eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| wolfram syndrome | ||||
| Disease ID | 230 |
|---|---|
| Disease | wolfram syndrome |
| Definition | A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein. |
| Synonym | diabetes insipidus and mellitus with optic atrophy and deafness diabetes insipidus, diabetes mellitus, optic atrophy and deafness diabetes insipidus, diabetes mellitus, optic atrophy, and deafness diabetes insipidus,diabetes mellitus, optic atrophy and deafness diabetes insipidus,diabetes mellitus, optic atrophy and deafness (disorder) diabetes mellitus and insipidus with optic atrophy and deafness diabetes mellitus and insipidus with optic atrophy and deafness (disorder) didmoad didmoad - diabetes insipidus, diabetes mellitus, optic atrophy and deafness didmoad - diabetes insipidus,diabetes mellitus, optic atrophy and deafness didmoad syndrome didmoadud marquardt-loriaux syndrome syndrome, wolfram wfs wfs1 wolfram syndrome 1 wolfram syndrome [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0043207 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0011847 | diabetes | 13 C0011860 | type 2 diabetes | 5 C0043207 | wolfram syndrome | 4 C0011849 | diabetes mellitus | 3 C0010068 | coronary artery disease | 1 C0029124 | optic atrophy | 1 C0011854 | juvenile onset diabetes mellitus | 1 C0011860 | type 2 diabetes mellitus | 1 C0442874 | neuropathy | 1 C0029132 | optic neuropathy | 1 C0039841 | thiamine deficiency | 1 C0086543 | cataract | 1 C0878544 | cardiomyopathy | 1 C0011854 | type 1 diabetes | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:84) 23365 | ARHGEF12 | 1.417 | DISEASES 491 | ATP2B2 | 3.17 | DISEASES 491 | ATP2B2 | 2.123 | DISEASES 493 | ATP2B4 | 3.119 | DISEASES 493 | ATP2B4 | 2.072 | DISEASES 551 | AVP | 2.399 | DISEASES 551 | AVP | 1.749 | DISEASES 554 | AVPR2 | 1.529 | DISEASES 8678 | BECN1 | 2.021 | DISEASES 79680 | C22orf29 | 1.236 | DISEASES 64072 | CDH23 | 2.508 | DISEASES 1020 | CDK5 | 1.48 | DISEASES 55847 | CISD1 | 3.572 | DISEASES 284106 | CISD3 | 3.59 | DISEASES 1188 | CLCNKB | 1.492 | DISEASES 1201 | CLN3 | 1.611 | DISEASES 7401 | CLRN1 | 2.381 | DISEASES 1285 | COL4A3 | 1.078 | DISEASES 1297 | COL9A1 | 2.077 | DISEASES 79174 | CRELD2 | 3.473 | DISEASES 1400 | CRMP1 | 2.108 | DISEASES 55157 | DARS2 | 2.457 | DISEASES 91319 | DERL3 | 2.793 | DISEASES 27185 | DISC1 | 1.257 | DISEASES 2202 | EFEMP1 | 1.385 | DISEASES 2081 | ERN1 | 1.182 | DISEASES 80712 | ESX1 | 1.463 | DISEASES 2159 | F10 | 1.754 | DISEASES 2242 | FES | 1.488 | DISEASES 22862 | FNDC3A | 2.932 | DISEASES 22862 | FNDC3A | 1.884 | DISEASES 79068 | FTO | 1.429 | DISEASES 2555 | GABRA2 | 3.572 | DISEASES 2556 | GABRA3 | 2.365 | DISEASES 55340 | GIMAP5 | 2.061 | DISEASES 2706 | GJB2 | 1.803 | DISEASES 11245 | GPR176 | 1.965 | DISEASES 9709 | HERPUD1 | 2.327 | DISEASES 100124700 | HOTAIR | 1.146 | DISEASES 3295 | HSD17B4 | 1.709 | DISEASES 3309 | HSPA5 | 2.465 | DISEASES 3309 | HSPA5 | 1.995 | DISEASES 3476 | IGBP1 | 1.669 | DISEASES 10644 | IGF2BP2 | 2.404 | DISEASES 10644 | IGF2BP2 | 1.356 | DISEASES 3710 | ITPR3 | 2.493 | DISEASES 3710 | ITPR3 | 1.445 | DISEASES 3767 | KCNJ11 | 1.526 | DISEASES 3767 | KCNJ11 | 1.115 | DISEASES 81562 | LMAN2L | 2.399 | DISEASES 131578 | LRRC15 | 2.372 | DISEASES 4094 | MAF | 1.72 | DISEASES 10746 | MAP3K2 | 2.315 | DISEASES 79104 | MEG8 | 1.149 | DISEASES 4514 | MT-CO3 | 1.109 | DISEASES 4519 | MT-CYB | 1.789 | DISEASES 4538 | MT-ND4 | 2.987 | DISEASES 4566 | MT-TK | 2.185 | DISEASES 4647 | MYO7A | 2.251 | DISEASES 4647 | MYO7A | 1.203 | DISEASES 4693 | NDP | 1.817 | DISEASES 65217 | PCDH15 | 1.697 | DISEASES 5457 | POU4F1 | 1.604 | DISEASES 5478 | PPIA | 1.897 | DISEASES 5538 | PPT1 | 2.222 | DISEASES 5538 | PPT1 | 1.174 | DISEASES 23532 | PRAME | 1.269 | DISEASES 144165 | PRICKLE1 | 2.292 | DISEASES 51334 | PRR16 | 1.956 | DISEASES 5698 | PSMB9 | 2.584 | DISEASES 222546 | RFX6 | 1.8 | DISEASES 5999 | RGS4 | 1.528 | DISEASES 26168 | SENP3 | 2.618 | DISEASES 26054 | SENP6 | 2.55 | DISEASES 169026 | SLC30A8 | 1.842 | DISEASES 57154 | SMURF1 | 1.947 | DISEASES 6658 | SOX3 | 1.665 | DISEASES 246744 | STH | 1.118 | DISEASES 6925 | TCF4 | 1.002 | DISEASES 6934 | TCF7L2 | 1.539 | DISEASES 89910 | UBE3B | 1.659 | DISEASES 7398 | USP1 | 2.071 | DISEASES 7436 | VLDLR | 1.18 | DISEASES 55432 | YOD1 | 2.633 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 230 |
|---|---|
| Disease | wolfram syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:39) HP:0000639 | Nystagmus HP:0002239 | Gastrointestinal hemorrhage HP:0000873 | Diabetes insipidus HP:0002019 | Constipation HP:0003198 | Myopathy HP:0002376 | Developmental regression HP:0002871 | Central apnea HP:0000010 | Recurrent urinary tract infections HP:0000602 | Ophthalmoplegia HP:0001260 | Dysarthria HP:0000135 | Hypogonadism HP:0000079 | Abnormality of the urinary system HP:0001251 | Ataxia HP:0009830 | Peripheral neuropathy HP:0000112 | Nephropathy HP:0002120 | Cerebral cortical atrophy HP:0000407 | Sensorineural hearing impairment HP:0001903 | Anemia HP:0002024 | Malabsorption HP:0008872 | Feeding difficulties in infancy HP:0100518 | Dysuria HP:0000708 | Behavioral abnormality HP:0001250 | Seizures HP:0000026 | Male hypogonadism HP:0002093 | Respiratory insufficiency HP:0000726 | Dementia HP:0000648 | Optic atrophy HP:0000823 | Delayed puberty HP:0002360 | Sleep disturbance HP:0001638 | Cardiomyopathy HP:0001249 | Intellectual disability HP:0001959 | Polydipsia HP:0002459 | Dysautonomia HP:0002592 | Gastric ulcer HP:0001387 | Joint stiffness HP:0000819 | Diabetes mellitus HP:0000738 | Hallucinations HP:0100016 | Abnormality of the mesentery HP:0000501 | Glaucoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0000819 | Diabetes mellitus | 3 HP:0006279 | Beta-cell dysfunction | 1 HP:0012592 | Albuminuria | 1 HP:0003689 | Multiple mtDNA deletions | 1 HP:0001730 | Progressive hearing impairment | 1 HP:0003287 | Abnormality of mitochondrial metabolism | 1 HP:0005181 | Premature coronary artery disease | 1 HP:0001677 | Coronary artery disease | 1 HP:0000518 | Cataract | 1 HP:0000969 | Dropsy | 1 HP:0002521 | Hypsarrhythmia by EEG | 1 HP:0000648 | Optic-nerve degeneration | 1 HP:0002180 | Neurodegeneration | 1 HP:0001138 | Damaged optic nerve | 1 HP:0000708 | Behavioral problems | 1 HP:0001638 | Cardiomyopathy | 1 |
| Disease ID | 230 |
|---|---|
| Disease | wolfram syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:177) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| - | c.2020G→A (p.Gly674Arg) | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1367G→A (p.Arg456His) | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2649delC, p.Phe884Serfs*68 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1230_1233del, p.Val412Serfs*29 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.409_424dup, p.Val142Glyfs*110 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2119G>A, p.Val707Ile | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1362_1377del, p.Tyr454* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1243_1245del, p.Val415del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2648_2651del, p.Phe883Serfs*68 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1511C>T, p.Pro504Leu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2206G>A, p.Gly736Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2452C>T, p.Arg818Cys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1096C>T, p.Gln366* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1456C>T, p.Gln486* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1532T>C, p.Leu511Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1558C>T, p.Gln520* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1949_1950del, p.Tyr650Cysfs*61 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2149G>A, p.Glu717Lys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1060_1062del, p.Phe354del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1382C>G, p.Thr461Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1433G>A, p.Trp478* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1673G>A, p.Arg558His | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1936_1943del8, p.Phe646Valfs*63 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1999C>T, p.Gln667* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2051C>T, p.Ala684Val | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2524C>T, p.Leu842Phe | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.460+1G>A, p.Gly154fs*3? | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.530G>C, p.Arg177Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.599del, p.Leu200Argfs*87 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1354_1369del, p.Glu452Glyfs*20 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1380_1388del, p.Glu462_Thr464del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1549del, p.Arg517Alafs*5 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1620_1622del, p.Trp540del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1698_1703del, p.Leu567_Phe568del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1885C>T, p.Arg629Trp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1943G>A, p.Trp648* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2643_2646del, p.Phe882Serfs*69 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.406C>T, p.Gln136* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.505G>A, p.Glu169Lys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.740_741del, p.Phe247Cysfs*3 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.862_1357del, p.Lys287Asnfs*88 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.937C>T, p.His313Tyr | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1032_1033insGCCTTCTTC, p.Phe344_Ile345insAlaPhePhe | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1346C>T, p.Thr449Ile | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1367G>A, p.Arg456His | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1522_1536del, p.Val509_Tyr513del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1525_1537del, p.Val509Ilefs*8 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1619G>A, p.Trp540* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1628T>G, p.Leu543Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2104G>A, p.Gly702Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2164_2165dup, p.Met722_Asp729dup | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2467_2469delATC, p.Ile823del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.320G>A, p.Gly107Glu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.397G>A, p.Ala133Thr | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.467C>T, p.Thr156Met | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.580C>T, p.Gln194* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.631G>A, p.Asp211Asn | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.712+16G>A, p.? | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.817G>T, p.Glu273* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.873C>A, p.Tyr291* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.876dup, p.Leu293Profs*13 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.906C>A, p.Tyr302* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1037C>T, p.Pro346Leu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1038dup, p.Leu347Alafs*196 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1113G>A, p.Trp371* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1232_1233del, p.Ser411Cysfs*131 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1234_1237del, p.Val412Serfs*29 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1260_1261insC, p.Ile142fs*400 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1280T>G, p.Ile427Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1309G>C, p.Gly437Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1328G>T, p.Ser443Ile | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1329C>G, p.Ser443Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1523_1524del, p.Tyr508fs*34 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1582T>G, p.Tyr528Asp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1602C>G, p.Tyr534* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1611_1624del, p.Cys537* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1637T>A, p.Val546Asp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1672C>T, p.Arg558Cys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1675G>A, p.Ala559Thr | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1775_1776del, p.Leu592Tyrfs*13 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1813_1814dupA, p.Ser605Lysfs*107 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1820C>G, p.Pro607Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1838G>A, p.Trp613* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1919_1929del, p.Leu640Argfs*66 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1941C>A, p.Cys647* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1944G>A, p.Trp648* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1973delA, p.Lys658Argfs*49 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1991T>C, p.Leu664Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2002C>T, p.Gln668* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2006A>G, p.Tyr669Cys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2007T>G, p.Tyr669* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2012C>T, p.Ala671Val | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2068T>C, p.Cys690Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2099G>A, p.Trp700* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2100G>T, p.Trp700Cys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2254G>T, p.Glu752* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2254G>A, p.Glu752Lys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2327A>T, p.Glu776Val | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2336T>G, p.Val779Gly | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2513C>T, p.Pro838Leu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2590G>T, p.Glu864* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2654C>T, p.Pro885Leu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.307C>T, p.Gln103* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.328T>A, p.Tyr110Asn | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.387G>A, p.Trp129* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.461-8T>C, p.? | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.472G>A, p.Glu158Lys | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.501delC, p.Ser168Profs*119 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.532_537del, p.Lys178_Ala179del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.639_642del, p.Ala214Serfs*72 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.676C>T, p.Gln226* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.861+1G>A, p.Val288Lysfs*3 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.874C>T, p.Pro292Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.877del, p.Leu293Cysfs*10 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.887T>G, p.Ile296Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.937_941dup, p.Trp314Cysfs*47 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1048T>G, p.Phe350Val | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1049_1051del, p.Phe350del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1067C>T, p.Ser356Phe | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1082C>T, p.Thr361Ile | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1112G>A, p.Trp371* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1115_1116insAAGGC, p.Trp371Glufs*72 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1140_1163dup, p.Leu374_Leu381dup | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1145T>C, p.Leu382Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1174C>T, p.Gln392* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1193_1243dup, p.Gly398_Phe415dup | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1205T>C, p.Leu402Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1233_1237del, p.Val412Serfs*126 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1240_1242del, p.Phe414del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1251_1252delinsG, p.Phe417Leufs*23 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1289C>T, p.Ser430Leu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1289C>G, p.Ser430Trp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1355_1370dup, p.Ala460Hisfs*88 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1371G>T, p.Arg457Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1381A>C, p.Thr461Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1401_1403del, p.Leu468del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1504_1505ins?, p.Ser502ins8 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1507_1519del, p.Val503Serfs*15 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1514G>A, p.Cys505Tyr | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1517T>G, p.Leu506Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1538_1539del, p.Tyr513Serfs*29 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1546_1548del, p.Phe516del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1581_1582dupC, p.Tyr528Leufs*15 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1584C>G, p.Tyr528* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1589_1592dup, p.Val532fs*10 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1661_1687del, p.Leu554_Gly562del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1763G>A, p.Trp588* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1775_1776insGGAT, p.Glu593Aspfs*12 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1816G>C, p.Val606Leu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1977_1978delCTinsG, p.Tyr660Thrfs*5 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1980C>G, p.Tyr660* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.1997G>A, p.Trp666* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2010dupT, p.Ala671Cysfs*41 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2015T>C, p.Leu672Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2020G>A, p.Gly674Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2048T>G, p.Met683Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2050G>A, p.Ala684Thr | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2105G>A, p.Gly702Asp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2106_2113del, p.Phe646fs*62 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2168T>C, p.Leu723Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2170C>T, p.Pro724Ser | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2224_2225insT, p.Cys742Leufs*17 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2315_2316insT, p.Tyr773Leufs*4 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2338G>C, p.Gly780Arg | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2378G>C, p.Arg793Pro | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2385G>C, p.Glu795Asp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2390A>T, p.Asp797Val | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2392_2393insGAC, p.Val798delinsGlyLeu | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2431_2465dup, p.Ile823Argfs*51 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2433del, p.Ser812Alafs*50 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2455C>T, p.Gln819* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2485_2499del, p.Leu829_Leu833del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2504_2505insC, p.Lys836Glnfs*104 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2546_2547ins22, p.Thr857Leufs*90 | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2578C>G, p.His860Asp | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2601G>A, p.Trp867* | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
| - | c.2638_2643del, p.Asp880_Phe881del | doi:10.1038/gim.2012.180 | Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:21) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893879 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301739 | G | A,C |
| rs104893880 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6291961 | C | T |
| rs104893881 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6302250 | C | T |
| rs1801208 | 10679252 | 7466 | WFS1 | umls:C0043207 | BeFree | Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. | 0.626119279 | 2000 | WFS1 | 4 | 6301162 | G | A,C,T |
| rs199946797 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301467 | C | A,T |
| rs28937890 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301966 | C | T |
| rs28937890 | 9771706 | 7466 | WFS1 | umls:C0043207 | UNIPROT | Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. | 0.626119279 | 1998 | WFS1 | 4 | 6301966 | C | T |
| rs28937891 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301879 | G | A,T |
| rs28937891 | 9771706 | 7466 | WFS1 | umls:C0043207 | UNIPROT | Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affected individuals in six WFS families, and these mutations were associated with the disease phenotype. | 0.626119279 | 1998 | WFS1 | 4 | 6301879 | G | A,T |
| rs28937892 | 11161832 | 7466 | WFS1 | umls:C0043207 | UNIPROT | Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. | 0.626119279 | 2001 | WFS1 | 4 | 6301306 | C | T |
| rs28937892 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301306 | C | T |
| rs28937893 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301941 | G | A |
| rs35932623 | 11161832 | 7466 | WFS1 | umls:C0043207 | UNIPROT | Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. | 0.626119279 | 2001 | WFS1 | 4 | 6302247 | C | T |
| rs372249044 | 16151413 | 7466 | WFS1 | umls:C0043207 | BeFree | WFS1 variants were identified in eight subjects from seven families with WS, leading to the identification of four novel mutations, Q194X (nonsense), H313Y (missense), L313fsX360 (duplication frame shift) and F883fsX951 (deletion frame shift), and four previously reported mutations, A133T and L543R (missense), V415del (in frame triple deletion) and F883fsX950 (deletion frame shift). | 0.626119279 | 2005 | WFS1 | 4 | 6289068 | G | A |
| rs387906930 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301846 | C | T |
| rs587776598 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6289095 | - | GGCCGTCGCGAGGCTG |
| rs71524377 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6301914 | G | A,T |
| rs71530910 | 15605410 | 7466 | WFS1 | umls:C0043207 | UNIPROT | Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. | 0.626119279 | 2005 | WFS1 | 4 | 6301680 | C | T |
| rs71530923 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6277579 | C | T |
| rs797045075 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6302058 | T | C |
| rs797045076 | NA | 7466 | WFS1 | umls:C0043207 | CLINVAR | NA | 0.626119279 | NA | WFS1 | 4 | 6302443 | TCTT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000079 | Abnormality of the urinary system | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
Mapped by homologous gene(Total Items:38) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100518 | Dysuria | MP:0011414 | erythruria | passage of red colored urine |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000112 | Nephropathy | 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: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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002592 | Gastric ulcer | MP:0012119 | increased trophectoderm apoptosis | increase in the number of trophectoderm cells undergoing programmed cell death |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000501 | Glaucoma | 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000135 | Hypogonadism | 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:0000873 | Diabetes insipidus | 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:0000407 | Sensorineural hearing impairment | 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002459 | Dysautonomia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002376 | Developmental regression | 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:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| 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:0008872 | Feeding difficulties in infancy | 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: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:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000738 | Hallucinations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000079 | Abnormality of the urinary system | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002019 | Constipation | 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:0002871 | Central apnea | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000026 | Male hypogonadism | MP:0013737 | small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia o |
| HP:0000648 | Optic atrophy | 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 |
| Disease ID | 230 |
|---|---|
| Disease | wolfram syndrome |
| Case | (Waiting for update.) |