2991
|
|
|
TRNA splicing endonuclease subunit 15 pseudogene 3 |
- |
Curated: N/A
Unreviewed: N/A
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2992
|
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TRNA splicing endonuclease subunit 2 |
PCH2B, SEN2, SEN2L |
Curated: Alzheimer disease, Coronary artery disease, Deglutition disorder, Hemolytic uremic syndrome, Hypertrophic cardiomyopathy, Osteonecrosis of the femoral head, Intellectual developmental disorder, Metabolic syndrome, Microcephaly, Movement disorder, Nonalcoholic fatty liver disease, Periodontal disease, Periodontitis, Pontocerebellar hypoplasia, Systemic lupus erythematosus, Diabetes mellitus type 1, Diabetes mellitus type 2, Visual disorder
Unreviewed: Cerebellar atrophy, Cerebellar Hypoplasia, Congenital Microcephaly, Diabetes Mellitus, Diabetes mellitus, type 2, Dysphagia, Esophageal Dysphagia, Extrapyramidal dyskinesia, Hemeralopia, Hypoplasia Of Corpus Callosum, Mental retardation, Microlissencephaly, Movement Disorders, Oropharyngeal Dysphagia, Pontoneocerebellar hypoplasia, Status marmoratus, Vision Disability
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2993
|
|
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TRNA splicing endonuclease subunit 2 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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2994
|
|
|
TRNA splicing endonuclease subunit 34 |
LENG5, PCH2C, SEN34, SEN34L |
Curated: Deglutition disorder, Intellectual developmental disorder, Microcephaly, Movement disorder, Obesity, Pontocerebellar hypoplasia, Visual disorder
Unreviewed: Congenital Microcephaly, Dysphagia, Esophageal Dysphagia, Hemeralopia, Mental retardation, Microlissencephaly, Movement Disorders, Oropharyngeal Dysphagia, Pontoneocerebellar hypoplasia, Status marmoratus, Vision Disability
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2995
|
|
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TRNA splicing endonuclease subunit 54 |
PCH2A, PCH4, PCH5, SEN54L, sen54 |
Curated: Amblyopia, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Obstructive pulmonary disease, Congenital neurologic anomalies, Deglutition disorder, Global developmental delay, Intellectual developmental disorder, Methylmalonic acidemia, Microcephaly, Movement disorder, Pontocerebellar hypoplasia, Visual disorder
Unreviewed: Amyloidosis, Arthrogryposis multiplex congenita, Ataxia, Atrophy, Cerebellar Hypoplasia, Chronic obstructive pulmonary disease, Congenital contracture, Congenital heart defect, Congenital Microcephaly, Developmental Delay, Dyskinetic Syndrome, Dysphagia, Dystonia, Esophageal Dysphagia, Extrapyramidal dyskinesia, Glioma, Hearing loss, Hemeralopia, Hepatocellular carcinoma, Leukodystrophy, Mental retardation, Micrognathism, Microlissencephaly, Movement Disorders, Neoplasms, Olivopontocerebellar hypoplasia, fetal-onset, Oropharyngeal Dysphagia, Pontoneocerebellar hypoplasia, Respiratory Failure, Seizures, Sleep Apnea, Status marmoratus, Stomach neoplasms, Vision Disability
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2996
|
|
|
Ts translation elongation factor, mitochondrial |
EFTS, EFTSMT |
Curated: Dilated cardiomyopathy, Combined oxidative phosphorylation deficiency, Skeletal muscle disorder, Dyskinesia, Gout, Leigh syndrome, Mitochondrial disease, Multiple sclerosis, Nephrotic syndrome, Sarcoidosis, Steroid-resistant nephrotic syndrome
Unreviewed: Asthma, Ataxia, Brain disease, Cardiomyopathy, Combined Oxidative Phosphorylation Deficiency, Concentric hypertrophic cardiomyopathy, Congenital abnormalities, Developmental Delay, Epileptic encephalopathy, Fatal Mitochondrial Disease, Hearing Loss, Hepatocellular carcinoma, Hereditary motor and sensory neuropathies, Hypertrophic cardiomyopathy, Hypotonia, Hypoxia, Impaired Cognition, Leigh Syndrome, Liver failure, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Multiple Sclerosis, Multiple system atrophy, Nervous System Diseases, Optic Atrophy, Patent ductus arteriosus, Patent foramen ovale, Peripheral nervous system disease, Peripheral Neuropathy, Respiratory Failure
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2997
|
|
|
- |
- |
Curated: N/A
Unreviewed: Osteopenia
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2998
|
|
|
Tumor susceptibility 101 |
TSG10, VPS23 |
Curated: N/A
Unreviewed: Adenocarcinoma, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt lymphoma, Burkitt`s Lymphoma, Carcinogenesis, Carcinoma, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth Disease, Demyelinating diseases, Endometrial Adenocarcinoma, Endometriosis, Epilepsy, Gastrointestinal stromal tumor, Hyperplasia, Hypoxia, Kidney Failure, Leukemia, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Lymphoma, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Membranous glomerulonephritis, Nasopharyngeal Carcinoma, Neoplasms, Nephroblastoma, Neurodegenerative disorder, Neuroectodermal Tumors, Obesity, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Prostatic neoplasm, Renal Carcinoma, Renal fibrosis, Sarcoma, Stomach Carcinoma, Stomach Neoplasms, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Uterine neoplasm
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2999
|
|
|
- |
- |
Curated: N/A
Unreviewed: N/A
|
3000
|
|
|
Testis specific 10 |
CEP4L, CT79, SPGF26 |
Curated: Spermatogenic failure, Uterine fibroid
Unreviewed: Acephalic spermatozoa, Autoimmune Diseases, Autoimmune polyendocrine syndrome type 1, Autoimmune Polyendocrinopathy, Bladder carcinoma, Bladder Neoplasm, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Citrullinemia, Colonic Neoplasms, Colorectal neoplasm, Esophagus Neoplasm, Hematopoietic Neoplasms, Hepatocellular carcinoma, Leukemia, Liver carcinoma, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Male infertility, Malignant Neoplasm, Malignant Neoplasm Of Testis, Melanoma, Nasopharyngeal Carcinoma, Neoplasms, Ovarian cancer, Ovarian neoplasm, Polyglandular autoimmune syndrome, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Skin Neoplasms, Soft Tissue Neoplasms, Systemic lupus erythematosus, Transitional cell carcinoma, Urinary bladder cancer, Urinary bladder neoplasms
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