1481
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Polo like kinase 4 |
MCCRP2, SAK, STK18 |
Curated: Chorioretinopathy with microcephaly, Desbuquois syndrome, Dwarfism, Eye disease, Microcephaly, Optic atrophy, Retinitis pigmentosa, Seckel syndrome
Unreviewed: Aneuploidy, Azoospermia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Cataract, Cerebellar atrophy, Cerebral Atrophy, Cerebral cortical atrophy, Chorioretinopathy-Microcephaly Syndrome, Ciliary dyskinesia, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Microcephaly, Costello syndrome, Craniosynostosis, Cryptorchidism, Cystic Kidney Disease, Developmental Delay, Diabetes mellitus, type 2, Embryonal Neoplasm, Epithelial ovarian carcinoma, Eye Diseases, Glaucoma, Glioblastoma, Glioma, Growth disorder, Hematologic Neoplasms, Hepatocellular carcinoma, Hyperlipidemia, Hypoxia, Impaired Cognition, Leukemia, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Malformation of cortical development, Malignant Neoplasm, Mammary Neoplasms, Medulloblastoma, Melanoma, Mental retardation, Microcephaly with Chorioretinopathy, Microcornea, Micrognathism, Microlissencephaly, Microphthalmos, Miscarriage, Multiple myeloma, Myelodysplastic Syndrome, Neoplasms, Neuroblastoma, Non-Alcoholic Fatty Liver Disease, Nonobstructive azoospermia, Nystagmus, Optic Atrophy, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pituitary dwarfism, Primary microcephaly, Prostate cancer, Prostatic neoplasm, Renal cell carcinoma, Rhabdoid Tumor, Scoliosis, Seckel Syndrome, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Thyroid cancer, Urinary bladder cancer
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1482
|
|
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Polo like kinase 5 (inactive) |
PLK-5, PLK5P, SgK384ps |
Curated: N/A
Unreviewed: Astrocytoma, Basal cell carcinoma, Brain Neoplasms, Glioblastoma, Lymphatic Metastasis, Neoplasms, Renal Carcinoma, Renal cell carcinoma
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1483
|
|
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Plasmolipin |
PMLP, TM4SF11 |
Curated: Mesothelioma, Metabolic syndrome, Schizophrenia, Diabetes mellitus type 2
Unreviewed: Bardet-Biedl Syndrome, Bipolar disorder, Demyelinating neuropathy, Focal cortical dysplasia, Hematuria, Keratoconus, Malignant Mesothelioma, Retinal Dystrophy, Retinitis Pigmentosa With Or Without Situs Inversus
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1484
|
|
|
PLLP pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1485
|
|
|
Phospholamban |
CMD1P, CMH18, PLB |
Curated: Cardiac arrhythmia, Arrhythmogenic right ventricular cardiomyopathy, Atrial fibrillation, Cardiac arrest, Cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial infarction, Ventricular dysfunction, intrinsic cardiomyopathy
Unreviewed: Atrial Fibrillation, Calcium metabolism disorders, Cardiac arrhythmias, Cardiomegaly, Cardiovascular disease, Cardiovascular Diseases, Cleft palate, Congenital heart defect, Congenital heart defects, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary Heart Disease, Crisponi syndrome, Diabetes, Diabetes Mellitus, Diabetic cardiomyopathy, Dilated Cardiomyopathy, Distal hereditary motor neuropathy, Duchenne Muscular Dystrophy, Endometrial neoplasm, Endometriosis, Eosinophilia, Epilepsy, Fatty liver, Granulomatous Disease, Hearing Loss, Heart disease, Heart Failure, Hepatocellular carcinoma, Hibernation, Myocardial, Hyperlipoproteinemia, Hypertension, Hypoplastic Left Heart Syndrome, Hypoxia, Iron overload, Ischemic myocardial dysfunction, Kidney failure, Left Ventricular Hypertrophy, Leopard syndrome, Leukemia, Lipoatrophy, Lipodystrophy, Lipoma, Myocardial Infarction, Myocardial Ischemia, Myocardial Stunning, Myofibrillar myopathy, Myopathy, Neoplasms, Palmoplantar keratoderma, Paroxysmal atrial fibrillation, Paroxysmal ventricular fibrillation, Prostate cancer, Pulmonary arterial hypertension, Pulmonary Fibrosis, Squamous cell carcinoma, Stunned Myocardium, Tetralogy of Fallot, Ventricular arrhythmia, Ventricular ectopy, Ventricular remodeling, Ventricular septal defect, Ventricular tachycardia
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1486
|
|
|
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
EDS6, EDSKCL1, LH, LH1, LLH, PLOD |
Curated: Alzheimer disease, Byzanthine arch palate, Congenital contractural arachnodactyly, Congenital omphalocele, Deep vein thrombosis, Desbuquois syndrome, Ehlers-danlos syndrome, Thoracic aortic aneurysm and aortic dissection, Hydrocephalus, Keratoconus, Mitral valve prolapse, Moyamoya disease, Myopathy, Osteoarthritis, Psoriasis, Psoriasis vulgaris
Unreviewed: Acquired Kyphoscoliosis, Aortic Aneurysm, Aortic dissection, Arachnodactyly, Axenfeld anomaly, Bicuspid aortic valve, Bladder carcinoma, Bladder Diverticulum, Bladder Neoplasm, Bone fragility with contractures, arterial rupture, and deafness, Breast Cancer, Bronchitis, Bruck syndrome, Colonic Neoplasms, Colorectal Cancer, Congenital Clubfoot, Congenital Epicanthus, Congenital kyphoscoliosis, Congenital Scoliosis, Congestive Heart Failure, Connective Tissue Disease, Corneal Dystrophy, Cryptorchidism, Cystic Fibrosis, Dolichocephaly, Ehlers-Danlos Syndrome, Esophagus Neoplasm, Gastrointestinal carcinoma, Gastroschisis, Glaucoma, Globe Rupture, Hepatolenticular degeneration, Hereditary motor and sensory neuropathies, High palate, Hypertension, Hypotonia, Hypoxia, Kidney neoplasm, Kyphoscoliotic Ehlers-Danlos Syndrome, Liver carcinoma, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Microcornea, Mitral Valve Prolapse, Motor delay, Moyamoya Disease, Myopia, Neoplasms, Nevo Syndrome, Osteoporosis, Osteosarcoma, Porencephalic cyst, Prostatic neoplasm, Pulmonary Fibrosis, Renal Carcinoma, Renal cell carcinoma, Retinal Detachment, Retinal Diseases, Rhabdoid tumor, Rieger syndrome, Rupture Of Artery, Sarcoma, Scoliosis, Stomach neoplasms, Subcutaneous hemorrhage, Thoracic Aortic Aneurysm And Aortic Dissection, Thoracolumbar scoliosis, Urinary bladder cancer, Urinary bladder neoplasms, Vascular disease
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1487
|
|
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Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
BRKS2, LH2, TLH |
Curated: Juvenile arthritis, Bone fragility with contractures, arterial rupture, and deafness, Bone neoplasms, Bowed long bones, Bruck syndrome, Buruli ulcer, Cleft palate, Congenital camptodactyly, Congenital clubfoot, Congenital hypoplasia of femur, Desbuquois syndrome, Juvenile idiopathic arthritis, Liver cirrhosis, Obesity, Osteoarthritis, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome, Oligoarticular juvenile idiopathic arthritis, Psoriasis
Unreviewed: Arthritis, Arthrogryposis multiplex congenita, Biliary Tract Cancer, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Bruck Syndrome, Camptodactyly, Carcinogenesis, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cleft Soft Palate, Colorectal Cancer, Colorectal neoplasm, Complete Atrioventricular Canal Defect, Congenital Arteriovenous Malformation, Congenital Camptodactyly, Congenital Clubfoot, Congenital contracture, Congenital Pectus Carinatum, Connective Tissue Disease, Diffuse Lymphoma, Dwarfism, Ehlers-Danlos Syndrome, Elbow flexion contracture, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Extranodal NK T Cell Lymphoma, Glioblastoma, Glioma, Hepatocellular carcinoma, Hypoxia, Kidney neoplasm, Laryngeal Carcinoma, Laryngeal neoplasm, Larynx cancer, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lymphatic metastasis, Malignant Bone Neoplasm, Malignant Neoplasm, Neoplasms, Osteoarthrosis Deformans, Osteogenesis Imperfecta, Osteopenia, Osteoporosis, Osteosarcoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Polyarthritis, Rheumatoid Factor Positive, Pterygium, Renal Carcinoma, Renal cell carcinoma, Sarcoma, Scleroderma, Scoliosis, Seronegative polyarthritis, Short femur, Squamous cell carcinoma, Still Disease, Stomach Carcinoma, Stomach Neoplasms, Systemic sclerosis, Thrombosis, Urinary bladder cancer, Urinary bladder neoplasms, Uterine Diseases, Uterine neoplasm
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1488
|
|
|
Procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
BCARD, LH3 |
Curated: Bone fragility with contractures, arterial rupture, and deafness, Cerebral amyloid angiopathy, Connective tissue disease, Larsen syndrome, Marshall syndrome, Osteoporosis-pseudoglioma syndrome
Unreviewed: Blister, Bone Fragility With Contractures, Arterial Rupture, And Deafness, Bronchopulmonary Dysplasia, Carcinogenesis, Cataract, Colonic neoplasm, Colorectal neoplasm, Congenital Clubfoot, Connective Tissue Disease, Developmental Delay, Diaphragmatic Eventration, Dystrophic epidermolysis bullosa, Elbow flexion contracture, Endometrial neoplasm, Epidermolysis Bullosa, Epidermolysis Bullosa Simplex, Esophagus Neoplasm, Gamma-Glutamyltransferase Deficiency, Glioblastoma, Glioma, Hepatocellular carcinoma, Intracranial aneurysm, Intracranial hemorrhage, Kidney neoplasm, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphoma, Malignant Neoplasm, Myopia, Nail Diseases, Nail dysplasia, Neoplasms, Osteogenesis imperfecta, Osteopenia, Prostatic neoplasm, Renal cell carcinoma, Rupture Of Artery, Sarcoma, Scoliosis, Stomach neoplasms, Thoracic Aortic Aneurysm And Aortic Dissection, Uterine neoplasm
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1489
|
|
|
Proteolipid protein 1 |
GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2 |
Curated: Auditory neuropathy, Intellectual developmental disorder, Pelizaeus-merzbacher disease, Schizophrenia, Spastic paraplegia, x-linked, Spastic paraplegia, Hereditary spastic paraplegia
Unreviewed: Amyotrophic Lateral Sclerosis, Astrocytoma, Autism, Autoimmune Diseases, Bowel incontinence, Brain atrophy, Canavan Disease, Cerebral Atrophy, Cerebral cortical atrophy, Cerebral palsy, Choreoathetosis, CNS Disorder, Cockayne Syndrome, Cognition disorder, Colitis, Colorectal neoplasm, Congenital lung agenesis, Dementia, Demyelinating Diseases, Demyelinating neuropathy, Developmental Delay, Developmental disability, Dwarfism, Dysarthria, Dysmorphic Features, Dysphagia, Epilepsy, Focal cortical dysplasia, Genetic predisposition to disease, Glioblastoma, Glioma, Henoch-Schonlein Nephritis, Hereditary Motor Neuropathy, Hereditary pyropoikilocytosis, Hereditary spastic paraplegia, X-linked, Hyperhomocysteinemia, Hyperoxaluria, Hypersensitivity, Hypomyelinating Leukodystrophy, Hypophosphatasia, Impaired Cognition, Ischemic Stroke, Isodicentric Chromosome 15 Syndrome, Kidney Disease, Kidney Failure, Leiomyoma, Leukodystrophy, Leukoencephalopathy, Limb Muscle Atrophy, Lung disease, Malignant Neoplasm, MASA syndrome, Melanoma, Mental Depression, Mental retardation, Metachromatic leukodystrophy, Microcephaly, Mitochondrial disease, Mitochondrial Diseases, Motor delay, Multiple Congenital Anomalies, Multiple Sclerosis, Neoplasms, Nervous System Diseases, Nervous System Disorder, Neurodegenerative Disorders, Neuropathy, Null Syndrome, Nystagmus, Oligodendroglioma, Optic Atrophy, Paraparesis, Paraplegia, Parkinson disease, Pelizaeus-Merzbacher disease, Pendular nystagmus, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Prostatic neoplasm, Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency, Quadriplegia, Rotary nystagmus, Secondary parkinson disease, Senile Dementia, Sensory neuropathy, Spastic Ataxia, Spastic Paraplegia, Spinocerebellar Degeneration, Striatonigral Degeneration, Syndromic Mental Retardation, X-linked, Syndromic microphthalmia, Tauopathies, Temporal lobe epilepsy, Tremor, Urinary bladder neoplasms, Uterine Fibroids, Willis-ekbom disease
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1490
|
|
|
Proteolipid protein 2 |
A4, A4LSB |
Curated: N/A
Unreviewed: Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Carcinoma, Cervix carcinoma, Crohn disease, Glioblastoma, Glioma, Inflammatory bowel disease, Liver carcinoma, Lung carcinoma, Lymphoblastic Leukemia, Melanocytic nevus, Melanoma, Mental retardation, Multiple myeloma, Neoplasms, Nocturnal frontal lobe epilepsy, Ovarian neoplasm, Squamous cell carcinoma, Thromboangiitis obliterans, Ulcerative colitis, Varicose veins
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