6232
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CST telomere replication complex component 1 |
AAF-132, AAF132, C17orf68, CRMCC, tmp494178 |
Curated: Bone disease, Brain disease, Calcinosis, Cerebroretinal microangiopathy with calcifications and cysts, Coats plus syndrome, Dyskeratosis congenita, Interstitial lung disease, Metabolic bone disorder, Parkinson disease, Bone marrow failure, Myelodysplastic syndrome, Acute myeloid leukemia
Unreviewed: 22q13 monosomy syndrome, Alopecia, Anemia, Aplastic anemia, Bone marrow failure syndrome, Bone marrow failure syndromes, Carcinoma, Cataract, Cerebroretinal Microangiopathy With Calcifications And Cysts, Cirrhosis, Cleft palate, Coats Disease, Colorectal neoplasm, Corneal dystrophy, Developmental Delay, Dextrocardia, Diabetes Mellitus, Distal myopathy, Dwarfism, Dysarthria, Dyskeratosis Congenita, Epileptic encephalopathy, Esophageal Stenosis, Exudative retinopathy, Glioma, Hemoglobinuria paroxysmal, Hypodontia, Hypoplasia of the maxilla, Idiopathic pulmonary fibrosis, Leukemia, Leukodystrophy, Leukoencephalopathy, Leukoplakia, Liver failure, Lung adenocarcinoma, Lung carcinoma, Lung disease, Lymphoma, Malabsorption Syndrome, Melanoma, Metabolic Bone Disorder, Miller Dieker Syndrome, Monocytic Leukemia, Myelodysplastic Syndrome, Myeloid leukemia, Nail Diseases, Nail dysplasia, Nail dystrophy, Neoplasms, Neuroblastoma, Optic Atrophy, Osteopenia, Osteoporosis, Palmoplantar keratoderma, Pancreatic Neoplasm, Pancytopenia, Paroxysmal nocturnal hemoglobinuria, Periodontitis, Progeria, Retinal detachment, Retinal telangiectasia, Scoliosis, Sleep deprivation, Squamous cell carcinoma, Taurodontism, Tumoral Calcinosis, Vascular ectasia
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6233
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CCCTC-binding factor |
CFAP108, FAP108, MRD21 |
Curated: Alzheimer disease, Neurodevelopmental disorder, Hypothyroidism, Intellectual developmental disorder, Intellectual developmental disorder growth microcephaly, Intellectual developmental disorder dysmorphic microcephaly, Oligodendroglioma, Schizophrenia, Syndromic intellectual disability, Mesothelioma, Clear cell renal cell carcinoma, Bile duct cancer, Ovarian serous carcinoma, Melanoma, B-cell chronic lymphocytic leukemia, Lobular carcinoma, Medulloblastoma, Small cell lung carcinoma, Endometriosis, Gallbladder neoplasms, Myelodysplastic syndrome, Carcinoma, Meningioma, Endometrial hyperplasia, Squamous cell carcinoma, Esophageal squamous cell carcinoma, Carcinoma in situ, Ductal carcinoma of breast, Myelomonocytic leukemia, Colorectal cancer, Cancer, Large cell carcinoma, Bladder cancer, Diffuse large b-cell lymphoma, Leiomyoma, Adenoid cystic carcinoma, Skin cancer, Esophageal adenocarcinoma, Myeloid leukemia, Small cell carcinoma, Non-small cell lung carcinoma, Burkitt lymphoma, Oral cavity carcinoma, Acute myeloid leukemia, Lung cancer, Glioblastoma, Hodgkin lymphoma, Leiomyosarcoma, Glioma, Myeloproliferative disorder, Hepatocellular carcinoma, Differentiated thyroid carcinoma, Peripheral primitive neuroectodermal tumor, Prostate cancer, Transitional cell carcinoma, Basal cell carcinoma, Thyroid carcinoma, Anaplastic oligodendroglioma, Pancreatic ductal carcinoma, Lymphoblastic leukemia, Childhood kidney wilms tumor, Anaplastic astrocytoma, Urinary bladder cancer, Intellectual disability, Pleural epithelioid mesothelioma, Metaplastic breast carcinoma, Mantle cell lymphoma, Gastric tubular adenocarcinoma, Richter transformation, Eccrine porocarcinoma, Gastric intestinal type adenocarcinoma, B-cell non-hodgkin lymphoma, Duodenal adenocarcinoma, Rectal tubular adenoma, Placental choriocarcinoma, T-cell large granular lymphocyte leukemia, Uterine carcinosarcoma, Extramammary paget disease, Pancreatic acinar cell carcinoma, Angiosarcoma, Breast phyllodes tumor, Lentigo maligna melanoma, Immunoblastic lymphadenopathy, Rectum adenocarcinoma, Plasma cell myeloma, Gastric neuroendocrine tumor g1, Gastric adenoma, Cecum adenocarcinoma, Signet ring cell gastric adenocarcinoma, T-cell acute lymphoblastic leukemia, Endometrial serous adenocarcinoma, Endometrial endometrioid adenocarcinoma, Colon adenocarcinoma, Hidradenocarcinoma, Endometrial mixed adenocarcinoma, Small intestine adenocarcinoma, T-cell prolymphocytic leukemia, Uterine corpus adenosarcoma, Appendix adenocarcinoma, Central nervous system primitive neuroectodermal neoplasm, Superficial spreading melanoma, Hepatocellular adenoma, Thyroid gland undifferentiated (anaplastic) carcinoma, Nasal cavity and paranasal sinus carcinoma, Pancreatic neuroendocrine tumor, Small intestinal tubulovillous adenoma, Luminal a breast carcinoma, Conjunctival intraepithelial neoplasm, Breast carcinoma by gene expression profile, Endometrial undifferentiated carcinoma, Adenosquamous lung carcinoma, Skin appendage carcinoma, Nodular malignant melanoma, Acute myeloid leukemia, t(3;5)(q25;q34), Luminal b breast carcinoma, Undifferentiated pleomorphic sarcoma, Gastresophageal junction adenocarcinoma, Peripheral t-cell lymphoma, not otherwise specified, Her2 positive breast carcinoma, Mental retardation, autosomal dominant 21, Intellectual developmental disorder, autosomal dominant 21
Unreviewed: Amyotrophic lateral sclerosis, Anodontia, Arteriosclerosis, Asthenozoospermia, Asthma, Atherosclerosis, Autism, Autoimmune disease, Azoospermia, B-Cell Lymphoma, Beckwith-Wiedemann Syndrome, Benign Prostatic Hyperplasia, Bipolar disorder, Bladder carcinoma, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Capillary infantile hemangioma, Carcinogenesis, Carcinoma Of The Head And Neck, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cockayne Syndrome, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital Myotonic Dystrophy, Congestive Heart Failure, Cornelia De Lange Syndrome, Craniosynostosis, Crohn disease, Cryptorchidism, Deafness, Dementia, Developmental Delay, Developmental disability, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic neuropathy, Down syndrome, Ductal carcinoma, Dwarfism, Dyslipidemias, Dysmorphic Features, Ectrodactyly, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Epileptic Encephalopathy, Epithelial ovarian carcinoma, Facioscapulohumeral Muscular Dystrophy, Fragile X Syndrome, Friedreich Ataxia, Frontotemporal dementia, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Graft-versus-host disease, Granulomatous Slack Skin, Growth disorder, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart Failure, Hemangioma, Hereditary breast and ovarian cancer syndrome, Hyperopia, Hypoxia, Invasive Duct and Lobular Carcinoma, Juvenile arthritis, Kaposi Sarcoma, Kidney Disease, Leukemia, Leukemia, Megakaryoblastic, Of Down Syndrome, Liver Cancer, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative syndrome, Lynch Syndrome, Male breast neoplasms, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Mammary Neoplasms, Mantle Cell Lymphoma, Mental Disorders, Mental retardation, Metabolic Syndrome, Metastatic Prostate Carcinoma, Microcephaly, Movement Disorders, Multiple Congenital Anomalies, Myasthenia gravis, Myotonic dystrophy, Nasopharyngeal carcinoma, Neoplasms, Nephroblastoma, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Oligospermia, Opitz GBBB Syndrome, X-Linked, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatitis, Parkinson disease, Polycystic kidney disease, Promyelocytic Leukemia, Prostatic neoplasm, Prostatic Neoplasms, Renal cell carcinoma, Retinoblastoma, Rett Syndrome, Rhabdomyosarcoma, Rheumatoid arthritis, Russell-Silver Syndrome, Sarcoma, Septicemia, Severe combined immunodeficiency disease, Skin neoplasm, Spinocerebellar Ataxia, Stomach neoplasms, Strabismus, Strawberry Nevus Of Skin, Systemic lupus erythematosus, T-cell leukemia, T-Cell Lymphoma/Leukemia, Teratozoospermia, Trichohepatoenteric Syndrome, Triple negative breast cancer, Tumor, Uterine neoplasm, Williams Syndrome, Wilms tumor
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6235
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CCCTC-binding factor like |
BORIS, CT27, CTCF-T, HMGB1L1, dJ579F20.2 |
Curated: Obesity
Unreviewed: Bladder carcinoma, Breast Cancer, Breast Carcinoma, Breast disease, Breast neoplasm, Capillary infantile hemangioma, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Embryonal Neoplasm, Endometrial Cancer, Endometrial carcinoma, Endometrial hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid carcinoma, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophagus Neoplasm, Friedreich Ataxia, Glioblastoma, Head and neck neoplasm, Hemangioma, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Laryngeal Carcinoma, Laryngeal neoplasm, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Malignant Neoplasm, Malignant Neoplasm Of Testis, Mammary Neoplasms, Melanoma, Metastatic Prostate Carcinoma, Neoplasms, Neuroblastoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Prostatic neoplasm, Pulmonary arterial hypertension, Russell-Silver Syndrome, Septicemia, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strawberry Nevus Of Skin, Testicular neoplasm, Vascular disease
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6240
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CTD nuclear envelope phosphatase 1 |
DULLARD, HSA011916, NET56 |
Curated: N/A
Unreviewed: Macrocephaly, Medulloblastoma
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