geleophysic dysplasia |
Disease ID | 1476 |
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Disease | geleophysic dysplasia |
Synonym | geleophysic dwarfism geleophysic dwarfism syndrome geleophysic dysplasia (disorder) |
Orphanet | |
UMLS | C3489726 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | Symbol | Locus(Total Locus:3) |
Disease ID | 1476 |
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Disease | geleophysic dysplasia |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
Disease ID | 1476 |
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Disease | geleophysic dysplasia |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs387907065 | 20862248 | 9719 | ADAMTSL2 | umls:C3489726 | BeFree | Sequence analysis of a candidate gene at this locus, ADAMTSL2, which is responsible for the human TGFβ dysregulation syndrome, Geleophysic Dysplasia (GD), uncovered a mutation in exon 7 (c.660C>T; p.R221C) perfectly associated with MLS (p-value=10(-12)). | 0.122442977 | 2010 | ADAMTSL2 | 9 | 133540980 | 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.) |
Disease ID | 1476 |
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Disease | geleophysic dysplasia |
Case | (Waiting for update.) |