|
461
|
|
|
Phytanoyl-CoA 2-hydroxylase |
LN1, LNAP1, PAHX, PHYH1, RD |
Cardiomyopathy, Cataract, Congestive heart failure, Developmental regression, Disorder of eye, Hearing loss, Heart block, Hemiplegia/hemiparesis, Ichthyosis, Mental retardation, Microphthalmos, Miosis disorder, Multiple epiphyseal dysplasia, Nail diseases, Nail dysplasia, Nervous system diseases, Nyctalopia, Nystagmus, Osteochondrodysplasia, Ptosis, Refsum disease, Renal insufficiency, Retinal diseases, Retinitis pigmentosa, Rod-cone dystrophy, Sensorimotor neuropathy, Skeletal dysplasiaView all (12 more) |
|
462
|
|
|
Peptidase inhibitor 3 |
ESI, SKALP, WAP3, WFDC14, cementoin |
|
|
463
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class A |
GPI3, MCAHS2, NEDEPH, PIG-A, PNH1 |
Absence of septum pellucidum, Anemia, Aplastic anemia, Atrial septal defect, Central visual impairment, Cerebellar hypoplasia, Cerebral artery stenosis, Cerebral cortical atrophy, Developmental delay, Developmental regression, Dysphagia, Epileptic encephalopathy, Ferrocerebrocutaneous syndrome, High palate, Hydrops fetalis, Hypoplasia of corpus callosum, Hypoplastic anemia, Leukemia, Macrocephaly, Microdontia, Micrognathism, Microstomia, Multiple congenital anomalies-hypotonia-seizures syndrome, Myelodysplasia, Myelodysplastic syndrome, Myocardial infarction, Myoclonic seizures, Paroxysmal cold hemoglobinuria, Paroxysmal hemoglobinuria, Paroxysmal nocturnal hemoglobinuria, Penis agenesis, Pulmonary arterial hypertension, Spasms syndrome, Thrombophilia, Transient ischemic attack, West syndromeView all (21 more) |
|
464
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class C |
GPI2, GPIBD16, MRT62 |
Absence of septum pellucidum, Autism, Central visual impairment, Cerebral atrophy, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dyssomnia, Glycosylphosphatidylinositol deficiency, Hydrops fetalis, Hypoplasia of corpus callosum, Mental retardation, Mental depression, Microcephaly, Motor delay, Non-syndromic intellectual disability, Polymicrogyria, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (6 more) |
|
465
|
|
|
Phosphatidylinositol glycan anchor biosynthesis class H |
GPI-H |
|
|
466
|
|
|
Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
CPK, OCSKD, PI3-K-C2(ALPHA), PI3-K-C2A, PI3K-C2-alpha, PI3K-C2alpha |
Bipolar disorder, Congenital epicanthus, Cryptorchidism, Developmental delay, Dwarfism, Elbow flexion contracture, Glaucoma, Hypercalcemia, Hypodontia, Hypothyroidism, Macroglossia, Mental disorders, Oculocerebrodental syndrome, Oligodontia, Protein-losing enteropathy, Psychosis, Schizophrenia, Scoliosis, Thoracic hypoplasiaView all (4 more) |
|
467
|
|
|
Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma |
PI3K-C2-gamma, PI3K-C2GAMMA |
|
|
468
|
|
|
Phosphatidylinositol 3-kinase catalytic subunit type 3 |
VPS34, Vps34, hVps34 |
|
|
469
|
|
|
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP, MCM, MCMTC, PI3K, PI3K-alpha, p110-alpha |
Adenocarcinoma, Adenoma sebaceum, Adrenocortical carcinoma, Agnosia, Angioid streaks, Anxiety disorder, Arnold-chiari malformation, Attention deficit hyperactivity disorder, Autism, Benign neoplasm of nervous system, Benign neoplasm of stomach, Brachydactyly, Brain neoplasms, Brain stem glioma, Breast adenocarcinoma, Breast cancer, Mammary neoplasms, Breast carcinoma, Cafe-au-lait spot, Capillary malformation, Carcinoma, Carcinoma of the head and neck, Cardiac diverticulum, Cardiovascular abnormalities, Cataract, Cerebellar granule cell hypertrophy and megalencephaly, Cerebelloparenchymal disorder, Uterine cervix neoplasm, Chromophobe carcinoma, Cloves syndrome, Colonic neoplasms, Colorectal cancer, Colorectal neoplasms, Venous malformation, Congenital arteriovenous malformation, Congenital duplication of intestine, Congenital epicanthus, Congenital hemihypertrophy, Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, Congenital macrodactylia, Congenital pectus excavatum, Conjunctival hamartoma, Cortical dysplasia, Cowden syndrome, Cryptorchidism, Cutis marmorata, Developmental delay, Developmental regression, Diaphragmatic eventration, Diffuse lymphoma, Dwarfism, Dysarthria, Dysgerminoma, Dysgraphia, Dyskinetic syndrome, Endometrial cancer, Endometrial carcinoma, Enlarged polycystic ovaries, Epidermal nevus, Epithelial tumor of ovary, Esophageal cancer, Esophageal carcinoma, Fibroadenoma of breast, Follicular thyroid carcinoma, Frontal bossing, Gallbladder cancer, Gastric cancer, Glioblastoma, Glioma, Gynecomastia, Hallucinations, Hamartoma, Hamartomatous polyposis, Head and neck carcinoma, Head and neck neoplasms, Hemangioma, Hemangioma, cavernous, Hemihyperplasia-multiple lipomatosis syndrome, Hemimegalencephaly, Hemiplegia/hemiparesis, Hereditary nonpolyposis colorectal cancer, High palate, Hydrocephalus, Hyperthyroidism, Hypoplasia of the maxilla, Hypothyroidism, Impaired cognition, Intestinal polyposis, Leiomyosarcoma of uterus, Leukemia, Lymphocytic leukemia, Lhermitte-duclos disease, Lipoatrophy, Lipodystrophy, Lipoma, Liver carcinoma, Clapo syndrome, Lung adenocarcinoma, Lung carcinoma, Lung neoplasms, Lung cancer, Lymphoma, Lynch syndrome, Macrocephaly, Macrodactyly, Macrodactyly of toe, Macrodactyly, somatic, Macroglossia, Macrostomia, Malabsorption syndrome, Malformation of cortical development, Head and neck cancer, Malignant neoplasm, Malignant uterine corpus neoplasm, Marfan syndrome, Medulloblastoma, Megalanecephaly polymicrogyria-polydactyly hydrocephalus syndrome, Megalencephaly, Megalencephaly cutis marmorata telangiectatica congenita, Megalencephaly-capillary malformation-polymicrogyria syndrome, Melanocytic nevus, Melanoma, Meningioma, Mental depression, Mental retardation, Micrognathism, Micronodular cirrhosis, Microphthalmos, Microstomia, Microtia, Migraine, Mouth neoplasms, Malignant neoplasm of floor of mouth, Malignant neoplasm of mouth, Multiple congenital anomalies, Multiple lipomata, Multiple myeloma, Myopia, Nasopharyngeal neoplasms, Nasopharyngeal carcinoma, Neoplasm of skeletal system, Neoplasms, Nephroblastoma, Neuroblastoma, Nevus, Nonepidermolytic keratinocytic nevus, Optic atrophy, Ovarian serous cystadenocarcinoma, Ovarian cancer, Ovarian neoplasm, Ovarian carcinoma, Ovarian cysts, Ovarian papillary adenocarcinoma, Overgrowth spectrum, Overgrowth syndrome with fibroadipose hyperplasia, Palmoplantar keratoderma, Palmoplantar keratosis, Pancreatic adenocarcinoma, Papillary renal carcinoma, Papilloma, Penile neoplasms, Penile cancer, Phakomatosis pigmentovascularis, Pituitary adenoma, Plagiocephaly, Polydactyly, Polydactyly of toes, Polymicrogyria, Polyp of large intestine, Prostate adenocarcinoma, Prostatic neoplasms, Prostate cancer, Proteus-like syndrome, Pten hamartoma tumor syndrome with granular cell tumor, Pten hamartoma tumor syndrome, Rectal neoplasms, Renal carcinoma, Rosette-forming glioneuronal neoplasm, Sarcoma, Schizophrenia, Scoliosis, Seborrheic dermatitis, Seborrheic keratosis, Serous cystadenoma of ovary, Oral cavity carcinoma, Stomach neoplasms, Stomach carcinoma, Stroke, Subcutaneous lipoma, Syndactyly, Syndactyly of fingers, Syndactyly of the toes, Testicular hydrocele, Thyroid neoplasm, Thyroid carcinoma, Thyroid gland follicular adenoma, Thyroiditis, Bladder carcinoma, Urologic neoplasms, Varicocele, Ventricular septal defect, Visceral angiomatosis, Vulval varicesView all (188 more) |
|
470
|
|
|
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
P110BETA, PI3K, PI3KBETA, PIK3C1 |
|
