2441
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Peripherin |
NEF4, PRPH1 |
Curated: Amyotrophic lateral sclerosis, Motor neuron disease
Unreviewed: N/A
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2442
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Peripherin 2 |
AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2 |
Curated: Distal myopathy, Bestrophinopathy, Butterfly-shaped pigmentary macular dystrophy, Central areolar choroidal dystrophy, Choroidal dystrophy, Choroidal sclerosis, Choroideremia, Cone dystrophy, Cone-rod dystrophy, Doyne honeycomb retinal dystrophy, Leber congenital amaurosis, Macular degeneration, Macular dystrophy, Optic atrophy, Patterned macular dystrophy, Retinitis pigmentosa, Retinitis pigmentosa, digenic, Retinitis punctata albescens, Stargardt disease, Usher syndrome, Vitelliform macular dystrophy, PRPH2-related retinopathy
Unreviewed: 5-alpha reductase deficiency, Age-related macular degeneration, Alzheimer disease, Amyotrophic Lateral Sclerosis, Androgen-Insensitivity Syndrome, Anetoderma, Angle closure glaucoma, Anxiety Disorder, Atrophy, Blindness, Bronchopulmonary Dysplasia, Cataract, Central Areolar Choroidal Dystrophy, Central Areolar Choroidal Sclerosis, Chorioretinal atrophy, Choroidal Dystrophy, Choroidal neovascularization, Cone Dystrophy, Congenital alveolar dysplasia, Congenital Hypoplasia Of Penis, Congenital Sensorineural Hearing Loss, Crohn disease, Cystoid macular edema, Diabetes Mellitus, Disorder Of Eye, Disorder Of Macula Of Retina, Drusen, Dyschromatopsia, Foveomacular Vitelliform Dystrophy, Full Thickness Hole Of Macula Lutea, Fundus Albipunctatus, Geographic Atrophy, Giant Axonal Neuropathy, Glaucoma, Glycogen Storage Disease, Hearing Loss, Hearing loss with stapes fixation, Hyperbilirubinemia, Hyperinsulinism, Hypogonadism, Keratoconus, Laryngeal carcinoma, Laryngospasm, Larynx cancer, Lateral Sclerosis, Leber Congenital Amaurosis, Lenticonus, Lung neoplasms, Macular Degeneration, Macular dystrophy, patterned, Mental Depression, Mental retardation, Mood swings, Motor neuron atrophy, Motor Neuron Disease, Multifocal Pattern Dystrophy Of Retinal Pigment Epithelium Simulating Fundus Flavimaculatus, Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus, Nervous System Diseases, Neuroblastoma, Neuropathy, Night Blindness, Nyctalopia, Nystagmus, Obesity, Obsolete Peripheral Retinopathy, Optic Atrophy, Parkinson disease, Patterned Dystrophy Of Retinal Pigment Epithelium, Peripheral nervous system disease, Peripheral Neuropathy, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Polycystic kidney disease, Polyneuropathy, Progressive Cone Dystrophy, Pseudobulbar Palsy, Renal cell carcinoma, Respiratory Distress Syndrome, Respiratory Failure, Reticular retinal dystrophy, Retinal degeneration, Retinal detachment, Retinal Diseases, Retinal Dystrophy, Retinal nonattachment, Retinitis Pigmentosa, Retinitis Pigmentosa, Digenic, Rod-cone dystrophy, Septicemia, Shwachman Syndrome, Sleep Apnea, Sveinsson chorioretinal atrophy, Usher Syndrome, Visual disorder, Vitelliform Macular Dystrophy
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2443
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Phosphoribosyl pyrophosphate synthetase 1 |
ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI |
Curated: Gouty arthritis, Arts syndrome, Ataxia with deafness and vision loss, Charcot-marie-tooth disease, Charcot-marie-tooth disease, x-linked, Deafness, x-linked, Dejerine-sottas disease, Gout, Hereditary hearing loss, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy, Prpp synthetase superactivity, Optic atrophy, Peroneal muscle atrophy, Retinitis pigmentosa, Roussy-levy syndrome, X-linked intellectual disability, X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome, X-linked nonsyndromic hearing loss, phosphoribosylpyrophosphate synthetase superactivity, PRPS1 deficiency disorder
Unreviewed: N/A
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2444
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Phosphoribosyl pyrophosphate synthetase 1 like 1 |
PRPS1, PRPS3, PRPSL, PRS-III |
Curated: Gastric cancer
Unreviewed: Arts syndrome, Astrocytoma, Ataxia, Breast Cancer, Breast Carcinoma, Burkitt lymphoma, Carcinogenesis, Carcinoma, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease, X-Linked, Chondrocalcinosis, Coloboma of macula, Colorectal Cancer, Deafness, Deafness, X-Linked, Developmental Delay, Diabetes Insipidus, Distal amyotrophy, Dolichocephaly, Dwarfism, Dysarthria, Dysmorphic Features, Dysphagia, Exotropia, Fibrosis Of Pancreas, Glioblastoma, Gout, Headache, Hearing Loss, Hearing loss with stapes fixation, Hepatocellular carcinoma, Hyperuricemia, Hypoplasia Of Corpus Callosum, Hypotonia, Immunologic Deficiency Syndromes, Inherited Peripheral Neuropathy, Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome, X-Linked, Language Disorders, Lethal Ataxia With Deafness And Optic Atrophy, Leukoencephalopathy, Liver carcinoma, Lung neoplasms, Lymphoblastic Leukemia, Lymphocytic Leukemia, Malignant Neoplasm, Malnutrition, Melanoma, Mental retardation, Metabolic Diseases, Motor delay, Multiple Congenital Anomalies, Neoplasms, Nephropathy with Pretibial Epidermolysis Bullosa and Deafness, Nervous system disease, Nervous System Diseases, Neuroblastoma, Neuropathy, Nonsyndromic Deafness, Nystagmus, Optic Atrophy, Optic Neuropathy, Ovarian neoplasm, Peripheral nervous system disease, Peripheral Neuropathy, Phosphoribosylpyrophosphate Synthetase Superactivity, Polyneuropathy, Progeria, Quadriplegia, Renal Insufficiency, Retinal detachment, Retinal Dystrophy, Retinitis pigmentosa, Scoliosis, Seizure, Sensory neuropathy, Sleep Apnea, Spastic tetraparesis, Uric Acid Renal Calculus, Uric Acid Urolithiasis, Visual disorder
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2445
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Phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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2446
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Phosphoribosyl pyrophosphate synthetase 1 pseudogene 2 |
PRPS1L2 |
Curated: N/A
Unreviewed: N/A
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2447
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Phosphoribosyl pyrophosphate synthetase 2 |
PRSII |
Curated: Systemic lupus erythematosus
Unreviewed: Burkitt lymphoma, Colorectal neoplasm, Graves ophthalmopathy, Lupus Erythematosus, Malignant Neoplasm, Melanoma, Neuroblastoma, Oligospermia
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2448
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Phosphoribosyl pyrophosphate synthetase associated protein 1 |
PAP39 |
Curated: Gout, Osteonecrosis of the femoral head, Ovarian serous carcinoma
Unreviewed: Hepatocellular carcinoma, Hyperuricemia, Ovarian neoplasm, Ovarian serous adenocarcinoma
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2449
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Phosphoribosyl pyrophosphate synthetase associated protein 2 |
PAP41 |
Curated: Gout, Pancreatic cancer
Unreviewed: Generalized epilepsy, Hyperuricemia, Malocclusion, Osteosarcoma
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2450
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Proline rich 11 |
- |
Curated: N/A
Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Glioma, Hepatocellular carcinoma, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Malignant Neoplasm, Neoplasms, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Tongue carcinoma, Urinary bladder neoplasms
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