PedAM
Pediatric Disease Annotations & Medicines
| encephalopathy | ||||
| Disease ID | 956 |
|---|---|
| Disease | encephalopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:19) C2364133 | infection C0796110 | w syndrome C0796095 | c syndrome C0700208 | scoliosis C0426768 | o sign C0342776 | complex i deficiency C0270921 | axonal neuropathy C0263390 | scleromyxedema C0260662 | hearing disorders C0235031 | neurological symptoms C0162700 | tick-borne diseases C0085273 | parvovirus b19 infection C0040188 | tic disorder C0036572 | seizures C0035400 | reye's syndrome C0025362 | mental retardation C0024588 | malignant hypertension C0019158 | hepatitis C0001125 | lactic acidosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0036572 | seizures | 84 C0009450 | infection | 30 C0001125 | lactic acidosis | 24 C0796095 | c syndrome | 10 C0019158 | hepatitis | 8 C0426768 | o sign | 5 C0025362 | mental retardation | 4 C0085273 | parvovirus b19 infection | 2 C0235031 | neurological symptoms | 2 C0040188 | tic disorder | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118203933 | 15327960 | 760 | CA2 | umls:C0085584 | BeFree | Unfolding a folding disease: folding, misfolding and aggregation of the marble brain syndrome-associated mutant H107Y of human carbonic anhydrase II. | 0.000271442 | 2004 | CA2 | 8 | 85473779 | C | T |
| rs28934906 | 12719401 | 4204 | MECP2 | umls:C0085584 | BeFree | Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. | 0.005157396 | 2003 | MECP2 | X | 154031355 | G | A |
| rs28934906 | 17236109 | 4204 | MECP2 | umls:C0085584 | BeFree | The phenotypes show a strong resemblance, and might in fact represent a clinical-genetic entity of the T158M mutation within the complex of congenital encephalopathies in males with MeCP2 mutations. | 0.005157396 | 2006 | MECP2 | X | 154031355 | G | A |
| rs74315413 | 10953183 | 5621 | PRNP | umls:C0085584 | BeFree | Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. | 0.005157396 | 2000 | PRNP | 20 | 4699780 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:20) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 3 | 53630679 | rs6445588 | C | T | rs6445588 | 24265751 | 1.97E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | CACNA1D |
| 3 | 53630679 | rs6445588 | C | T | rs6445588 | 24265751 | 6.29E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | CACNA1D |
| 5 | 147896308 | rs1368387 | G | A | rs1368387 | 24265751 | 1.84E-08 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | HTR4 |
| 5 | 147896308 | rs1368387 | G | A | rs1368387 | 24265751 | 5.33E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | HTR4 |
| 5 | 147966246 | rs867522 | C | T | rs867522 | 24265751 | 5.57E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | HTR4 |
| 5 | 147966246 | rs867522 | C | T | rs867522 | 24265751 | 9.01E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | HTR4 |
| 7 | 9108917 | rs10247883 | A | G | rs10247883 | 24265751 | 5.66E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NA |
| 7 | 9108917 | rs10247883 | A | G | rs10247883 | 24265751 | 7.16E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NA |
| 9 | 140978576 | rs4066674 | T | A,C,G | rs4295733 | 24265751 | 5.38E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | CACNA1B |
| 9 | 140978576 | rs4066674 | T | A,C,G | rs4295733 | 24265751 | 6.84E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | CACNA1B |
| 10 | 73520632 | rs3747869 | A | C | rs3747869 | 24265751 | 1.22E-08 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | C10orf54 |
| 10 | 73520632 | rs3747869 | A | C | rs3747869 | 24265751 | 1.34E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | C10orf54 |
| 11 | 66254085 | rs11550299 | G | T | rs11550299 | 24265751 | 1.53E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | DPP3 |
| 11 | 66254085 | rs11550299 | G | T | rs11550299 | 24265751 | 4.04E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | G | DPP3 |
| 14 | 79950488 | rs2196447 | A | G | rs2196447 | 24265751 | 2.83E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NRXN3 |
| 14 | 79950488 | rs2196447 | A | G | rs2196447 | 24265751 | 5.30E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NRXN3 |
| 14 | 79953814 | rs11845632 | G | A | rs11845632 | 24265751 | 1.27E-08 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NRXN3 |
| 14 | 79953814 | rs11845632 | G | A | rs11845632 | 24265751 | 1.49E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | A | NRXN3 |
| 20 | 59886152 | rs6028103 | C | T | rs6028103 | 24265751 | 4.27E-07 | (Female) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | CDH4 |
| 20 | 59886152 | rs6028103 | C | T | rs6028103 | 24265751 | 5.09E-07 | (Male) | NA | NA | 175 Han Chinese ancestry cases; 244 Han Chinese ancestry controls | Han Chinese(419) | ALL(419) | ASN(419) | ALL(419) | Delayed encephalopathy in acute carbon monoxide poisoning | HPOID:0001298 | Encephalopathy | DOID:3602 | toxic encephalopathy | NA | NA | NA | NA | NA | NA | Research Support, Non-U.S. Gov't | C | CDH4 |
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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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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