1031
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Piezo type mechanosensitive ion channel component 2 |
C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS |
Curated: Androgenetic alopecia, Arthrogryposis multiplex congenita, Arthrogryposis with oculomotor limitation and retinal anomalies, Distal arthrogryposis, Carotid artery disease, Central nervous system cancer, Cerebral palsy, Color vision deficiency, Congenital joint contractures, Connective tissue disease, Dental caries, Diverticular disease, Gorlin syndrome, Heterotaxy syndrome, Iga nephropathy, Larsen syndrome, Major depressive disorder, Myopathy, Non-small cell lung carcinoma, Oligodendroglioma, Osteoporosis, Pena-shokeir syndrome , Pulmonary edema, Schizophrenia, Scoliosis
Unreviewed: Absence Of Septum Pellucidum, Acquired Kyphoscoliosis, Agenesis Of Corpus Callosum, Anterior cruciate ligament injury, Anxiety disorder, Arachnodactyly, Arthrogryposis, Arthrogryposis, With Impaired Proprioception And Touch, Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome, Astigmatism, Attention Deficit Hyperactivity Disorder, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Bloom syndrome, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Cerebellar Hypoplasia, Cleft palate, Clinodactyly, Congenital Camptodactyly, Congenital Clubfoot, Congenital contracture, Congenital Epicanthus, Congenital finger flexion contractures, Congenital Keratoglobus, Congenital kyphoscoliosis, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Connective Tissue Disease, Contracture, Cryptorchidism, Dandy-Walker Syndrome, Dermatitis, Developmental Delay, Developmental dysplasia of the hip, Dextrocardia, Diabetes Mellitus, Duane Retraction Syndrome, Dwarfism, Dysarthria, Dysmorphic Features, Epispadias, Glioma, Gordon syndrome, High palate, Hydrocephalus, Hydronephrosis, Hypospadias, Hypotonia, Irritable Bowel Syndrome, Keratoconus, Lung carcinoma, Lung disease, Macrotia, Malignant Neoplasm, Mallet finger, Marden-Walker Syndrome, Mental retardation, Merkel cell carcinoma, Microcephaly, Micrognathism, Microphthalmos, Microstomia, Motor delay, Multicystic renal dysplasia, Multiple Congenital Anomalies, Muscular dystrophy, Neoplasms, Oculomelic Amyoplasia, Optic Atrophy, Penis Agenesis, Posteriorly Rotated Ear, Pseudohypoaldosteronism, Ptosis, Pulmonary hypoplasia, Radioulnar Synostosis, Renal agenesis, Renal dysplasia, Renal hypoplasia, Respiratory Failure, Sheldon-Hall syndrome, Situs Inversus, Specific Learning Disorder, Spondylolysis, Stomach neoplasms, Strabismus, Submucosal cleft palate, Syndactyly of fingers, Talipes, Thoracolumbar scoliosis, Triple negative breast cancer, Urinary bladder cancer, Ventricular septal defect, Zollinger-Ellison syndrome
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1032
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PIF1 5'-to-3' DNA helicase |
C15orf20, PIF |
Curated: N/A
Unreviewed: Alzheimer disease, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cerebral palsy, Congestive Heart Failure, Dental caries, Epileptic Encephalopathy, Fatty Liver, Fuchs endothelial dystrophy, Heart disease, Heart Failure, Hypoxia, Lung neoplasms, Neoplasms, Opitz GBBB Syndrome, X-Linked, Ovarian neoplasm, Parkinson disease, Prostate cancer, Pulmonary arterial hypertension
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1033
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Phosphatidylinositol glycan anchor biosynthesis class A |
GPI3, MCAHS2, NEDEPH, PIG-A, PNH1 |
Curated: Cold paroxysmal hemoglobinuria, Neurodevelopmental disorder, Epilepsy of infancy with migrating focal seizures, Developmental and epileptic encephalopathy, Hemoglobinuria paroxysmal, Intellectual developmental disorder, Malignant migrating partial seizures of infancy, Non-specific syndromic intellectual disability, Occupational disease, Paroxysmal nocturnal hemoglobinuria, West syndrome, complex neurodevelopmental disorder
Unreviewed: Absence Of Septum Pellucidum, Anemia, Aplastic anemia, Atrial Septal Defect, Autoimmune Diseases, Barrett esophagus, Bone marrow diseases, Bone marrow failure syndrome, Bone marrow failure syndromes, Brain disease, Burkitt`s Lymphoma, CD59 Deficiency, Central nervous system disease, Central Visual Impairment, Cerebellar Hypoplasia, Cerebral artery stenosis, Cerebral cortical atrophy, Congenital abnormalities, Congenital Chromosomal Disease, Congenital disorder of glycosylation, Congenital Malformation Syndrome, Contracture, Development Disorder, Developmental Delay, Developmental disability, Developmental regression, Dyslipidemias, Dysmorphism, Dysphagia, Epilepsy, Epileptic encephalopathy, Esophageal Cancer, Ferrocerebrocutaneous Syndrome, Gastroesophageal Reflux Disease, Growth disorder, Hearing loss, Hearing loss with stapes fixation, Hematologic disease, Hematological Disease, Hemolysis, Hemolytic Uremic Syndrome, High palate, Hirschsprung Disease, Hydrops Fetalis, Hypoplasia Of Corpus Callosum, Hypoplastic anemia, Infantile spasms, Inflammatory Bowel Disease, Intervertebral disc disease, Intravascular Hemolysis, Iron Overload, Leukemia, Liver failure, Macrocephaly, Malignant Neoplasm, Maple syrup urine disease, Mental retardation, Microdontia, Micrognathism, Microstomia, Miller Dieker Syndrome, Mitochondrial complex deficiency, Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Multiple myeloma, Myelodysplasia, Myelodysplastic Syndrome, Myeloproliferative disorder, Myocardial Infarction, Myoclonic Encephalopathy, Myoclonic Seizures, Nervous system disease, Neurodegenerative disorder, Oculocerebrorenal syndrome, Pancreatic neoplasm, Paroxysmal cold hemoglobinuria, Paroxysmal Hemoglobinuria, Penis Agenesis, Pulmonary arterial hypertension, Seizures, Simpson-Golabi-Behmel Syndrome, Spasms Syndrome, Sveinsson chorioretinal atrophy, Thrombocytopenia, Thrombophilia, Thrombotic Microangiopathies, Transient Ischemic Attack, Trichohepatoenteric Syndrome, Venous thrombosis, West Syndrome
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1034
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Phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1 |
PIG-A-II |
Curated: N/A
Unreviewed: N/A
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1035
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Phosphatidylinositol glycan anchor biosynthesis class B |
DEE80, EIEE80, GPI-MT-III, PIG-B |
Curated: Developmental and epileptic encephalopathy, Hyperphosphatasia with intellectual disability syndrome, developmental and epileptic encephalopathy, 80
Unreviewed: Autism, Developmental Delay, Intellectual developmental disorder, Mental retardation, Metabolic syndrome, Peripheral nervous system disease, Seizures
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1036
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PIGB opposite strand 1 |
HP06981 |
Curated: N/A
Unreviewed: N/A
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1037
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Phosphatidylinositol glycan anchor biosynthesis class C |
GPI2, GPIBD16, MRT62 |
Curated: Nonsyndromic intellectual disability, Global developmental delay, Glycosylphosphatidylinositol biosynthesis defect, Non-immune hydrops fetalis, Metabolic syndrome, Nonalcoholic fatty liver disease, Open angle glaucoma, Diabetes mellitus type 2, congenital disorder of glycosylation
Unreviewed: Absence Of Septum Pellucidum, Autism, Central Visual Impairment, Cerebral Atrophy, Cortical Dysplasia, Developmental Delay, Dyskinetic Syndrome, Dyssomnia, Glycosylphosphatidylinositol deficiency, Hepatocellular carcinoma, Hydrops Fetalis, Hypoplasia Of Corpus Callosum, Mental Depression, Mental retardation, Microcephaly, Motor delay, Non-Syndromic Intellectual Disability, Parkinson disease, Polymicrogyria, Salaam Seizures, Seizure, Sleep Disorders, Stereotyped Behavior
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1038
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Phosphatidylinositol glycan anchor biosynthesis class C pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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1039
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Phosphatidylinositol glycan anchor biosynthesis class C pseudogene 2 |
- |
Curated: N/A
Unreviewed: N/A
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1040
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Phosphatidylinositol glycan anchor biosynthesis class F |
OORS |
Curated: congenital disorder of glycosylation
Unreviewed: Chronic disease, Colorectal Cancer, Colorectal neoplasm, Congestive Heart Failure, Coronary Heart Disease, Heart Failure, Hemangioma, Lupus Erythematosus, Melanoma, Miscarriage, Neoplasms, Obesity, Osteosarcoma, Paroxysmal nocturnal hemoglobinuria, Retinoblastoma, Schwannomatosis, Systemic lupus erythematosus, Thymoma, Tumor
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