PedAM
Pediatric Disease Annotations & Medicines
| skin atrophy | ||||
| Disease ID | 1743 |
|---|---|
| Disease | skin atrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000324 | Asymmetry of face | 1 HP:0000962 | Hyperkeratosis | 1 HP:0001009 | Telangiectases | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0000822 | Hypertension | 1 HP:0001596 | Hair loss | 1 HP:0002617 | Aneurysmal dilatation | 1 HP:0000448 | Big nose | 1 HP:0100790 | Hernia | 1 |
| Disease ID | 1743 |
|---|---|
| Disease | skin atrophy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1061170 | 23306536 | 3075 | CFH | umls:C0151514 | BeFree | To evaluate a possible association between the complement factor H (CFH) Y402H polymorphism and susceptibility to age-related macular degeneration (AMD) in the Tunisian population, as well as the impact of the genotype distribution among different phenotypes and the response to treatment with intravitreal bevacizumab, exon 9 of CFH was analyzed for the Y402H polymorphism by direct sequencing in 135 healthy controls and 127 sporadic unrelated AMD patients classified into the following groups: 12 atrophic AMD (group G1), 115 exudative AMD (G2) and 10 AMD patients who had fibrovascular scarring (G3) that did not allow a precise grading of the phenotype. | 0.000814326 | 2013 | CFH | 1 | 196690107 | C | T |
| rs121912482 | 9767254 | 3914 | LAMB3 | umls:C0151514 | BeFree | As the third patient is a young child with fewer features of this subtype to date, identification of E210K in combination with a nonsense LAMB3 mutation may be predictive of the subsequent development of a generalized atrophic benign EB phenotype both in this child and in other junctional EB patients with the E210K mutation. | 0.000271442 | 1998 | LAMB3 | 1 | 209633070 | C | T |
| rs3112831 | 21106043 | 24 | ABCA4 | umls:C0151514 | BeFree | A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD, and the functional SNP rs3112831 at ABCA4 showed a marginal association with the disease. | 0.000814326 | 2011 | ABCA4 | 1 | 94078678 | T | G,C |
| rs3112831 | 21106043 | 2258 | FGF13 | umls:C0151514 | BeFree | A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD, and the functional SNP rs3112831 at ABCA4 showed a marginal association with the disease. | 0.000271442 | 2011 | ABCA4 | 1 | 94078678 | T | G,C |
| rs61750130 | 18854780 | 24 | ABCA4 | umls:C0151514 | BeFree | Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy with homozygous ABCA4 mutations P1380L and P1380L. | 0.000814326 | 2009 | ABCA4 | 1 | 94031110 | G | A |
| rs6820411 | 21106043 | 24 | ABCA4 | umls:C0151514 | BeFree | A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD, and the functional SNP rs3112831 at ABCA4 showed a marginal association with the disease. | 0.000814326 | 2011 | NUDT6;SPATA5 | 4 | 122924114 | C | A |
| rs6820411 | 21106043 | 2258 | FGF13 | umls:C0151514 | BeFree | A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD, and the functional SNP rs3112831 at ABCA4 showed a marginal association with the disease. | 0.000271442 | 2011 | NUDT6;SPATA5 | 4 | 122924114 | 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.) | |