Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report. | 28468609 | 2017 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization. | 27826100 | 2017 |
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|
T | 0.800 | CausalMutation | CLINVAR | Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation. | 24502542 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Tricho-rhino-phalangeal syndrome with supernumerary teeth. | 18946009 | 2008 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. | 28170084 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. | 28050602 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. | 25792522 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. | 25792522 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells. | 23451857 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. | 22964620 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. | 11112658 | 2001 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
GGCAA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |