eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ataxia-telangiectasia | ||||
| Disease ID | 94 |
|---|---|
| Disease | ataxia-telangiectasia |
| Definition | An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23). |
| Synonym | at at, complementation group a at, complementation group c at, complementation group d at, complementation group e at1 ataxia telangiectasia ataxia telangiectasia (atm) ataxia telangiectasia [disease/finding] ataxia telangiectasia syndrome ataxia, telangiectasia ataxia-telangiectasia syndrome ataxia-telangiectasia syndrome (disorder) atc atd ate atm louis bar syndrome louis-bar syndrome syndrome, ataxia telangiectasia syndrome, louis-bar telangiectasia, cerebello-oculocutaneous |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0004135 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0024299 | lymphoma | 3 C0006142 | breast cancer | 2 C0023418 | leukemia | 1 C0677607 | hashimoto thyroiditis | 1 C0019829 | hodgkin lymphoma | 1 C0040147 | thyroiditis | 1 C0023467 | acute myeloid leukaemia | 1 C0002880 | autoimmune hemolytic anemia | 1 C0021053 | immune disorder | 1 C0023448 | lymphocytic leukemia | 1 C0149925 | small cell lung cancer | 1 C0002871 | anemia | 1 C0334634 | mantle cell lymphoma | 1 C0023418 | leukaemia | 1 C0007131 | non-small cell lung cancer | 1 C0021053 | immune disorders | 1 C0079731 | b-cell lymphoma | 1 C0013338 | growth hormone deficiency | 1 C0002878 | hemolytic anemia | 1 C0242379 | lung cancer | 1 C0004153 | atherosclerosis | 1 C0023470 | myeloid leukaemia | 1 C0079744 | diffuse large b-cell lymphoma | 1 C0023434 | chronic lymphocytic leukemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:157) 25 | ABL1 | 2.358 | DISEASES 174 | AFP | 4.083 | DISEASES 353 | APRT | 1.451 | DISEASES 54840 | APTX | 4.99 | DISEASES 85300 | ATCAY | 1.506 | DISEASES 467 | ATF3 | 1.709 | DISEASES 286410 | ATP11C | 1.723 | DISEASES 545 | ATR | 4.29 | DISEASES 84126 | ATRIP | 1.496 | DISEASES 546 | ATRX | 1.587 | DISEASES 9031 | BAZ1B | 1.361 | DISEASES 27113 | BBC3 | 1.132 | DISEASES 8315 | BRAP | 1.47 | DISEASES 672 | BRCA1 | 3.975 | DISEASES 675 | BRCA2 | 3.402 | DISEASES 79184 | BRCC3 | 2.705 | DISEASES 773 | CACNA1A | 1.584 | DISEASES 9973 | CCS | 1.262 | DISEASES 916 | CD3E | 1.744 | DISEASES 917 | CD3G | 1.763 | DISEASES 959 | CD40LG | 3.161 | DISEASES 995 | CDC25C | 3.033 | DISEASES 8318 | CDC45 | 1.166 | DISEASES 983 | CDK1 | 1.735 | DISEASES 1029 | CDKN2A | 1.093 | DISEASES 1111 | CHEK1 | 4.881 | DISEASES 11200 | CHEK2 | 4.812 | DISEASES 1120 | CHKB | 2 | DISEASES 9244 | CRLF1 | 1.18 | DISEASES 8065 | CUL5 | 2.767 | DISEASES 7818 | DAP3 | 1.894 | DISEASES 55157 | DARS2 | 1.513 | DISEASES 80067 | DCAF17 | 1.171 | DISEASES 64421 | DCLRE1C | 2.602 | DISEASES 7913 | DEK | 2.487 | DISEASES 1730 | DIAPH2 | 1.128 | DISEASES 1813 | DRD2 | 1.564 | DISEASES 11221 | DUSP10 | 1.168 | DISEASES 1869 | E2F1 | 1.1 | DISEASES 1978 | EIF4EBP1 | 1.33 | DISEASES 57634 | EP400 | 1.249 | DISEASES 2113 | ETS1 | 2.288 | DISEASES 2175 | FANCA | 1.316 | DISEASES 2280 | FKBP1A | 1.94 | DISEASES 642489 | FKBP1C | 2.035 | DISEASES 2395 | FXN | 1.342 | DISEASES 1647 | GADD45A | 3.368 | DISEASES 2643 | GCH1 | 1.428 | DISEASES 2737 | GLI3 | 1.524 | DISEASES 29933 | GPR132 | 2.234 | DISEASES 2993 | GYPA | 1.384 | DISEASES 3005 | H1F0 | 2.127 | DISEASES 3014 | H2AFX | 4.639 | DISEASES 3010 | HIST1H1T | 1.987 | DISEASES 8359 | HIST1H4A | 2.076 | DISEASES 8366 | HIST1H4B | 2.076 | DISEASES 8364 | HIST1H4C | 2.076 | DISEASES 8360 | HIST1H4D | 2.075 | DISEASES 8367 | HIST1H4E | 2.076 | DISEASES 8361 | HIST1H4F | 2.076 | DISEASES 8294 | HIST1H4I | 2.076 | DISEASES 8363 | HIST1H4J | 2.076 | DISEASES 8362 | HIST1H4K | 2.076 | DISEASES 8368 | HIST1H4L | 2.076 | DISEASES 8337 | HIST2H2AA3 | 1.977 | DISEASES 8338 | HIST2H2AC | 1.977 | DISEASES 8370 | HIST2H4A | 2.076 | DISEASES 554313 | HIST2H4B | 2.076 | DISEASES 121504 | HIST4H4 | 2.076 | DISEASES 3376 | IARS | 2.321 | DISEASES 80173 | IFT74 | 2.111 | DISEASES 8660 | IRS2 | 2.359 | DISEASES 9636 | ISG15 | 2.161 | DISEASES 133746 | JMY | 1.916 | DISEASES 3725 | JUN | 1.985 | DISEASES 10524 | KAT5 | 2.905 | DISEASES 3748 | KCNC3 | 1.019 | DISEASES 3981 | LIG4 | 2.51 | DISEASES 80059 | LRRTM4 | 2.46 | DISEASES 259215 | LY6G6F | 2.521 | DISEASES 4067 | LYN | 1.095 | DISEASES 116372 | LYPD1 | 1.285 | DISEASES 5599 | MAPK8 | 1.006 | DISEASES 2011 | MARK2 | 1.895 | DISEASES 9656 | MDC1 | 2.511 | DISEASES 4193 | MDM2 | 2.708 | DISEASES 4194 | MDM4 | 1.053 | DISEASES 4508 | MT-ATP6 | 1.163 | DISEASES 4515 | MTCP1 | 2.339 | DISEASES 2475 | MTOR | 1.609 | DISEASES 4609 | MYC | 1.904 | DISEASES 4638 | MYLK | 1.045 | DISEASES 4649 | MYO9A | 1.789 | DISEASES 65065 | NBEAL1 | 2.086 | DISEASES 79840 | NHEJ1 | 2.259 | DISEASES 4857 | NOVA1 | 1.198 | DISEASES 81788 | NUAK2 | 1.532 | DISEASES 142 | PARP1 | 1.907 | DISEASES 84875 | PARP10 | 2.194 | DISEASES 22976 | PAXIP1 | 1.474 | DISEASES 118425 | PCAT4 | 1.616 | DISEASES 5164 | PDK2 | 1.289 | DISEASES 23533 | PIK3R5 | 1.265 | DISEASES 79156 | PLEKHF1 | 1.457 | DISEASES 11284 | PNKP | 1.231 | DISEASES 5429 | POLH | 1.656 | DISEASES 10775 | POP4 | 2.127 | DISEASES 5501 | PPP1CC | 1.038 | DISEASES 5727 | PTCH1 | 1.135 | DISEASES 5884 | RAD17 | 2.422 | DISEASES 5886 | RAD23A | 1.445 | DISEASES 5888 | RAD51 | 3.01 | DISEASES 5893 | RAD52 | 2.932 | DISEASES 25788 | RAD54B | 1.407 | DISEASES 57038 | RARS2 | 1.262 | DISEASES 5932 | RBBP8 | 2.183 | DISEASES 5985 | RFC5 | 1.99 | DISEASES 28984 | RGCC | 1.344 | DISEASES 165918 | RNF168 | 3.249 | DISEASES 9025 | RNF8 | 2.054 | DISEASES 6118 | RPA2 | 4.085 | DISEASES 26278 | SACS | 3.244 | DISEASES 27244 | SESN1 | 1.37 | DISEASES 6545 | SLC7A4 | 1.392 | DISEASES 23049 | SMG1 | 2.21 | DISEASES 30837 | SOCS7 | 1.084 | DISEASES 6667 | SP1 | 1.079 | DISEASES 10638 | SPHAR | 2.398 | DISEASES 23626 | SPO11 | 1.503 | DISEASES 6794 | STK11 | 1.494 | DISEASES 11075 | STMN2 | 1.079 | DISEASES 11171 | STRAP | 1.425 | DISEASES 23353 | SUN1 | 1.452 | DISEASES 6919 | TCEA2 | 1.774 | DISEASES 6920 | TCEA3 | 1.79 | DISEASES 9623 | TCL1B | 2.498 | DISEASES 55775 | TDP1 | 1.728 | DISEASES 7054 | TH | 1.155 | DISEASES 79022 | TMEM106C | 2.132 | DISEASES 7150 | TOP1 | 2.97 | DISEASES 7156 | TOP3A | 1.162 | DISEASES 63970 | TP53AIP1 | 1.287 | DISEASES 7158 | TP53BP1 | 3.351 | DISEASES 11257 | TP53TG1 | 2.455 | DISEASES 23650 | TRIM29 | 4.155 | DISEASES 7204 | TRIO | 1.31 | DISEASES 79465 | ULBP3 | 1.196 | DISEASES 9605 | VPS9D1 | 2.607 | DISEASES 342865 | VSTM2B | 3.027 | DISEASES 7465 | WEE1 | 1.665 | DISEASES 7507 | XPA | 2.196 | DISEASES 7516 | XRCC2 | 2.191 | DISEASES 7518 | XRCC4 | 2.602 | DISEASES 7520 | XRCC5 | 3.263 | DISEASES 2547 | XRCC6 | 2.811 | DISEASES 7539 | ZFP37 | 2.453 | DISEASES 9745 | ZNF536 | 2.848 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ATM | 11q22.3 |
| Disease ID | 94 |
|---|---|
| Disease | ataxia-telangiectasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:37) HP:0000639 | Nystagmus HP:0002216 | Premature graying of hair HP:0000496 | Abnormality of eye movement HP:0100543 | Cognitive impairment HP:0004322 | Short stature HP:0002715 | Abnormality of the immune system HP:0100585 | Telangiectasia of the skin HP:0007495 | Prematurely aged appearance HP:0100579 | Mucosal telangiectasiae HP:0001260 | Dysarthria HP:0002205 | Recurrent respiratory infections HP:0001257 | Spasticity HP:0001251 | Ataxia HP:0005374 | Cellular immunodeficiency HP:0000486 | Strabismus HP:0002167 | Neurological speech impairment HP:0004313 | Decreased antibody level in blood HP:0001888 | Lymphopenia HP:0000147 | Polycystic ovaries HP:0003220 | Abnormality of chromosome stability HP:0001250 | Seizures HP:0005978 | Type II diabetes mellitus HP:0002664 | Neoplasm HP:0001288 | Gait disturbance HP:0005599 | Hypopigmentation of hair HP:0100022 | Abnormality of movement HP:0001508 | Failure to thrive HP:0000823 | Delayed puberty HP:0010515 | Aplasia/Hypoplasia of the thymus HP:0002910 | Elevated hepatic transaminases HP:0002721 | Immunodeficiency HP:0001337 | Tremor HP:0000819 | Diabetes mellitus HP:0007565 | Multiple cafe-au-lait spots HP:0008065 | Aplasia/Hypoplasia of the skin HP:0003202 | Skeletal muscle atrophy HP:0000035 | Abnormality of the testis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0002665 | Lymphoma | 3 HP:0003002 | Breast carcinoma | 2 HP:0002721 | Immunodeficiency | 2 HP:0012191 | B-cell lymphoma | 1 HP:0012189 | Hodgkin disease | 1 HP:0030357 | Small cell lung carcinoma | 1 HP:0000824 | Growth hormone deficiency | 1 HP:0002960 | Autoimmune condition | 1 HP:0001890 | Autoimmune hemolytic anemia | 1 HP:0001903 | Anemia | 1 HP:0002621 | Atherosclerosis | 1 HP:0001878 | Haemolytic anaemia | 1 HP:0005550 | Chronic lymphatic leukemia | 1 HP:0001909 | Leukemia | 1 HP:0100646 | Thyroiditis | 1 HP:0000872 | Hashimoto's thyroiditis | 1 HP:0002180 | Neurodegeneration | 1 HP:0030358 | Non-small cell lung carcinoma | 1 HP:0012190 | T cell lymphoma | 1 |
| Disease ID | 94 |
|---|---|
| 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 | UMLS | Name | Sentences' Count(Total Symptoms:5) C0024299 | lymphoma | 3 C0021051 | immunodeficiency | 2 C0006142 | breast cancer | 2 C0023418 | leukemia | 1 C0023418 | leukaemia | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| ATM | NM_000051.3: c.1810C>T, p.(Pro604Ser) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:52) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0003220 | Abnormality of chromosome stability | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0000035 | Abnormality of the testis | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0002216 | Premature graying of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0005599 | Hypopigmentation of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0004313 | Decreased antibody level in blood | MP:0011460 | decreased urine chloride ion level | abnormally low amounts of chloride ion in the urine |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
Mapped by homologous gene(Total Items:37) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005599 | Hypopigmentation of hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0100579 | Mucosal telangiectasiae | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002216 | Premature graying of hair | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0000035 | Abnormality of the testis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003220 | Abnormality of chromosome stability | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0005374 | Cellular immunodeficiency | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0004313 | Decreased antibody level in blood | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001888 | Lymphopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000147 | Polycystic ovaries | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000496 | Abnormality of eye movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008065 | Aplasia/Hypoplasia of the skin | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| Disease ID | 94 |
|---|---|
| Disease | ataxia-telangiectasia |
| Case | (Waiting for update.) |