131
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Sarcosine dehydrogenase |
BPR-2, DMGDHL1, SAR, SARD, SDH |
Curated: Asthma, Central nervous system cancer, Glioblastoma, Glioma, Hypoxia, Sarcosinemia
Unreviewed: Adrenal Gland Pheochromocytoma, Agenesis Of Corpus Callosum, Aplasia Cutis Congenita, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, Carney Triad, Carotid Body Paraganglioma, Chronic Obstructive Pulmonary Disease, Coffin-Siris Syndrome, Colorectal Cancer, Congenital blindness, Congenital Chromosomal Disease, Dementia, Dermatitis, Developmental Delay, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Retinopathy, Dyslexia, Dyssomnia, Eczema, Endometriosis, Esophagus Neoplasm, Extra-Adrenal Paraganglioma, Extra-Adrenal Pheochromocytoma, Gastrointestinal stromal tumor, Hamartoma, Hematologic Neoplasms, Hereditary Cancer Syndrome, Hereditary Leiomyomatosis and Renal Cancer, Hereditary Paraganglioma, Hypertension, Hypertrophic cardiomyopathy, Kidney Cancer, Kidney Neoplasm, Leiomyoma, Leukemia, Leukodystrophy, Leukoencephalopathy, Liver carcinoma, Lung Cancer, Lung carcinoma, Lymphocytic Leukemia, Malignant Neoplasm, Malnutrition, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, MELAS Syndrome, Mental retardation, Merkel cell carcinoma, Mitochondrial Complex Deficiency, Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, Mood swings, Motor delay, Movement Disorders, Multiple Endocrine Neoplasia, Myelodysplastic Syndrome, Myeloid Leukemia, Myofibrillar myopathy, Neoplasms, Neural Tube Defect, Neuroblastoma, Neurofibromatosis, Obesity, Optic Atrophy, Pancreatic cancer, Pancreatic carcinoma, Paraganglioma, Paraganglioma of head and neck, Pheochromocytoma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pulmonary Stenosis, Renal Carcinoma, Rheumatoid arthritis, Seizure, Senile Dementia, Skin cancer, Sleep Disorders, Spina Bifida, Strabismus, Subarachnoid hemorrhage, Succinate-Coenzyme Q Reductase Deficiency, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Torsades de Pointes, Triple Negative Breast Neoplasms, Urinary bladder cancer, Uterine Fibroids, Von Hippel-Lindau Syndrome
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132
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Sterile alpha and TIR motif containing 1 |
HsTIR, MyD88-5, SAMD2, SARM, hSARM1 |
Curated: Amyotrophic lateral sclerosis, Hereditary folate malabsorption, Hypertension, Visual disorder
Unreviewed: Alzheimer disease, Amyotrophic Lateral Sclerosis, Chronic Obstructive Pulmonary Disease, Congenital defect of folate absorption, Cystic fibrosis, Dyslipidemias, Fatty Liver, Frontotemporal dementia, Lateral Sclerosis, Metabolic Diseases, Motor neuron atrophy, Motor Neuron Disease, Nervous System Diseases, Nervous System Disorder, Neurodegenerative disorder, Neurodegenerative Disorders, Neuropathy, Non-Alcoholic Fatty Liver Disease, Parkinson disease, Peripheral nervous system disease, Peripheral Neuropathy, Prostate cancer, Prostatic neoplasm, Rheumatoid arthritis, Septicemia, Stomach Carcinoma, Stomach Neoplasms, Wallerian degeneration
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133
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SAP domain containing ribonucleoprotein |
CIP29, HCC1, HSPC316, THO1 |
Curated: Kawasaki disease
Unreviewed: Breast Cancer, Breast Carcinoma, Cholangiocarcinoma, Cholangitis, Coronary Heart Disease, Delirium, Esophageal Carcinoma, Esophagus Neoplasm, Glioma, Kidney Disease, Kidney Failure, Liver carcinoma, Liver Cirrhosis, Liver neoplasms, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Neoplasms, Pancreatic adenocarcinoma, Schizophrenia, Sclerosing Cholangitis, Triple Negative Breast Neoplasms
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134
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Seryl-tRNA synthetase 1 |
NEDMAS, SARS, SERRS, SERS |
Curated: Cerebral arteriovenous malformations, Nonsyndromic intellectual disability, Primary microcephaly, Ischemic heart disease, Coronary artery disease, Intellectual developmental disorder, Myocardial ischemia, Neurodevelopmental disorder, neurodevelopmental disorder with microcephaly, ataxia, and seizures
Unreviewed: Absence Of Septum Pellucidum, Aortic Valve Insufficiency, Ataxia, Autism, Breast Cancer, Breast Carcinoma, Bronchitis, Central Visual Impairment, Cerebral Atrophy, Colon Carcinoma, Cortical Dysplasia, Developmental Delay, Developmental disability, Diabetes Mellitus, Dyskinetic Syndrome, Dyssomnia, Encephalitis, Encephalitis/Encephalopathy With Reversible Myelin Vacuolization, Gastroenteritis, Hyperuricemia, Hypoplasia Of Corpus Callosum, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung Diseases, Malignant Neoplasm, Melanoma, Mental Depression, Mental retardation, Microcephaly, Motor delay, Multiple myeloma, Multiple Sclerosis, Neoplasms, Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures, Neutrophilia, Pancreatic cancer, Pancreatic carcinoma, Paraplegia, Polymicrogyria, Prostate cancer, Pulmonary Fibrosis, Pulmonary hypertension, Renal Insufficiency, Respiration Disorders, Respiratory Distress Syndrome, Respiratory Failure, Respiratory Tract Diseases, Salaam Seizures, Seizure, Severe Acute Respiratory Syndrome, Sleep Disorders, Stereotyped Behavior, Stroke, Vesicular Stomatitis
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135
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Seryl-tRNA synthetase 2, mitochondrial |
SARS, SARSM, SERS, SYS, SerRS, SerRSmt, mtSerRS |
Curated: Hyperuricemia, Mitochondrial disease, Diabetes mellitus type 2
Unreviewed: Anemia, Aortic Valve Insufficiency, Breast Cancer, Breast Carcinoma, Bronchitis, Colon Carcinoma, Diabetes Mellitus, Encephalitis, Encephalitis/Encephalopathy With Reversible Myelin Vacuolization, Gastroenteritis, Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome, Hypochloremia, Kidney Disease, Leukopenia, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung Diseases, Malignant Neoplasm, Melanoma, Mental retardation, Mitochondrial myopathy, Multiple Sclerosis, Myocardial Infarction, Neoplasms, Neutrophilia, Non-Syndromic Intellectual Disability, Pancreatic cancer, Pancreatic carcinoma, Prostate cancer, Pulmonary arterial hypertension, Pulmonary Fibrosis, Renal Carcinoma, Renal Insufficiency, Respiration Disorders, Respiratory Distress Syndrome, Respiratory Failure, Respiratory Tract Diseases, Severe Acute Respiratory Syndrome, Stroke, Vesicular Stomatitis
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136
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Spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP |
Ara1, HAF, HOMS1, SART1259, SNRNP110, Snu66 |
Curated: Gout, Non-melanoma skin carcinoma, Osteoarthritis
Unreviewed: Atopic dermatitis, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Colorectal Cancer, Colorectal neoplasm, Fatty Liver, Glioblastoma, Glioma, Hypercholesterolemia, Kidney Cancer, Liver carcinoma, Malignant Neoplasm, Neoplasms, Neuroblastoma, Neurodegenerative disorder, Non-alcoholic Fatty Liver Disease, Renal Carcinoma, Squamous cell carcinoma, Urinary bladder cancer, Uterine neoplasm
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137
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Spliceosome associated factor 3, U4/U6 recycling protein |
DSAP1, P100, RP11-13G14, TIP110, p110, p110(nrb) |
Curated: Neurodevelopmental disorder, Disseminated superficial actinic porokeratosis, Non-specific syndromic intellectual disability, Open angle glaucoma, Porokeratosis
Unreviewed: Anxiety Disorder, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Bone Disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiomyopathy, Colitis, Colonic neoplasm, Colonic Neoplasms, Color Blindness, Colorectal neoplasm, Colorectal Neoplasms, Diabetes, Diabetes Mellitus, Diffuse Lymphoma, Esophageal neoplasm, Glaucoma, Glioma, Hepatocellular carcinoma, Leukemia, Liver carcinoma, Liver neoplasm, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphoma, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Mitochondrial disease, MOHR-TRANEBJAERG SYNDROME, Mouth neoplasm, Multiple myeloma, Multiple Sclerosis, Neoplasms, Neuroblastoma, Neuromyelitis Optica, Obesity, Optic Atrophy, Optic Neuritis, Osteopenia, Osteosarcoma, Ovarian neoplasm, Papillary thyroid carcinoma, Parkinson disease, Phenylketonuria, Prostate cancer, Pulmonary Fibrosis, Renal Carcinoma, Sarcoma, Seminoma, Skin Erosion, Sleep deprivation, Stomach neoplasms, T-cell leukemia, T-Cell Lymphoma/Leukemia, Urinary bladder cancer
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138
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SAM and SH3 domain containing 1 |
CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1 |
Curated: Alzheimer disease, Autoimmune disease, Autoimmune thyroid disease, Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, Colorectal cancer, Diabetic neuropathy, Dilated cardiomyopathy, Dyschromatosis, Dyschromatosis symmetrica hereditaria, Esophageal cancer, Esophageal disease, Esophageal ulcer, Gastric cancer, Glioma, Hepatolenticular degeneration, Hypothyroidism, Lung cancer, Major depressive disorder, Myocardial infarction, Oligodendroglioma, Open angle glaucoma, Rotator cuff tear, Thyroid disease, Diabetes mellitus type 2
Unreviewed: Alopecia, Arteriosclerosis, Atherosclerosis, B-Cell Lymphoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Chordoma, Chronic obstructive pulmonary disease, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal neoplasm, Dermatologic Disorders, Diabetic Nephropathy, Dyschromatosis Universalis Hereditaria, Esophagus Neoplasm, Hepatocellular carcinoma, Hypopigmentation Disorder, Lentiginosis Profusa, LEOPARD Syndrome, Leprosy, Leukemia, Liver Cancer, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Malignant Neoplasm, Mammary Neoplasms, Multinodular goiter, Nail dystrophy, Neoplasms, Neuroblastoma, Osteosarcoma, Palmoplantar keratoderma, Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome, Rotator cuff syndrome, Skin cancer, Skin Carcinoma, Skin neoplasm, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Symmetrical Dyschromatosis Of Extremities, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Triple Negative Breast Neoplasms, Uterine disease, Uterine neoplasm
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139
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SAM and SH3 domain containing 3 |
753P9, CXorf9, HACS2, IMD102, SH3D6C, SLY |
Curated: Combined immunodeficiency, x-linked, Immunodeficiency, X-linked combined immunodeficiency diseases
Unreviewed: Breast neoplasm, Common variable immunodeficiency, Diverticulitis, Neoplasms, Oligodendroglioma, Squamous cell carcinoma, Triple negative breast cancer
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140
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SAS-6 centriolar assembly protein |
MCPH14, SAS-6, SAS6 |
Curated: Primary microcephaly, Microcephaly
Unreviewed: Agenesis Of Corpus Callosum, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Corpus callosum agenesis, Delirium, Developmental Delay, Dwarfism, Dysmorphic Features, Lung adenocarcinoma, Malignant Neoplasm, Melanocytic nevus, Mental retardation, Neuronal Heterotopia, Nevus, Pachygyria, Renal aplasia, Vesicoureteral Reflux
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