3101
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SplA/ryanodine receptor domain and SOCS box containing 4 |
SSB-4, SSB4 |
Curated: Astrocytoma, Central nervous system cancer, Gastric cancer, Glioma, Schizophrenia, Stroke
Unreviewed: Mental Depression, Mood Disorder
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3102
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Spectrin alpha, erythrocytic 1 |
EL2, HPP, HS3, SPH3, SPTA |
Curated: Anemia, Hemolytic anemia, Hereditary elliptocytosis, Spherocytosis
Unreviewed: Acromegaly, Alzheimer disease, Atherosclerosis, beta Thalassemia, Breast neoplasm, Carcinoma, Cholangiocarcinoma, Cholelithiasis, Colorectal Cancer, Elliptocytosis, Fibrinogen Deficiency, Frontal bossing, Gallstones, Gilbert syndrome, Glioblastoma, Gout, Hemolysis, Hemolytic Uremic Syndrome, Hepatocellular carcinoma, Hereditary Elliptocytosis, Hereditary pyropoikilocytosis, Hereditary Spherocytosis, Hereditary xerocytosis, Hydrops Fetalis, Hyperbilirubinemia, Hyperglycemia, Hypofibrinogenemia, Large cell carcinoma, Lung carcinoma, Lymphoma, Malignant Neoplasm, Membranous glomerulonephritis, Microspherocytosis, Necrosis, Obesity, Pancreatic ductal carcinoma, Prostatic neoplasm, Renal glycosuria, Restrictive cardiomyopathy, Sepsis, Sickle cell anemia, Small cell lung carcinoma, Spinal muscular atrophy, Splenomegaly, Thrombophilia, Thyroid cancer
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3103
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Spectrin alpha, non-erythrocytic 1 |
DEE5, DEVEP, EIEE5, HMN11, HMND11, NEAS, SPG91, SPTA2 |
Curated: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Degenerative disorder, Developmental and epileptic encephalopathy, Developmental delay with or without epilepsy, Developmental disability, Distal spinal muscular atrophy, Partial epilepsy, Rolandic epilepsy, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Jeune thoracic dystrophy, Neurodegenerative disorder, Neurodevelopmental disorder, Neuromuscular disease, Distal hereditary motor neuropathy, Peripheral neuropathy, Short-rib thoracic dysplasia, Spastic ataxia, Spastic paraplegia, Hereditary spastic paraplegia, West syndrome, genetic developmental and epileptic encephalopathy
Unreviewed: Anemia, Ataxia, Autoimmune Diseases, Brain atrophy, Brain disease, Brainstem Atrophy, Breast Cancer, Cerebellar ataxia, Cerebellar atrophy, Cerebellar diseases, Cerebral Atrophy, Chromosomal instability, Coloboma, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congestive Heart Failure, Degenerative Diseases, Central Nervous System, Demyelinating diseases, Developmental regression, Dystonia, Epilepsy, Epileptic encephalopathy, Erythroblastic Leukemia, Fanconi Anemia, Glioblastoma, Glycogen storage disease, Heart Failure, Henoch-Schonlein Nephritis, Hypoplasia Of Corpus Callosum, Infantile Spasms, Lupus Erythematosus, Malignant Neoplasm, Mental retardation, Microcephaly, Migraine, Migraine with Aura, Motor nerve neuritis, Moyamoya Disease, Myeloid Leukemia, Myoclonic Encephalopathy, Myoclonic Epilepsy, Myopathy, Neoplasms, Nervous system disease, Nervous System Disorder, Neurodegenerative Disorders, Paraplegia, Pontocerebellar hypoplasia, Schizophrenia, Seizures, Sjogren syndrome, Spasms Syndrome, Spasms X-Linked, Spastic Quadriplegia, Stomach Carcinoma, Stomach Neoplasms, Subarachnoid hemorrhage, T-cell leukemia, T-Cell Lymphoma/Leukemia, Thyroid Diseases, Vascular disease, West Syndrome
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3104
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Spectrin beta, erythrocytic |
EL3, HS2, HSPTB1, SPH2 |
Curated: Anemia, Hemolytic anemia, Neonatal anemia, Perinatal hemolytic anemia, Chagas cardiomyopathy, Chudley-mccullough syndrome, Hereditary elliptocytosis, Obesity, Spherocytosis, Diabetes mellitus type 2
Unreviewed: Beta thalassemia, Cholangiocarcinoma, Cholelithiasis, Cognition disorder, Congenital heart septal defect, Elliptocytosis, Fibrinogen Deficiency, Frontal bossing, Gout, Hepatocellular adenoma, Hereditary Elliptocytosis, Hereditary pyropoikilocytosis, Hereditary Spherocytosis, Hydrops Fetalis, Hyperbilirubinemia, Hypofibrinogenemia, Iga nephropathy, Immune system disease, Liver carcinoma, Lung carcinoma, Microangiopathic hemolytic anemia, Myopathy, Neoplasms, Nephrotic syndrome, Prostatic neoplasm, Restrictive cardiomyopathy, Rheumatoid arthritis, Sickle cell anemia, Spinocerebellar ataxia, Thalassemia, Thrombophilia
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3105
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Spectrin beta, non-erythrocytic 1 |
DDISBA, ELF, HEL102, SPTB2, betaSpII |
Curated: Alzheimer disease, Autism, Bone fracture, Kidney disease, Dementia, Developmental delay with impaired growth and dysmorphic facies, Hearing loss, Intellectual developmental disorder, Mitral valve prolapse, Neurodevelopmental disorder, Non-specific syndromic intellectual disability, Open angle glaucoma, Schizophrenia, Diabetes mellitus type 1, Diabetes mellitus type 2
Unreviewed: Amyotrophic lateral sclerosis, Anaplasia, Anemia, Arthritis, Attention deficit hyperactivity disorder, Beckwith-Wiedemann Syndrome, beta Thalassemia, Bone Disease, Breast neoplasm, Cerebellar Ataxia, Cirrhosis, Cognitive disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Chromosomal Disease, Congenital heart defect, Congestive Heart Failure, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Diabetes mellitus, Diabetes mellitus, type 2, Epilepsy, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Fanconi Anemia, Fatty Liver, Heart Failure, Hepatocellular carcinoma, Hypoplastic left heart syndrome, Impaired Cognition, Interstitial cystitis, Kidney neoplasm, Learning disorders, Leukemia, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Lung adenocarcinoma, Male infertility, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Medulloblastoma, Metabolic Syndrome, Metachromatic leukodystrophy, Myeloid Leukemia, Myeloproliferative disorder, Myopia, Neoplasms, Neuroblastoma, Neurodegenerative Disorders, Non-Alcoholic Fatty Liver Disease, Obesity, Osteoporosis, Pancreatic ductal carcinoma, Pancreatic neoplasm, Parkinson disease, Renal cell carcinoma, Sclerosing Cholangitis, Seizures, Seminoma, Sjogren syndrome, Spinocerebellar Ataxia, Spondylocostal dysostosis, Squamous cell carcinoma, Uveal melanoma
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3106
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SPTBN1 antisense RNA 1 |
SPTBN1-AS2 |
Curated: N/A
Unreviewed: N/A
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3107
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SPTBN1 antisense RNA 2 |
- |
Curated: N/A
Unreviewed: N/A
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3108
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Spectrin beta, non-erythrocytic 2 |
GTRAP41, SCA5, SCAR14 |
Curated: Spinocerebellar ataxia, Cerebellar ataxia, Bipolar disorder, Breast cancer, Insomnia, Intellectual developmental disorder, Major depressive disorder, Osteoarthritis, Schizophrenia, spinocerebellar ataxia type 5, autosomal recessive spinocerebellar ataxia 14
Unreviewed: Abnormal Involuntary Movement, Ataxia, Ataxia Telangiectasia, Azoospermia, Cerebellar Ataxia, Cerebellar atrophy, Cerebellar Diseases, Cerebral palsy, Cholangiocarcinoma, Cognition disorder, Colorectal Cancer, Colorectal neoplasm, Congenital Cerebellar Ataxia, Cortical development malformation, Dentatorubral Pallidoluysian Atrophy, Developmental Delay, Developmental disability, Dowling-Degos Disease, Dysarthria, Hepatocellular adenoma, Horizontal nystagmus, Huntington Disease, Impaired Cognition, Liver carcinoma, Lymphedema, Microcephaly And Chorioretinopathy Syndrome, Machado-Joseph Disease, Malignant Peripheral Nerve Sheath Tumor, Mental retardation, Neurodegenerative disorder, Neurodegenerative Disorders, Nystagmus, Obesity, Papillary thyroid cancer, Psychiatric disorders, Schwartz-Jampel Syndrome, Spectrin-Associated Cerebellar Ataxia, Sphingomyelinase deficiency, Spinocerebellar Ataxia, Spinocerebellar Degeneration, Stevens-Johnson Syndrome, Strabismus, Thyroid cancer, Urinary bladder neoplasms, West Syndrome
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3109
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Spectrin beta, non-erythrocytic 4 |
CMND, NEDHND, QV, SPNB4, SPTBN3 |
Curated: Renal cell carcinoma, Global developmental delay, Neurodevelopmental disorder, Polycystic ovary syndrome, neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Unreviewed: Amyotrophy, Arthrogryposis, Auditory Neuropathy, Cardiovascular Diseases, Central Visual Impairment, Choreoathetosis, Chromophobe Carcinoma, Congenital myopathy, Congenital myopathy with fiber type disproportion, Deglutition disorder, Demyelinating neuropathy, Developmental Delay, Diabetes Mellitus, Distal amyotrophy, Facial paralysis, High palate, Hypersensitivity, Intellectual developmental disorder, Motor neuron disease, Myopathy, Nervous system disease, Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness, Neuropathy, Nystagmus, Papillary Renal Carcinoma, Paraneoplastic syndrome, Polycystic Ovary Syndrome, Renal Carcinoma, Sclerocystic Ovaries, Scoliosis
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3110
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Spectrin beta, non-erythrocytic 5 |
BSPECV, HUBSPECV, HUSPECV |
Curated: Autism, Cardiovascular disease, Neurodevelopmental disorder
Unreviewed: Cardiovascular Diseases, Dyskeratosis congenita, Ischemic Stroke, Metabolic Syndrome, Myocardial Infarction, Progressive supranuclear palsy, Sacral defect, Squamous cell carcinoma
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