| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. | 27460420 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. | 26791358 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells. | 23451239 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. | 21311020 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Four-year follow-up of diagnostic service in USH1 patients. | 21436283 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. | 18181211 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. | 16470552 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. | 16679490 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. | 12112664 | 2002 |
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|
A | 0.700 | CausalMutation | CLINVAR | Identification of three novel mutations in the MYO7A gene. | 10447383 | 1999 |
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|
A | 0.700 | GeneticVariation | CLINVAR |