6951
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Regulator of telomere elongation helicase 1 |
C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL |
Curated: Myeloid leukemia, Anorectal malformation, Systemic scleroderma, Asthma, Eczema, B-cell acute lymphoblastic leukemia, Breast cancer, Cancer, Central nervous system cancer, Obstructive airway disease, Clonal hematopoiesis, Colorectal adenoma, Colorectal cancer, Combined oxidative phosphorylation deficiency, Melanoma, Dental caries, Dyskeratosis congenita, Estrogen-receptor negative breast cancer, Gastroesophageal reflux disease, Glioblastoma, Glioma, Hoyeraal hreidarsson syndrome, Idiopathic pulmonary fibrosis, Inflammatory bowel disease, Interstitial lung disease, Kidney cancer, Lung cancer, Lung neoplasms, Ovarian cancer, Ovarian serous carcinoma, Prostate cancer, Pulmonary fibrosis, Telomere-related pulmonary fibrosis and/or bone marrow failure, Respiratory system disease, Squamous cell carcinoma, Telomere syndrome, Ulcerative colitis, Uterine fibroid, X-linked dyskeratosis congenita
Unreviewed: 22q13 monosomy syndrome, Acute Myeloid Leukemia, Adenocarcinoma, Adrenocortical carcinoma, Age-related macular degeneration, Albinism, Alopecia, Anaplastic Astrocytoma, Anaplastic Lymphoma, Anemia, Angioimmunoblastic T-cell lymphoma, Aplastic anemia, Astrocytoma, Atrophy, Autoimmune disease, Autoimmune Diseases, B-Cell Lymphoma, Bardet-Biedl Syndrome, Bone marrow failure syndromes, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiectasis, Burkitt`s Lymphoma, Cataract, Central Nervous System Lymphoma, Central Nervous System Neoplasms, Central Visual Impairment, Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome, Cerebellar Hypoplasia, Cerebral cortical atrophy, Chronic obstructive pulmonary disease, Cirrhosis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal Neoplasms, Common variable immunodeficiency, Congenital Chromosomal Disease, Congestive Heart Failure, Connective Tissue Disease, Corneal dystrophy, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Craniodiaphyseal dysplasia, Crohn Disease, Dermatitis, Developmental Delay, Developmental disability, Diabetes Mellitus, Diffuse interstitial pulmonary fibrosis, Diffuse Lymphoma, Dwarfism, Dyskeratosis Congenita, Dyskeratosis Congenita, X-Linked, Dysplastic Nevus, Enteropathy-Associated T-Cell Lymphoma, Eosinophilia, Epithelioma, Esophageal Stenosis, Extrinsic allergic alveolitis, Gastroesophageal Reflux Disease, Hamman-Rich syndrome, Heart Failure, Hemangiosarcoma, Hematologic Neoplasms, Hematological Disease, High Altitude Pulmonary Edema, High Grade Lymphoma, Hodgkin Disease, Hodgkin Lymphoma, Honeycomb lung, Hoyeraal-Hreidarsson Syndrome, Hydrocephalus, Hypodontia, Hypoplasia of the maxilla, Immune System Diseases, Immune Thrombocytopenic Purpura, Immunologic Deficiency Syndromes, Ischemic Stroke, Leukemia, Leukocyte disorders, Leukopenia, Leukoplakia, Limb-Girdle Muscular Dystrophy, Liver Cancer, Liver carcinoma, Liver failure, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Lymphoproliferative Syndrome, X-Linked, Macular degeneration, Malabsorption Syndrome, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Neoplasm, Malnutrition, Mammary Neoplasms, Mantle Cell Lymphoma, Mental retardation, Microcephaly, Mood disorder, Multiple myeloma, Myelodysplastic Syndrome, Myeloid Leukemia, Myopathy, Nail dystrophy, Nasopharyngeal Carcinoma, Neoplasms, Neuroblastoma, Non-Hodgkin lymphoma, Osteoporosis, Osteosarcoma, Palmoplantar keratoderma, Pancreatic Neoplasm, Pancytopenia, Periodontitis, Piebaldism, Pseudohyperkalemia Cardiff, Pulmonary edema, Pulmonary Fibrosis, Pulmonary fibrosis and/or bone marrow failure, Respiratory Tract Diseases, Reticulosarcoma, Retinoblastoma, Scoliosis, Sezary Syndrome, Skin Erosion, Stroke, T-Cell Lymphoma, Taurodontism, Thrombophilia, Tumor Lysis Syndrome, Vasculitis, Xeroderma Pigmentosum
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6952
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RTEL1-TNFRSF6B readthrough (NMD candidate) |
- |
Curated: N/A
Unreviewed: Ankylosing Spondylitis, Asthma, Central Nervous System Neoplasms, Cholangitis, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal Neoplasms, Crohn Disease, Dermatitis, Dyskeratosis Congenita, Glioblastoma, Glioma, Inflammatory Bowel Disease, Nasopharyngeal Carcinoma, Psoriasis, Pulmonary Fibrosis, Pulmonary fibrosis and/or bone marrow failure, Respiratory Tract Diseases, Ulcerative colitis
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6953
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Regulator of telomere elongation helicase 1 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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6954
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RTF1 homolog, Paf1/RNA polymerase II complex component |
GTL7, KIAA0252 |
Curated: Asthma, Eczema, Coronary artery disease, Metabolic syndrome, Seasonal allergic rhinitis, Diabetes mellitus type 2, Ulcerative colitis
Unreviewed: Allergic rhinitis
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6955
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Replication termination factor 2 |
C20orf43, CDAO5, HSPC164, RTFDC1, SHUJUN-3 |
Curated: Alzheimer disease
Unreviewed: N/A
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6956
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Rhotekin |
RTKN-1 |
Curated: N/A
Unreviewed: Bladder carcinoma, Breast Cancer, Breast Carcinoma, Carcinogenesis, Colon Carcinoma, Colonic Neoplasms, Gastric Cancer, Glioblastoma, Hyperglycemia, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Neoplasms, Stomach Carcinoma, Stomach Neoplasms, Urinary bladder neoplasms
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6957
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Rhotekin 2 |
PLEKHK1, bA531F24.1 |
Curated: Autoimmune thyroid disease, Breast cancer, Cardiovascular disease, Connective tissue disease, Hypothyroidism, Interstitial lung disease, Rheumatoid arthritis, Schizophrenia, Systemic lupus erythematosus
Unreviewed: Bladder carcinoma, Bladder Neoplasm, Breast Carcinoma, Breast neoplasm, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Liver carcinoma, Lupus Erythematosus, Malignant Neoplasm, Neoplasms, Osteosarcoma, Ovarian cancer, Stomach neoplasms, Urinary bladder cancer
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6958
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Retrotransposon Gag like 1 |
HUR1, MART1, Mar1, PEG11, SIRH2 |
Curated: Specific language disorder, Temple syndrome
Unreviewed: Anaplasia, Arthritis, Autoimmune Diseases, B-Cell Lymphoma, Blast phase chronic myelogenous leukemia, Breast Cancer, Breast Carcinoma, Carcinoma, Cognitive disorder, Colitis, Congenital Chromosomal Disease, Developmental Delay, Diabetes Mellitus, Down Syndrome, Erythroblastic Leukemia, Fatty Liver, Fibrosarcoma, Graft-Vs-Host Disease, Hypopigmentation Disorder, Impaired Cognition, Inflammatory Myofibroblastic Tumor, Isodicentric Chromosome 15 Syndrome, Kagami-Ogata Syndrome, Kaufman Oculocerebrofacial Syndrome, Kidney Failure, Leiomyosarcoma, Leukemia, Liver carcinoma, Malignant Neoplasm, Malignant Neoplasm Of Testis, Melanocytic nevus, Melanoma, Metastatic Melanoma, Microphthalmos, Monocytic Leukemia, Myeloid Leukemia, Neoplasm, Neoplasms, Neuroblastoma, Nevus, Non-Alcoholic Fatty Liver Disease, Obesity, Odontogenic Tumor, Pancreatitis, Paternal uniparental disomy of chromosome 14, Perineurioma, Periodontal Diseases, Periodontitis, Psoriasis, Rheumatoid arthritis, Sarcoma, Septicemia, Severe combined immunodeficiency disease, Skin Melanoma, Stroke, Temple Syndrome, Teratozoospermia, Ulcerative colitis, Uveal Melanoma, Uveomeningoencephalitic Syndrome, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS
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6959
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Retrotransposon Gag like 10 |
BOP, C22orf29 |
Curated: N/A
Unreviewed: Autoimmune Diseases, B-Cell Lymphoma, Breast Cancer, Breast Carcinoma, Burkitt`s Lymphoma, Embryonal carcinoma, Gastritis, Glioblastoma, Huntington Disease, Lung carcinoma, Lymphocytic Leukemia, Lymphoma, Malignant Neoplasm, Melanoma, Multiple myeloma, Neoplasms, Parkinson disease, Prostate cancer, Renal Carcinoma, Status Epilepticus, Syndromic microphthalmia
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6960
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Retrotransposon Gag like 3 |
Mar3, Mart3, SIRH9, ZCCHC5, ZHC5 |
Curated: N/A
Unreviewed: Ambiguous Genitalia, Blast phase chronic myelogenous leukemia, Myeloid Leukemia, Neurodegenerative disorder, Neurodegenerative Disorders, Spinal muscular atrophy, Squamous cell carcinoma
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