PedAM
Pediatric Disease Annotations & Medicines
| acanthosis nigricans | ||||
| Disease ID | 287 |
|---|---|
| Disease | acanthosis nigricans |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:20) C2700520 | crouzon syndrome C2697424 | gastric cancer C1153706 | endometrial adenocarcinoma C0870082 | hyperkeratosis C0854110 | insulin resistant diabetes C0743125 | insulin resistant diabetes mellitus C0684249 | lung carcinoma C0476089 | endometrial carcinoma C0279651 | adenocarcinoma of the gallbladder C0263313 | pemphigus foliaceus C0221032 | seip-lawrence syndrome C0149782 | squamous cell carcinoma of the lung C0037285 | skin manifestations C0037284 | skin lesions C0026948 | mycosis fungoides C0020459 | hyperinsulinemia C0019202 | hepatolenticular degeneration C0014130 | endocrine diseases C0011860 | type 2 diabetes C0010273 | crouzon's syndrome |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0010273 | crouzon syndrome | 11 C0011860 | type 2 diabetes | 2 C1153706 | endometrial adenocarcinoma | 1 C0476089 | endometrial carcinoma | 1 C0026948 | mycosis fungoides | 1 C0020459 | hyperinsulinemia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913105 | 10053006 | 2261 | FGFR3 | umls:C0000889 | BeFree | A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. | 0.014426145 | 1999 | FGFR3 | 4 | 1806163 | A | C,T |
| rs28931615 | 11039354 | 2261 | FGFR3 | umls:C0000889 | BeFree | Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations. | 0.014426145 | 2000 | FGFR3 | 4 | 1804426 | C | A |
| rs28931615 | 8880573 | 2261 | FGFR3 | umls:C0000889 | BeFree | A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. | 0.014426145 | 1996 | FGFR3 | 4 | 1804426 | C | A |
| rs28931615 | 10541159 | 2261 | FGFR3 | umls:C0000889 | BeFree | All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu). | 0.014426145 | 1999 | FGFR3 | 4 | 1804426 | C | A |
| rs78311289 | 18000903 | 2261 | FGFR3 | umls:C0000889 | BeFree | Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. | 0.014426145 | 2007 | FGFR3 | 4 | 1806162 | A | C,G |
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.) | |