Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. | 21922596 | 2012 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. | 20525296 | 2010 | |||||
Atelosteogenesis type 2
|
0.700 | CausalMutation | CLINVAR | Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. | 20525296 | 2010 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. | 21077204 | 2010 | |||||
Atelosteogenesis type 2
|
0.700 | CausalMutation | CLINVAR | New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. | 21077204 | 2010 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. | 15294877 | 2004 | |||||
Atelosteogenesis type 2
|
0.700 | CausalMutation | CLINVAR | Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. | 15294877 | 2004 | |||||
Atelosteogenesis type 2
|
0.700 | CausalMutation | CLINVAR | Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. | 12966518 | 2003 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. | 12525546 | 2003 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. | 12966518 | 2003 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. | 11448940 | 2001 | |||||
Atelosteogenesis type 2
|
0.700 | GeneticVariation | CLINVAR | Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. | 11241838 | 2001 |