41
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|
|
Alanine and arginine rich domain containing protein |
C8orf85 |
Curated: Eczema, Hypertension, Major depressive disorder, Thoracic aortic aneurysm
Unreviewed: N/A
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42
|
|
|
Alanyl-tRNA synthetase 1 |
AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8 |
Curated: Leukoencephalopathy, Charcot-marie-tooth disease, Congenital clubfoot, Dejerine-sottas disease, Developmental and epileptic encephalopathy, Distal spinal muscular atrophy, Hereditary motor and sensory neuropathies, Hypertrophic neuropathy, Leukodystrophy, Osteoarthritis, Peripheral neuropathy, Peroneal muscle atrophy, Roussy-levy syndrome, Trichothiodystrophy, Charcot-Marie-Tooth disease axonal type 2N, developmental and epileptic encephalopathy, 29
Unreviewed: Antithrombin deficiency, Attention Deficit Hyperactivity Disorder, Autism, Blepharospasm, Brain disease, Breast Cancer, Breast Carcinoma, Carcinogenesis, Cardiomyopathy, Cerebral Atrophy, Charcot-Marie-Tooth Disease, Demyelinating diseases, Dermatomyositis, Developmental Delay, Developmental regression, Distal hereditary motor neuropathy, Dwarfism, Dysautonomia, Dyskinetic Syndrome, Ectrodactyly, Epilepsy, Epileptic encephalopathy, Gastroesophageal Reflux Disease, Hearing Loss, Hereditary Diffuse Leukoencephalopathy With Spheroids, Hypodontia, Inflammatory Myopathy, Lung disease, Mental retardation, Metachromatic leukodystrophy, Microcephaly, Mitochondrial disease, Motor nerve neuritis, Multiple myeloma, Myositis, Myotonic dystrophy, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neurodegenerative disorder, Neuropathy, Non-Specifi Epileptic Encephalopathy, Nystagmus, Optic Atrophy, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Polymyositis, Ptosis, Status Epilepticus, Upper extremity deformity, congenital, West Syndrome
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43
|
|
|
Alanyl-tRNA synthetase 1 pseudogene 1 |
AARSP1 |
Curated: N/A
Unreviewed: N/A
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44
|
|
|
Alanyl-tRNA synthetase 2, mitochondrial |
AARSL, COXPD8, LKENP, MT-ALARS, MTALARS |
Curated: Alzheimer disease, Combined oxidative phosphorylation deficiency, Congenital hypoplasia of lung, Mitochondrial disease, Ovarian cancer, Visual impairment
Unreviewed: Apraxia, Ataxia, Brain disease, Cardiomyopathy, Cerebellar ataxia, Cerebellar atrophy, Cerebellar diseases, Charcot-Marie-Tooth Disease, Cognition disorder, Colorectal neoplasm, Combined Oxidative Phosphorylation Deficiency, Dementia, Dysarthria, Dysmorphic Features, Epileptic encephalopathy, Frontotemporal dementia, Galactosialidosis, Hepatocellular carcinoma, Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia, Hereditary Diffuse Leukoencephalopathy With Spheroids, Hydrops Fetalis, Hypertrophic cardiomyopathy, Impaired Cognition, Leukodystrophy, Leukoencephalopathy, Leukoencephalopathy, With Ovarian Failure, Lung disease, Mental Depression, Metachromatic leukodystrophy, Microcephaly, Mitochondrial Cardiomyopathy, Mitochondrial encephalomyopathy, Mitochondrial encephalopathy, Mitochondrial Respiratory Chain Deficiencies, Motor nerve neuritis, Multiple Congenital Anomalies, Myoclonic epilepsy with ragged red fibers, Myopathy, Myositis, Nervous system disease, Nystagmus, Optic Atrophy, Ovarian dysgenesis, Ovarian Failure, Ovarioleukodystrophy, Pericardial effusion, Periventricular Leukomalacia, Pleural effusion, Premature Menopause, Pulmonary hypoplasia, Retinal Diseases, Visual disorder
|
45
|
|
|
Alanyl-tRNA synthetase domain containing 1 |
AlaXp |
Curated: N/A
Unreviewed: Glioma
|
46
|
|
|
AARSD1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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47
|
|
|
Aminoadipate-semialdehyde dehydrogenase |
ACSF4, LYS2, NRPS1098, NRPS998 |
Curated: Gout
Unreviewed: Adenocarcinoma, Colorectal Cancer
|
48
|
|
|
Aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
AASD-PPT, ACPS, CGI-80, LYS2, LYS5 |
Curated: N/A
Unreviewed: Carpenter syndrome, Colorectal neoplasm, Diverticular Diseases, Glioma, Hemophilia, Malignant Neoplasm
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49
|
|
|
AASDHPPT antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
|
50
|
|
|
Aminoadipate-semialdehyde synthase |
LKR/SDH, LKRSDH, LORSDH |
Curated: Color vision deficiency, Hyperlipidemia, Saccharopinuria, hyperlysinemia
Unreviewed: Alpha-Aminoadipic Semialdehyde Deficiency Disease, Anemia, Citrullinemia, Diabetes mellitus, Dwarfism, Ectopia Lentis, Histidine transport defect, Hyperlysinemia, Impaired Cognition, Liver carcinoma, Lysine Alpha-Ketoglutarate Reductase Deficiency Disease, Mental retardation, Neoplasms, Periodic Hyperlysinemia, Spastic diplegia, Urogenital Abnormalities
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