476)
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 mouth (HP:0000160)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: PIK3CA
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Wide mouth (HP:0000154)
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 nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: PIK3CA
Phenotype: Seborrheic keratosis (HP:0031287)
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: Seborrheic keratosis (HP:0031287)
Associated disease: KERATOSIS, SEBORRHEIC (OMIM:182000)
Gene: PIK3CA
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MACRODACTYLY (OMIM:155500)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
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: Typified by somatic mosaicism (HP:0001442)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: KERATOSIS, SEBORRHEIC (OMIM:182000)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEMIFACIAL MYOHYPERPLASIA (OMIM:606773)
Gene: PIK3CA
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: NEVUS, EPIDERMAL (OMIM:162900)
Gene: PIK3CA
Phenotype: Renal cyst (HP:0000107)
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: Enlarged kidney (HP:0000105)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PIK3CA
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: PIK3CA
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Constipation (HP:0002019)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Frontal bossing (HP:0002007)
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: Hemihypertrophy of lower limb (HP:0100553)
Associated disease: CLAPO syndrome (ORPHA:168984)
Gene: PIK3CA
Phenotype: Intention tremor (HP:0002080)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Cognitive impairment (HP:0100543)
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: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Gene: PIK3CA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Klippel-Trénaunay syndrome (ORPHA:90308)