| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | GeneticVariation | disease | BEFREE | Mutations in PIEZO2 may cause distal arthrogryposis 3 (DA3)/Gordon syndrome (GS), DA5, Marden-Walker syndrome (MWS) and associated diseases. | 30988732 | 2019 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. | 30938034 | 2019 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Dominant PIEZO2 mutations were described in patients with distal arthrogryposis type 5 and Marden-Walker syndrome. | 27974811 | 2017 | ||||
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. | 24726473 | 2014 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. | 24726473 | 2014 | ||||
|
0.740 | CausalMutation | disease | CLINVAR | Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. | 24726473 | 2014 | ||||
|
0.740 | GermlineCausalMutation | disease | ORPHANET | Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. | 24726473 | 2014 | ||||
|
0.740 | GeneticVariation | disease | UNIPROT | Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families. | 24726473 | 2014 | ||||
|
0.740 | Biomarker | disease | CTD_human |