PedAM
Pediatric Disease Annotations & Medicines
| primary congenital glaucoma | ||||
| Disease ID | 947 |
|---|---|
| Disease | primary congenital glaucoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0001123 | Partial loss of field of vision | 1 HP:0009916 | Asymmetric pupil sizes | 1 HP:0000078 | Genital abnormalities | 1 HP:0001083 | Dislocated lenses | 1 HP:0000618 | Blindness | 1 HP:0001067 | Neurofibromas | 1 HP:0000541 | Detached retina | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0012230 | Rhegmatogenous retinal detachment | 1 HP:0007700 | Anterior segment dysgenesis | 1 |
| Disease ID | 947 |
|---|---|
| Disease | primary congenital glaucoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042713 | 13680034 | 154 | ADRB2 | umls:C1533041 | BeFree | These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma. | 0.000271442 | 2003 | ADRB2 | 5 | 148826877 | G | A |
| rs1042714 | 13680034 | 154 | ADRB2 | umls:C1533041 | BeFree | These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma. | 0.000271442 | 2003 | ADRB2 | 5 | 148826910 | G | C,T |
| rs1800888 | 13680034 | 154 | ADRB2 | umls:C1533041 | BeFree | These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma. | 0.000271442 | 2003 | ADRB2 | 5 | 148827322 | C | T |
| rs201181935 | 20151268 | 1545 | CYP1B1 | umls:C1533041 | BeFree | Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. | 0.025168149 | 2010 | CYP1B1 | 2 | 38071064 | G | C |
| rs56175199 | 15723004 | 1545 | CYP1B1 | umls:C1533041 | BeFree | One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T, Pro437Leu) and (c.1449G>A, Arg368His), respectively. | 0.025168149 | 2005 | CYP1B1 | 2 | 38071044 | G | A,T |
| rs72549379 | 20151268 | 1545 | CYP1B1 | umls:C1533041 | BeFree | Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. | 0.025168149 | 2010 | CYP1B1 | 2 | 38071264 | C | T |
| rs79204362 | 15723004 | 1545 | CYP1B1 | umls:C1533041 | BeFree | One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T, Pro437Leu) and (c.1449G>A, Arg368His), respectively. | 0.025168149 | 2005 | CYP1B1 | 2 | 38071251 | C | T |
| rs79204362 | 14507861 | 1545 | CYP1B1 | umls:C1533041 | BeFree | Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. | 0.025168149 | 2003 | CYP1B1 | 2 | 38071251 | C | T |
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.) | |