ataxia-telangiectasia |
Disease ID | 258 |
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Disease | ataxia-telangiectasia |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0000147 | Polycystic ovaries HP:0000823 | Delayed puberty HP:0100585 | Telangiectasia of the skin HP:0000496 | Abnormality of eye movement HP:0004322 | Short stature HP:0001251 | Ataxia HP:0007495 | Prematurely aged appearance HP:0004313 | Decreased antibody level in blood HP:0000819 | Diabetes mellitus HP:0000486 | Strabismus HP:0001250 | Seizures HP:0002715 | Abnormality of the immune system HP:0100543 | Cognitive impairment HP:0001260 | Dysarthria HP:0001888 | Lymphopenia HP:0001257 | Spasticity HP:0002664 | Neoplasm HP:0003220 | Abnormality of chromosome stability HP:0002910 | Elevated hepatic transaminases HP:0005978 | Type II diabetes mellitus HP:0007565 | Multiple cafe-au-lait spots HP:0005599 | Hypopigmentation of hair HP:0002167 | Neurological speech impairment HP:0008065 | Aplasia/Hypoplasia of the skin HP:0002205 | Recurrent respiratory infections HP:0000639 | Nystagmus HP:0010515 | Aplasia/Hypoplasia of the thymus HP:0002216 | Premature graying of hair HP:0000035 | Abnormality of the testis HP:0005374 | Cellular immunodeficiency HP:0100022 | Abnormality of movement HP:0001508 | Failure to thrive HP:0100579 | Mucosal telangiectasiae HP:0003202 | Skeletal muscle atrophy HP:0002721 | Immunodeficiency HP:0001288 | Gait disturbance HP:0001337 | Tremor |
Text Mined Phenotype | (Waiting for update.) |
Disease ID | 258 |
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Disease | ataxia-telangiectasia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:37) C2707258 | infections C1961099 | t acute lymphoblastic leukemia C1744558 | t cell deficiency C0876973 | pulmonary infections C0855211 | testicular seminoma C0740279 | cerebellar atrophy C0678222 | breast cancer C0398701 | igg2 deficiency C0341714 | renal lymphoma C0278701 | gastric adenocarcinoma C0235031 | neurological symptoms C0235031 | neurologic symptoms C0235031 | nervous system symptoms C0231341 | premature aging C0206658 | smooth muscle tumors C0206062 | interstitial lung disease C0178650 | gammopathy C0162539 | igg subclass deficiency C0154251 | lipid metabolism disorder C0151313 | sensory neuropathy C0037284 | skin lesion C0024299 | lymphomas C0024299 | lymphoma C0024115 | lung disease C0023492 | t-cell leukemia C0023467 | acute myeloid leukemia C0021053 | immunologic disorders C0021053 | immune disorders C0021051 | immunodeficiency C0020455 | hypergammaglobulinemia C0019829 | hodgkin disease C0019348 | herpes simplex virus infection C0019214 | hepatosplenomegaly C0019156 | hepatic veno-occlusive disease C0011849 | diabetes mellitus C0006272 | bronchiolitis obliterans C0001418 | adenocarcinoma |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:52) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1137887 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108256340 | G | A,C |
rs121434220 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108330233 | C | T |
rs139770721 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108315911 | G | A |
rs1800054 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227849 | C | G,T |
rs1800054 | 21396839 | 472 | ATM | umls:C0004135 | BeFree | Eight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302His), CASP10 (Val410Ile), LGALS3 (Pro64His), RASSF1 (Ser133Ala), TP53 (Arg72Pro), and TP53AIP1 (Ala7Val), and two non-coding SNPs were selected in BCL2 (-938C/A) and HDM2 (SNP309). | 0.708689197 | 2013 | ATM | 11 | 108227849 | C | G,T |
rs193922136 | 23538518 | 959 | CD40LG | umls:C0004135 | BeFree | In contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype. | 0.000542884 | 2014 | CD40LG | X | 136659390 | C | T |
rs193922136 | 23538518 | 57379 | AICDA | umls:C0004135 | BeFree | In contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype. | 0.000271442 | 2014 | CD40LG | X | 136659390 | C | T |
rs201686625 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108248927 | T | G |
rs202206540 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108316069 | G | A |
rs28904921 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108329202 | T | G |
rs532480170 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108316015 | C | A,T |
rs557012154 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108244927 | C | T |
rs55861249 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227806 | C | A,T |
rs564652222 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108325416 | C | T |
rs587776549 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108272813 | ATC | TGAT |
rs587776551 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108281168 | G | A |
rs587776552 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108270483 | GTAA | - |
rs587778077 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108304830 | - | A |
rs587779815 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108250804 | C | T |
rs587779817 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108251029 | GA | - |
rs587779818 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227873 | G | A |
rs587779833 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108279578 | C | G |
rs587779834 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108284282 | G | - |
rs587779844 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108301698 | C | T |
rs587779846 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108301760 | C | - |
rs587780612 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108247086 | AAAG | - |
rs587780624 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108235815 | ATCTC | - |
rs587781347 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108250867 | AA | - |
rs587781558 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108271147 | G | A,C,T |
rs587781672 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108329027 | G | T |
rs587781722 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108310305 | C | T |
rs587781730 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108307934 | - | A |
rs587781927 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108293479 | T | C |
rs587782276 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108287598 | A | G |
rs730881346 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108257471 | T | G |
rs751357509 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108251026 | AG | - |
rs764389018 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108301658 | C | T |
rs772821016 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108244873 | C | T |
rs774185390 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227843 | C | G |
rs780619951 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108259022 | C | T |
rs781404312 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227627 | G | A |
rs786202695 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108268491 | GTGT | - |
rs786203606 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227626 | T | C |
rs786204088 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108227697 | G | A |
rs786204433 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108304822 | C | T |
rs786204543 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108244096 | T | - |
rs786204737 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108250989 | T | - |
rs786204751 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108304693 | C | T |
rs796051856 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108329210 | CTTAGG | - |
rs797045030 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108315865 | - | A |
rs797045114 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108288978 | G | - |
rs863225466 | NA | 472 | ATM | umls:C0004135 | CLINVAR | NA | 0.708689197 | NA | ATM | 11 | 108320021 | GA | - |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:0) | |
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(Waiting for update.) |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |