| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Usher syndrome. | 21697857 | 2011 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. | 20142502 | 2010 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. | 16283141 | 2005 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. | 12588794 | 2003 | |||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. | 21569298 | 2011 | ||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. | 20142502 | 2010 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. | 16283141 | 2005 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. | 12588794 | 2003 | |||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. | 12588794 | 2003 | ||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. | 11941484 | 2002 | ||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
AC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR |