PedAM
Pediatric Disease Annotations & Medicines
| digeorge syndrome | ||||
| Disease ID | 478 |
|---|---|
| Disease | digeorge syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0002721 | Immunodeficiency | 3 HP:0001636 | Tetrology of fallot | 1 HP:0004948 | Twisted blood vessels | 1 HP:0001281 | Tetany | 1 HP:0002960 | Autoimmune condition | 1 HP:0005359 | Absent thymus | 1 HP:0001878 | Haemolytic anaemia | 1 HP:0001762 | Talipes equinovarus | 1 HP:0001999 | Facial dysmorphism | 1 HP:0011590 | Double aortic arch | 1 HP:0000347 | Hypoplasia of mandible | 1 HP:0001890 | Autoimmune hemolytic anemia | 1 HP:0012841 | Retinal vascular tortuosity | 1 HP:0000554 | Uveitis | 1 HP:0002527 | Falls | 1 HP:0001607 | Subglottic stenosis | 1 HP:0001903 | Anemia | 1 HP:0002835 | Aspiration | 1 HP:0000078 | Genital abnormalities | 1 HP:0012735 | Coughing | 1 HP:0001888 | Lymphocytopenia | 1 |
| Disease ID | 478 |
|---|---|
| Disease | digeorge syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:12) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs175174 | 22763378 | 7353 | UFD1L | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.121628651 | 2012 | ZDHHC8 | 22 | 20140031 | A | G |
| rs175174 | 22763378 | 1312 | COMT | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.279553364 | 2012 | ZDHHC8 | 22 | 20140031 | A | G |
| rs175174 | 22763378 | 29801 | ZDHHC8 | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.000271442 | 2012 | ZDHHC8 | 22 | 20140031 | A | G |
| rs41298838 | NA | 6899 | TBX1 | umls:C0012236 | CLINVAR | NA | 0.579292236 | NA | TBX1 | 22 | 19765921 | G | A |
| rs41298838 | 14585638 | 6899 | TBX1 | umls:C0012236 | UNIPROT | We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. | 0.579292236 | 2003 | TBX1 | 22 | 19765921 | G | A |
| rs4680 | 20123031 | 1312 | COMT | umls:C0012236 | GAD | [The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study.] | 0.279553364 | 2010 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22763378 | 7353 | UFD1L | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.121628651 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22763378 | 1312 | COMT | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.279553364 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22763378 | 29801 | ZDHHC8 | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.000271442 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs5992403 | 22763378 | 29801 | ZDHHC8 | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.000271442 | 2012 | UFD1L;CDC45 | 22 | 19479363 | T | C |
| rs5992403 | 22763378 | 7353 | UFD1L | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.121628651 | 2012 | UFD1L;CDC45 | 22 | 19479363 | T | C |
| rs5992403 | 22763378 | 1312 | COMT | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.279553364 | 2012 | UFD1L;CDC45 | 22 | 19479363 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |