PedAM
Pediatric Disease Annotations & Medicines
| pituitary adenoma | ||||
| Disease ID | 1494 |
|---|---|
| Disease | pituitary adenoma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:19) C0019080 | hemorrhage | 13 C0038454 | apoplexy | 12 C0221406 | cushing's disease | 9 C0032001 | pituitary apoplexy | 6 C0007766 | intracranial aneurysm | 6 C0021308 | infarction | 5 C0020514 | hyperprolactinemia | 4 C0018681 | headache | 3 C0006118 | brain tumors | 2 C0010276 | craniopharyngioma | 2 C0036454 | visual field defect | 2 C0004114 | astrocytoma | 1 C0020625 | hyponatremia | 1 C0338437 | neurocysticercosis | 1 C0917996 | cerebral aneurysm | 1 C0547030 | visual disturbances | 1 C0041295 | tuberculoma | 1 C0020255 | hydrocephalus | 1 C1527390 | intracranial tumour | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894195 | 20354355 | 9049 | AIP | umls:C0032000 | BeFree | The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect? | 0.013300652 | 2010 | AIP | 11 | 67490910 | C | G,T |
| rs121913495 | 11836449 | 2778 | GNAS | umls:C0032000 | BeFree | An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma. | 0.001628651 | 2002 | GNAS | 20 | 58909366 | G | A,T |
| rs267606579 | 19684062 | 9049 | AIP | umls:C0032000 | BeFree | This kindred exemplifies the aggressive features of pituitary adenomas associated with AIP mutations, while genetic analyses among three R271W FIPA families indicate that R271W represents a mutational hotspot that should be studied further in functional studies. | 0.013300652 | 2009 | AIP;MIR6752 | 11 | 67490811 | C | T |
| rs281864783 | 17396442 | 5573 | PRKAR1A | umls:C0032000 | BeFree | Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X). | 0.001357209 | 2007 | PRKAR1A | 17 | 68522864 | C | T |
| rs78669402 | 22291433 | 10671 | DCTN6 | umls:C0032000 | BeFree | In vitro, the K96Q change decreased p27 affinity for Grb2 but did not segregate with pituitary adenoma in the FIPA kindred. | 0.001357209 | 2012 | DCTN6 | 8 | 30179413 | C | A |
| rs78669402 | 22291433 | 2885 | GRB2 | umls:C0032000 | BeFree | In vitro, the K96Q change decreased p27 affinity for Grb2 but did not segregate with pituitary adenoma in the FIPA kindred. | 0.000271442 | 2012 | DCTN6 | 8 | 30179413 | C | A |
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.) | |