eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| moyamoya disease | ||||
| Disease ID | 36 |
|---|---|
| Disease | moyamoya disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:62) C2713497 | saccular aneurysms C2713497 | saccular aneurysm C2062660 | basilar tip aneurysm C1963101 | encephalopathy C1962958 | hematoma C1265769 | multiple aneurysms C1112413 | peripheral artery aneurysm C0948229 | cortical laminar necrosis C0917996 | cerebral aneurysms C0917996 | cerebral aneurysm C0917798 | cerebrovascular ischemia C0917798 | cerebral ischemia C0751711 | anterior ischemic optic neuropathy C0751001 | basilar artery aneurysms C0745413 | ischemic attack C0740392 | middle cerebral artery infarction C0547030 | visual disturbances C0542007 | cerebral hematoma C0521683 | chorioretinal atrophy C0392464 | ventricular aneurysm C0334533 | arteriovenous malformation C0271561 | growth hormone deficiency C0265103 | vertebral artery stenosis C0264746 | chorea gravidarum C0242084 | ruptured cerebral aneurysm C0240059 | intraventricular hemorrhage C0234428 | disturbance of consciousness C0206660 | germinoma C0162869 | ruptured aneurysm C0149678 | epstein-barr virus infection C0041408 | turner's syndrome C0040822 | shaking C0038525 | subarachnoid hemorrhage C0038454 | stroke C0038454 | cerebrovascular accidents C0038454 | cerebrovascular accident C0038454 | cerebral infarction C0035302 | retinal artery occlusion C0035067 | renal artery stenosis C0032046 | placenta previa C0028326 | noonan syndrome C0027708 | wilms' tumor C0024141 | le syndrome C0022116 | ischemia C0021308 | infarction C0020545 | renovascular hypertension C0020440 | hypercapnia C0019080 | hemorrhage C0018681 | headaches C0014553 | absence epilepsy C0010276 | craniopharyngioma C0008489 | chorea C0007787 | transient ischemic attacks C0007787 | transient ischemic attack (tia) C0007787 | transient ischemic attack C0007786 | brain ischemia C0007766 | intracranial aneurysms C0007766 | intracranial aneurysm C0002963 | variant angina pectoris C0002949 | dissecting aneurysms C0002940 | aneurysms C0002940 | aneurysm |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:33) C0038454 | stroke | 19 C0002940 | aneurysm | 17 C0019080 | hemorrhage | 16 C0002940 | aneurysms | 9 C0085113 | neurofibromatosis | 7 C0007785 | cerebral infarction | 5 C0021308 | infarction | 5 C0240059 | intraventricular hemorrhage | 4 C0038525 | subarachnoid hemorrhage | 4 C0022116 | ischemia | 3 C2062660 | basilar tip aneurysm | 3 C0027831 | neurofibromatosis type 1 | 3 C0007785 | cerebral ischemia | 3 C0024141 | systemic lupus erythematosus | 2 C0018944 | hematoma | 2 C0003857 | arteriovenous malformation | 2 C0008489 | chorea | 2 C0162869 | ruptured aneurysm | 2 C0007766 | intracranial aneurysm | 2 C0018681 | headaches | 1 C0010276 | craniopharyngioma | 1 C0740392 | middle cerebral artery infarction | 1 C0206660 | germinoma | 1 C0007786 | brain ischemia | 1 C0020545 | renovascular hypertension | 1 C0038454 | cerebrovascular accident | 1 C0547030 | visual disturbances | 1 C0745413 | ischemic attack | 1 C0740385 | middle cerebral artery aneurysm | 1 C1112413 | peripheral artery aneurysm | 1 C1839611 | n syndrome | 1 C0007766 | intracranial aneurysms | 1 C0007787 | transient ischemic attack | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs112735431 | 23769926 | 4314 | MMP3 | umls:C0026654 | BeFree | MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10). | 0.002909916 | 2013 | RNF213;LOC100294362 | 17 | 80385145 | G | A,C |
| rs112735431 | 23850618 | 57674 | RNF213 | umls:C0026654 | BeFree | RNF213 R4810K reduced angiogenic activities of iPSECs from patients with MMD, suggesting that it is a promising in vitro model for MMD. | 0.247524428 | 2013 | RNF213;LOC100294362 | 17 | 80385145 | G | A,C |
| rs112735431 | 22688066 | 57674 | RNF213 | umls:C0026654 | BeFree | Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations. | 0.247524428 | 2012 | RNF213;LOC100294362 | 17 | 80385145 | G | A,C |
| rs112735431 | 23994138 | 57674 | RNF213 | umls:C0026654 | BeFree | The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality. | 0.247524428 | 2013 | RNF213;LOC100294362 | 17 | 80385145 | G | A,C |
| rs112735431 | 23769926 | 5159 | PDGFRB | umls:C0026654 | BeFree | MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10). | 0.000542884 | 2013 | RNF213;LOC100294362 | 17 | 80385145 | G | A,C |
| rs1800470 | 22659181 | 7040 | TGFB1 | umls:C0026654 | BeFree | As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD patients and because of the negative association of rs1800470 and rs1800471 in Japanese MMD patients, a role of this exon of TGFB1 in the genesis of MMD is unlikely. | 0.001085767 | 2012 | TGFB1 | 19 | 41353016 | G | C,A |
| rs1800471 | 22659181 | 7040 | TGFB1 | umls:C0026654 | BeFree | As no new genetic variants were uncovered in this study of the first exon of TGFB1 in European MMD patients and because of the negative association of rs1800470 and rs1800471 in Japanese MMD patients, a role of this exon of TGFB1 in the genesis of MMD is unlikely. | 0.001085767 | 2012 | TGFB1 | 19 | 41352971 | C | G |
| rs199580307 | 16475235 | 7050 | TGIF1 | umls:C0026654 | BeFree | A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. | 0.000271442 | 2006 | TGIF1 | 18 | 3457498 | T | C |
| rs3025058 | 23769926 | 4314 | MMP3 | umls:C0026654 | BeFree | MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10). | 0.002909916 | 2013 | NA | NA | NA | NA | NA |
| rs3025058 | 23769926 | 5159 | PDGFRB | umls:C0026654 | BeFree | MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10). | 0.000542884 | 2013 | NA | NA | NA | NA | NA |
| rs3828610 | 23769926 | 4314 | MMP3 | umls:C0026654 | BeFree | MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10). | 0.002909916 | 2013 | PDGFRB | 5 | 150156062 | A | C |
| rs3828610 | 23769926 | 5159 | PDGFRB | umls:C0026654 | BeFree | MDR analysis failed to detect any significant interaction among these five loci in the occurrence of MMD (P>0.05), but the combination of three loci (rs112735431 in RNF213, rs3828610 in PDGFRB, rs3025058 in MMP-3) could have the maximum testing accuracy (57.29%) and cross-validation consistency (10/10). | 0.000542884 | 2013 | PDGFRB | 5 | 150156062 | A | C |
| rs6565681 | 21048783 | 57674 | RNF213 | umls:C0026654 | GWASCAT | A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. | 0.247524428 | 2011 | RNF213;LOC100294362 | 17 | 80374694 | A | G |
| rs6565681 | 21048783 | 57674 | RNF213 | umls:C0026654 | GAD | [A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.] | 0.247524428 | 2011 | RNF213;LOC100294362 | 17 | 80374694 | A | G |
| rs6565681 | 21048783 | 100294362 | LOC100294362 | umls:C0026654 | GWASCAT | A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. | 0.12 | 2011 | RNF213;LOC100294362 | 17 | 80374694 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:1) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 17 | 78348494 | rs6565681 | A | G | rs6565681 | 21048783 | 2.00E-08 | NA | 4.82 | [2.73-8.49] | 72 Japanese cases; 45 Japanese controls | Japanese(117) | ALL(117) | ASN(117) | ALL(117) | Moyamoya disease | HPOID:0011834 | Moyamoya phenomenon | DOID:13099 | Moyamoya disease | D009072 | Moyamoya Disease | moyamoya disease | Moyamoya disease | rs6565681-A | Research Support, Non-U.S. Gov't | G | RNF213 | intron |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001009 | Telangiectasia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| 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 |
| Disease ID | 36 |
|---|---|
| Disease | moyamoya disease |
| Case | (Waiting for update.) |