Details of Epigenetic Molecule(EM)
| General Information of EM (ID: EM03497) | |||||||
|---|---|---|---|---|---|---|---|
| Official Symbol |
ATXN1
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| Official Full Name |
ataxin 1
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| Synonym |
ATX1;D6S504E;SCA1
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| Molecule Type |
Protein coding
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| Position On Chromosome |
chr6(Start:16299112 - End:16761491)
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| Strand |
-
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| Uniprot Entry | |||||||
| ENSG ID | |||||||
| Dnmivd Disease | |||||||
| Disease Relevance (Click to Show/Hide) | |||||||
| 1B10: Tuberculosis of the respiratory system | Tuberculosis (TB) [Tuberculosis of the respiratory system] | ||||||
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| 1C62: Human immunodeficiency virus disease without mention of tuberculosis or malaria | Acquired immune deficiency syndrome [Human immunodeficiency virus disease without mention of tuberculosis or malaria] | ||||||
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| 1F84: Opisthorchiasis | Opisthorchis viverrini [Opisthorchiasis] | ||||||
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| 2A00: Primary neoplasms of brain | Choroid plexus tumors [Primary neoplasms of brain] | ||||||
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| 2A00: Primary neoplasms of brain | Glioma [Primary neoplasms of brain] | ||||||
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| 2A00: Primary neoplasms of brain | Oligodendroglial tumors [Primary neoplasms of brain] | ||||||
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| 2A01: Primary neoplasms of meninges | Meningioma [Primary neoplasms of meninges] | ||||||
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| 2A90: Mature T-cell lymphoma, specified types, nodal or systemic | Anaplastic large cell lymphoma (ALCL) [Mature T-cell lymphoma, specified types, nodal or systemic] | ||||||
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| 2B50: Chondrosarcoma | Central chondrosarcoma [Chondrosarcoma] | ||||||
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| 2B6B: Malignant neoplasms of nasopharynx | Nasopharyngeal carcinoma (NPC) [Malignant neoplasms of nasopharynx] | ||||||
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| 2B6E: Malignant neoplasms of other or ill-defined sites in the lip, oral cavity or pharynx | Oral or pharyngeal squamous cell carcinoma (OPSCC) [Malignant neoplasms of other or ill-defined sites in the lip, oral cavity or pharynx] | ||||||
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| 2B70: Malignant neoplasms of oesophagus | Barrett's esophagus and esophageal adenocarcinoma [Malignant neoplasms of oesophagus] | ||||||
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| 2B70: Malignant neoplasms of oesophagus | Esophageal adenocarcinoma (EAC) [Malignant neoplasms of oesophagus] | ||||||
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| 2B70: Malignant neoplasms of oesophagus | Esophageal squamous cell carcinoma (ESCC) [Malignant neoplasms of oesophagus] | ||||||
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| 2B72: Malignant neoplasms of stomach | Gastric cancer [Malignant neoplasms of stomach] | ||||||
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| 2B72: Malignant neoplasms of stomach | Gastric primary tumor [Malignant neoplasms of stomach] | ||||||
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| 2B80: Malignant neoplasms of small intestine | Small intestinal neuroendocrine tumours (SINETs) [Malignant neoplasms of small intestine] | ||||||
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| 2B90: Malignant neoplasms of colon | Colon adenocarcinoma [Malignant neoplasms of colon] | ||||||
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| 2B90: Malignant neoplasms of colon | Colorectal cancer [Malignant neoplasms of colon] | ||||||
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| 2B92: Malignant neoplasms of rectum | Rectal cancer [Malignant neoplasms of rectum] | ||||||
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| 2C10: Malignant neoplasm of pancreas | Pancreatic ductal adenocarcinoma (PDAC) [Malignant neoplasm of pancreas] | ||||||
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| 2C12: Malignant neoplasms of liver or intrahepatic bile ducts | Liver cancer [Malignant neoplasms of liver or intrahepatic bile ducts] | ||||||
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| 2C25: Malignant neoplasms of bronchus or lung | Lung adenocarcinoma [Malignant neoplasms of bronchus or lung] | ||||||
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| 2C25: Malignant neoplasms of bronchus or lung | Lung cancer [Malignant neoplasms of bronchus or lung] | ||||||
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| 2C25: Malignant neoplasms of bronchus or lung | Non small cell lung cancer (NSCLC) [Malignant neoplasms of bronchus or lung] | ||||||
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| 2C30: Melanoma of skin | Cutaneous Melanoma [Melanoma of skin] | ||||||
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| 2C31: Squamous cell carcinoma of skin | Cutaneous squamous cell carcinoma [Squamous cell carcinoma of skin] | ||||||
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| 2C60: Carcinoma of breast | Breast cancer [Carcinoma of breast] | ||||||
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| 2C73: Malignant neoplasms of ovary | High grade serous ovarian cancer (HGSOC) [Malignant neoplasms of ovary] | ||||||
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| 2C73: Malignant neoplasms of ovary | Ovarian carcinoma (OVCA) [Malignant neoplasms of ovary] | ||||||
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| 2C73: Malignant neoplasms of ovary | Ovarian serous adenocarcinoma (OSA) [Malignant neoplasms of ovary] | ||||||
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| 2C82: Malignant neoplasms of prostate | Prostate cancer [Malignant neoplasms of prostate] | ||||||
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| 2D10: Malignant neoplasms of thyroid gland | Thyroid tumors [Malignant neoplasms of thyroid gland] | ||||||
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| 4A40: Lupus erythematosus | Systemic lupus erythematosus (SLE) [Lupus erythematosus] | ||||||
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| 4A43: Overlap or undifferentiated nonorgan specific systemic autoimmune disease | Sjgren's Syndrome [Overlap or undifferentiated nonorgan specific systemic autoimmune disease] | ||||||
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| 5A02: Thyrotoxicosis | Graves' disease [Thyrotoxicosis] | ||||||
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| 5A61: Hypofunction or certain specified disorders of pituitary gland | Congenital hypopituitarism [Hypofunction or certain specified disorders of pituitary gland] | ||||||
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| 5A80: Ovarian dysfunction | Polycystic ovarian syndrome (PCOS) [Ovarian dysfunction] | ||||||
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| 5B81: Obesity | Obesity [Obesity] | ||||||
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| 6A00: Disorders of intellectual development | Intellectual disability [Disorders of intellectual development] | ||||||
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| 6A00: Disorders of intellectual development | Intellectual disability and congenital anomalies(ID/CA) [Disorders of intellectual development] | ||||||
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| 6A02: Autism spectrum disorder | Autism [Autism spectrum disorder] | ||||||
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| 6A20: Schizophrenia | Schizophrenia [Schizophrenia] | ||||||
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| 6B01: Panic disorder | Panic Disorder [Panic disorder] | ||||||
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| 6C40: Disorders due to use of alcohol | Alcohol use disorder (AUD) [Disorders due to use of alcohol] | ||||||
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| 6C4A: Disorders due to use of nicotine | Nicotine dependent [Disorders due to use of nicotine] | ||||||
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| 6E8Z: Mental, behavioural or neurodevelopmental disorders | Psychiatric disorders [Mental, behavioural or neurodevelopmental disorders] | ||||||
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| 8A00: Parkinsonism | Parkinson's disease (PD) [Parkinsonism] | ||||||
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| 8A01: Choreiform disorders | Huntington's disease (HD) [Choreiform disorders] | ||||||
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| 8A20: Alzheimer disease | Alzheimer's disease [Alzheimer disease] | ||||||
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| 8A40: Multiple sclerosis | Multiple sclerosis [Multiple sclerosis] | ||||||
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| 8E49: Postviral fatigue syndrome | Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) [Postviral fatigue syndrome] | ||||||
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| 9A01: Infectious disorders of eyelid | Human eye and its diseases [Infectious disorders of eyelid] | ||||||
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| BC81: Supraventricular tachyarrhythmia | Atrial fibrillation [Supraventricular tachyarrhythmia] | ||||||
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| BD40: Atherosclerotic chronic arterial occlusive disease | Atherosclerosis [Atherosclerotic chronic arterial occlusive disease] | ||||||
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| CA22: Chronic obstructive pulmonary disease | Chronic obstructive pulmonary disease (COPD) [Chronic obstructive pulmonary disease] | ||||||
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| CA23: Asthma | Allergic asthma [Asthma] | ||||||
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| CA23: Asthma | Asthma [Asthma] | ||||||
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| CB03: Idiopathic interstitial pneumonitis | Idiopathic pulmonary fibrosis (IPF) [Idiopathic interstitial pneumonitis] | ||||||
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| DA0C: Periodontal disease | Periodontitis [Periodontal disease] | ||||||
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| DB92: Non-alcoholic fatty liver disease | Nonalcoholic fatty liver disease (NAFLD) [Non-alcoholic fatty liver disease] | ||||||
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| DB93: Hepatic fibrosis or cirrhosis | Cirrhotic [Hepatic fibrosis or cirrhosis] | ||||||
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| DD70: Crohn disease | Crohn's disease [Crohn disease] | ||||||
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| EE60: Keloid or hypertrophic scars | Keloid [Keloid or hypertrophic scars] | ||||||
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| FA0Z: Osteoarthritis | Osteoarthritis (OA) [Osteoarthritis] | ||||||
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| FA20: Rheumatoid arthritis | Rheumatoid arthritis [Rheumatoid arthritis] | ||||||
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| FA21: Psoriatic arthritis | Psoriatic [Psoriatic arthritis] | ||||||
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| GA10: Endometriosis | Endometriosis [Endometriosis] | ||||||
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| JA24: Pre-eclampsia | Preeclampsia (PE) [Pre-eclampsia] | ||||||
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| KA21: Disorders of newborn related to short gestation or low birth weight | Preterm birth [Disorders of newborn related to short gestation or low birth weight] | ||||||
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| LA02: Spina bifida | Neural tube defects (NTDs) [Spina bifida] | ||||||
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| LA4Z: Clefts of lip, alveolus or palate | Non-syndromic cleft lip and palate [Clefts of lip, alveolus or palate] | ||||||
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| LD2B: Syndromes with premature ageing appearance as a major feature | Premature aging diseases [Syndromes with premature ageing appearance as a major feature] | ||||||
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| LD2C: Overgrowth syndromes | Sotos syndrome(SS) [Overgrowth syndromes] | ||||||
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| LD2F: Syndromes with multiple structural anomalies, without predominant body system involvement | Silver russell syndrome [Syndromes with multiple structural anomalies, without predominant body system involvement] | ||||||
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| LD2FZERO(Not Found)0: Toxic or drug-related embryofetopathies | Fetal alcohol spectrum disorder (FASD) [Toxic or drug-related embryofetopathies] | ||||||
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| LD40: Complete trisomies of the autosomes | Down syndrome (DS) [Complete trisomies of the autosomes] | ||||||
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| LD44: Deletions of the autosomes | Deletion or duplication of chromosome 7q11.23 [Deletions of the autosomes] | ||||||
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| LD55: Fragile X chromosome | Fragile X syndrome (FXS) [Fragile X chromosome] | ||||||
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| SD86: Dementia disorder | Dementia [Dementia disorder] | ||||||
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| SE30: Developmental delay disorder | CHARGE and Kabuki syndromes [Developmental delay disorder] | ||||||
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| XB1Y: Familial | Familial recurrent moles (RHM) [Familial] | ||||||
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| XB8M: Congenital | Melanoma [Congenital] | ||||||
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| XH0945: Squamous cell carcinoma | Head and neck squamous cell cancer (HNSCC) [Squamous cell carcinoma] | ||||||
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| XH1511: Ependymoma | Posterior fossa ependymoma [Ependymoma] | ||||||
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| XH1E13: Germinoma | Germinoma [Germinoma] | ||||||
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| XH1ND9: Papillary carcinoma of thyroid | Papillary thyroid carcinoma [Papillary carcinoma of thyroid] | ||||||
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| XH1XF3: Osteosarcoma | Osteosarcoma [Osteosarcoma] | ||||||
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| XH3DV3: Adenoma | Adenoma [Adenoma] | ||||||
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| XH4546: Signet ring cell carcinoma | Signet ring cell colorectal cancer [Signet ring cell carcinoma] | ||||||
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| XH46F1: Clear cell renal cell carcinoma | Clear cell renal cell carcinoma (ccRCC) [Clear cell renal cell carcinoma] | ||||||
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| XH4CY6: Leiomyoma | Leiomyoma [Leiomyoma] | ||||||
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| XH4KA9: Burkitt lymphoma | Burkitt Lymphoma [Burkitt lymphoma] | ||||||
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| XH4KH2: Adrenal cortical carcinoma | Adrenal cortical cancer [Adrenal cortical carcinoma] | ||||||
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| XH4S92: Leukaemia | Leukemia [Leukaemia] | ||||||
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| XH4S92: Leukaemia | Mixed phenotype acute leukemia (MPAL) [Leukaemia] | ||||||
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| XH4V32: Ductal carcinoma in situ | Ductal carcinoma in situ (DCIS) [Ductal carcinoma in situ] | ||||||
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| XH4W48: Hepatocellular carcinoma | Hepatocellular carcinoma (HCC) [Hepatocellular carcinoma] | ||||||
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| XH4XG8: Chronic myeloid leukaemia | Chronic Phase-Chronic Myeloid Leukemia [Chronic myeloid leukaemia] | ||||||
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| XH5QN3: Nephroblastoma | Wilms tumor [Nephroblastoma] | ||||||
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| XH68V1: Liver cell adenoma | Hepatocellular adenoma [Liver cell adenoma] | ||||||
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| XH6PH6: Astrocytoma | Astrocytoma [Astrocytoma] | ||||||
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| XH74S1: Adenocarcinoma | Small bowel adenocarcinoma [Adenocarcinoma] | ||||||
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| XH7F82: Glioblastoma | Glioblastoma [Glioblastoma] | ||||||
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| XH7PW5: Lymphocytic leukaemia | Pediatric acute lymphoblastic leukemia [Lymphocytic leukaemia] | ||||||
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| XH7ZQ4: Atypical teratoid/rhabdoid tumour | Atypical teratoid/rhabdoid tumor (ATRT) [Atypical teratoid/rhabdoid tumour] | ||||||
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| XH85Z0: Neuroblastoma | Neuroblastoma [Neuroblastoma] | ||||||
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| XH8844: Oligodendroglioma, anaplastic | Anaplastic oligodendrogliomas/oligoastrocytomas [Oligodendroglioma, anaplastic] | ||||||
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| XH8AA5: Acute myeloid leukaemia | Acute myeloid leukemia (AML) [Acute myeloid leukaemia] | ||||||
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| XH8D74: Carcinomatosis | Cancer [Carcinomatosis] | ||||||
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| XH8P29: Medulloblastoma | Medulloblastoma [Medulloblastoma] | ||||||
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| XH8P29: Medulloblastoma | Primary medulloblastoma [Medulloblastoma] | ||||||
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| XH8SH6: CNS embryonal tumour | Primitive neuroectodermal tumors [CNS embryonal tumour] | ||||||
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| XH94U0: Pituitary adenoma | Nonfunctioning pituitary adenomas [Pituitary adenoma] | ||||||
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| XH98Z3: Schwannoma | Schwannoma [Schwannoma] | ||||||
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| XH9HQ1: Gastrointestinal stromal tumour | Gastrointestinal stromal tumors (GIST) [Gastrointestinal stromal tumour] | ||||||
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| XN3DY: Helicobacter pylori | Helicobacter pylori infection [Helicobacter pylori] | ||||||
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| XN487: Human immunodeficiency virus | Human immunodeficiency virus (HIV) [Human immunodeficiency virus] | ||||||
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| ZERO(Not Found): Acute mania and inflammatory | Acute mania and inflammatory [Acute mania and inflammatory] | ||||||
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| ZERO(Not Found): Constitutional MLH1 epimutations | Constitutional MLH1 epimutations [Constitutional MLH1 epimutations] | ||||||
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| Metabolite(s) with this epigenetic modification | |||||||
|---|---|---|---|---|---|---|---|
| Metabolite Name: Valerate | |||||||
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Meta Info
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[1], [2] | |||||
| Description |
Valerate has been shown to hypermethylate ATXN1 CpG site in breast cancer cells.
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| Protein(s) with this epigenetic modification | |||||||
|---|---|---|---|---|---|---|---|
| Protein Name: Rv2966c | |||||||
| Detailed Information |
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[3] | |||||
| Description |
Rv2966c could hypermethylate the non-CpG dinucleotides at the host ATXN1 (geneBody) genetic loci during Mycobacterium tuberculosis H37Rv infection.
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