PedAM
Pediatric Disease Annotations & Medicines
| hypogonadism | ||||
| Disease ID | 843 |
|---|---|
| Disease | hypogonadism |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0011847 | diabetes | 16 C0242350 | erectile dysfunction | 8 C0029456 | osteoporosis | 7 C0021359 | infertility | 4 C0007758 | cerebellar ataxia | 2 C0009450 | infection | 2 C1963961 | testosterone deficiency | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs144994507 | 22466334 | 128674 | PROKR2 | umls:C0020619 | BeFree | We identified two heterozygous PROKR2 mutations (p.Leu173Arg and p.Arg85His) previously reported in isolated hypogonadotroph hypogonadism and a novel PROKR2 variant (p.Ala51Thr) that, in contrast with both other mutations, did not impair receptor signaling activity. | 0.008001298 | 2012 | PROKR2;FLJ33544 | 20 | 5314219 | C | T |
| rs1799945 | 20160468 | 3077 | HFE | umls:C0020619 | BeFree | Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE gene, or compound heterozygosity for C282Y and H63D, manifests with liver disease and hypogonadism. | 0.000542884 | 2010 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 20160468 | 3077 | HFE | umls:C0020619 | BeFree | Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE gene, or compound heterozygosity for C282Y and H63D, manifests with liver disease and hypogonadism. | 0.000542884 | 2010 | HFE | 6 | 26092913 | G | A |
| rs74315416 | 22466334 | 128674 | PROKR2 | umls:C0020619 | BeFree | We identified two heterozygous PROKR2 mutations (p.Leu173Arg and p.Arg85His) previously reported in isolated hypogonadotroph hypogonadism and a novel PROKR2 variant (p.Ala51Thr) that, in contrast with both other mutations, did not impair receptor signaling activity. | 0.008001298 | 2012 | PROKR2 | 20 | 5302677 | A | C |
| rs74315418 | 22466334 | 128674 | PROKR2 | umls:C0020619 | BeFree | We identified two heterozygous PROKR2 mutations (p.Leu173Arg and p.Arg85His) previously reported in isolated hypogonadotroph hypogonadism and a novel PROKR2 variant (p.Ala51Thr) that, in contrast with both other mutations, did not impair receptor signaling activity. | 0.008001298 | 2012 | PROKR2;FLJ33544 | 20 | 5314116 | C | T,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:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0020619 | cabergoline | C047047 | 81409-90-7 | hypogonadism | MESH:D007006 | therapeutic | 11194712 | ||
| C0020619 | crizotinib | C551994 | - | hypogonadism | MESH:D007006 | marker/mechanism | 22488744 | ||
| C0020619 | morphine | D009020 | 57-27-2 | hypogonadism | MESH:D007006 | marker/mechanism | 21332999 | ||
| C0020619 | octreotide | D015282 | 83150-76-9 | hypogonadism | MESH:D007006 | therapeutic | 16449332 | ||
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.) | |