2961
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Poly(U) binding splicing factor 60 |
FIR, RoBPI, SIAHBP1, VRJS |
Curated: 8q24.3 microdeletion syndrome, Charge syndrome, Desbuquois syndrome, Intellectual developmental disorder dysmorphic cardiac short stature, Mesothelioma, Necrosis, Neurodevelopmental disorder, Verheij syndrome, syndromic intellectual disability
Unreviewed: Aortic aneurysm, Aortic Coarctation, Atrioventricular septal defect, Attention Deficit Hyperactivity Disorder, Bilateral renal hypoplasia, Branchioma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Carcinoma Of The Head And Neck, Cerebral Atrophy, CHROMOSOME 8q24.3 DELETION SYNDROME, Clinodactyly, Coloboma, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Epicanthus, Congenital heart defect, Congenital heart defects, Congenital ocular coloboma, Congenital Pectus Excavatum, Craniofacial abnormalities, Dermatomyositis, Development Disorder, Developmental Delay, Developmental disability, Developmental dysplasia of the hip, Diabetes Mellitus, Dwarfism, Dysmorphic Features, Dysphagia, Esophageal Carcinoma, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Exocrine pancreatic insufficiency, Exotropia, Fundus Coloboma, Gastroesophageal Reflux Disease, Glioblastoma, Growth disorder, Heart disease, Heart Septal Defects, Hemifacial hypoplasia, Hypereosinophilic syndrome, Hyperopia, HYPERTRICHOSIS, Hypoplasia Of Corpus Callosum, Hypoplasia Of The Optic Nerve, Hypoplastic aortic arch, Inflammatory Myopathy, Intellectual developmental disorder, Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome, Isolated Somatotropin Deficiency, Liver carcinoma, Lung carcinoma, Lung neoplasms, Lupus Erythematosus, Malignant Neoplasm, Mental retardation, Microcephaly, Micrognathism, Micromelia, Microphthalmos, Multiple Congenital Anomalies, Myopia, Myositis, Myotonic dystrophy, Neoplasms, Ovarian neoplasm, Partial Or Complete Agenesis Of Corpus Callosum, Patent ductus arteriosus, Pelvic kidney, Penile Hypospadias, Persistent truncus arteriosus, Polydactyly, Polymyositis, Posteriorly Rotated Ear, Ptosis, Radial Polydactyly, Renal agenesis, Renal aplasia, Renal cell carcinoma, Renal cyst, Renal hypoplasia, Retinal coloboma, Rheumatoid arthritis, Scoliosis, Septicemia, Short femur, Sjogren syndrome, Sjogren`s Syndrome, Spina bifida occulta, Spondylocostal dysostosis, Stomach neoplasms, Strabismus, Strawberry Nevus Of Skin, Submucosal cleft palate, Supernumerary Mesiodens Tooth, Sweet Syndrome, Synovial sarcoma, Talipes, Thymus Hyperplasia, Tourette syndrome, Trichohepatoenteric Syndrome, Ventricular septal defect, Vertical Talus, Vesicoureteral Reflux
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2962
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Pumilio RNA binding family member 1 |
HSPUM, NEDMSF, PUMH, PUMH1, PUML1, SCA47 |
Curated: Colorectal cancer, Gout, Intellectual developmental disorder, Metabolic syndrome, Neurodevelopmental disorder, Spastic ataxia, Spinocerebellar ataxia, Hypertension, Diabetes mellitus type 2
Unreviewed: Breast Cancer, Breast neoplasm, Carcinogenesis, Cholestasis of pregnancy, Clinodactyly, Colorectal neoplasm, Cryptorchidism, Development Disorder, Developmental Delay, Dwarfism, Dysarthria, Endometrial neoplasm, High palate, Infertility, Lung carcinoma, Mammary Neoplasms, Mental retardation, Motor delay, Neoplasms, Obesity, Osteoporosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Parkinson disease, Premature Menopause, Prostatic neoplasm, Psoriasis, Ptosis, Spinocerebellar Ataxia, Stomach neoplasms, Subfertility, Syndromic microphthalmia, Triple negative breast cancer, Uterine neoplasm
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2963
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|
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Pumilio RNA binding family member 2 |
PUMH2, PUML2 |
Curated: Autism, Iron metabolism disorder, Metabolic syndrome, Osteoarthritis
Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Endometrial neoplasm, Epilepsy, Glioblastoma, Heart failure, Neoplasms, Osteosarcoma, Ovarian neoplasm, Parkinson disease
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2964
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Pumilio RNA binding family member 3 |
HA-8, HLA-HA8, KIAA0020, PEN, PUF-A, PUF6, XTP5 |
Curated: Alzheimer disease, Obesity
Unreviewed: Breast Cancer, Breast Carcinoma, Carcinogenesis, Diabetes Mellitus, Hypertension, Lung carcinoma, Malignant Neoplasm, Malnutrition, Neoplasms, Retinal Cone Dystrophy
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2965
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|
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Purine rich element binding protein A |
MRD31, NEDRIHF, PUR-ALPHA, PUR1, PURALPHA |
Curated: Neurodevelopmental disorder, Congenital neurologic anomalies, Epilepsy, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Non-specific syndromic intellectual disability, complex neurodevelopmental disorder
Unreviewed: Amyotrophic Lateral Sclerosis, Autism, Brain disease, Choreoathetosis, Cutis laxa, Developmental Delay, Developmental disability, Dysmorphic Features, Epileptic encephalopathy, Esophageal Carcinoma, Esophageal squamous cell carcinoma, Esotropia, Expressive language delay, Fabry disease, Frontotemporal dementia, GLUT1 Deficiency Syndrome, Heart disease, High palate, Hydrocephalus, Hyperopic astigmatism, Hypersensitivity, Hypertyrosinemia, Hypoglycemia, Hypotonia, Hypotonia-Seizures-Encephalopathy Syndrome, Inflammatory bowel disease, Language development disorders, Learning Disorders, Leukemia, Liver neoplasm, Malnutrition, Mental retardation, Movement Disorders, Myelodysplastic Syndrome, Nervous System Disorder, Neurodevelopmental Disorders, Nystagmus, Osteopenia, Prostatic Neoplasms, Psychiatric disorders, Schizophrenia, Seizures, Stomach neoplasms, Strabismus
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2966
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- |
- |
Curated: N/A
Unreviewed: N/A
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2967
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Purine rich element binding protein B |
PURBETA |
Curated: Bipolar disorder, Clonal hematopoiesis, Major depressive disorder, Schizoaffective disorder, Squamous cell carcinoma
Unreviewed: Congestive Heart Failure, Heart Failure, Leukemia, Myelodysplastic Syndrome
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2968
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Purine rich element binding protein G |
PURG-A, PURG-B, PURGA, PURGB |
Curated: Attention deficit hyperactivity disorder, Hypertension, Insomnia, Metabolic syndrome, Open angle glaucoma, Diabetes mellitus type 2, Werner syndrome
Unreviewed: Breast Cancer, Diabetes Mellitus, Neoplasms
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2969
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P53 upregulated regulator of p53 levels |
LINC01021 |
Curated: N/A
Unreviewed: Aortic aneurysm, Colorectal Cancer, Liver Cancer, Neoplasms, Stomach Carcinoma, Stomach Neoplasms
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2970
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Pseudouridine synthase 1 |
MLASA1 |
Curated: Alzheimer disease, Mitochondrial disease, Mitochondrial myopathy with sideroblastic anemia, Posterior cortical atrophy, Stomach neoplasms
Unreviewed: Anemia, Breast Cancer, Erythroid hyperplasia, Gastric Cancer, Glaucoma, High palate, Hypochromic anemia, Limb Muscle Atrophy, Liver carcinoma, Liver neoplasms, Mental retardation, Microcephaly, Micrognathism, Mitochondrial Diseases, Mitochondrial myopathy, Mitochondrial Myopathy And Sideroblastic Anemia, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Osteoarthritis, Scoliosis, Sideroblastic Anemia, Stomach Neoplasms
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