PedAM
Pediatric Disease Annotations & Medicines
| anhidrosis | ||||
| Disease ID | 1814 |
|---|---|
| Disease | anhidrosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0012531 | Pain | 41 HP:0002960 | Autoimmune condition | 2 HP:0002277 | Horner's syndrome | 2 HP:0000508 | Drooping upper eyelid | 2 HP:0000975 | Increased sweating | 2 HP:0002459 | Dysautonomia | 1 HP:0000763 | Sensory neuropathy | 1 HP:0000616 | Constricted pupils | 1 HP:0001945 | Fever | 1 HP:0001025 | Hives | 1 HP:0007021 | Absence of pain sensation | 1 HP:0008256 | Adrenocortical adenomas | 1 |
| Disease ID | 1814 |
|---|---|
| Disease | anhidrosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853325 | 24682681 | 3553 | IL1B | umls:C0003028 | BeFree | PBMCs of NEMO-ID patients, four with EDA carrying E315A, C417R, D311N and Q403X, and three without EDA carrying E315A, E311_L333del and R254G, were cultured with PHA, PHA plus IL-12p70, LPS, LPS plus IFN-γ, TNF and IL-1β. | 0.000271442 | 2014 | IKBKG | X | 154564450 | T | C |
| rs137853329 | 24682681 | 3553 | IL1B | umls:C0003028 | BeFree | PBMCs of NEMO-ID patients, four with EDA carrying E315A, C417R, D311N and Q403X, and three without EDA carrying E315A, E311_L333del and R254G, were cultured with PHA, PHA plus IL-12p70, LPS, LPS plus IFN-γ, TNF and IL-1β. | 0.000271442 | 2014 | IKBKG | X | 154564408 | C | T |
| rs137853331 | 24682681 | 3553 | IL1B | umls:C0003028 | BeFree | PBMCs of NEMO-ID patients, four with EDA carrying E315A, C417R, D311N and Q403X, and three without EDA carrying E315A, E311_L333del and R254G, were cultured with PHA, PHA plus IL-12p70, LPS, LPS plus IFN-γ, TNF and IL-1β. | 0.000271442 | 2014 | IKBKG | X | 154563590 | A | C |
| rs179363867 | 24682681 | 3553 | IL1B | umls:C0003028 | BeFree | PBMCs of NEMO-ID patients, four with EDA carrying E315A, C417R, D311N and Q403X, and three without EDA carrying E315A, E311_L333del and R254G, were cultured with PHA, PHA plus IL-12p70, LPS, LPS plus IFN-γ, TNF and IL-1β. | 0.000271442 | 2014 | IKBKG | X | 154563577 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |