| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.510 | Biomarker | disease | BEFREE | We also excluded in our family the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identified as a causal gene in dentin dysplasia type I with microdontia and misshapen teeth. | 23712319 | 2013 | ||||
|
0.510 | Biomarker | disease | GENOMICS_ENGLAND | Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. | 22152679 | 2011 | ||||
|
0.510 | Biomarker | disease | CTD_human | |||||||
|
0.310 | Biomarker | disease | BEFREE | Mice heterozygous for Vps4b did not develop tooth defects replicating human DD-I. | 30634912 | 2019 | ||||
|
0.310 | GermlineCausalMutation | disease | ORPHANET | Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. | 27680507 | 2017 | ||||
|
0.310 | GeneticVariation | disease | BEFREE | Using a large Chinese family with 14 DDI patients, we mapped the gene locus responsible for DDI to 3p26.1-3p24.3 and further identified a missense mutation, c.353C>A (p.P118Q) in the SSUH2 gene on 3p26.1, which co-segregated with DDI. | 27680507 | 2017 | ||||
|
0.310 | GermlineCausalMutation | disease | ORPHANET | A splicing mutation in VPS4B causes dentin dysplasia I. | 27247351 | 2016 | ||||
|
0.310 | Biomarker | disease | BEFREE | Four males and females family members born from healthy consanguineous parents are carriers of the typical features of the dentin dysplasia type I. Polymorphic markers that span the DSPP gene, allowed us to show that this locus is not linked to dentin dysplasia in our family. | 23712319 | 2013 | ||||
|
0.310 | GermlineCausalMutation | disease | ORPHANET | |||||||
|
0.100 | Biomarker | disease | HPO |