Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | disease | BEFREE | Here, we describe two Japanese patients with Schuurs-Hoeijmakers syndrome with a recurrent PACS1 mutation. | 30588754 | 2019 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | Here we describe the first Indian patient with Schuurs-Hoeijmakers syndrome (SHMS) with a de novo heterozygous NM_018026.3 (PACS1):c.607C>T (p.Arg203Trp) variant. | 30690871 | 2019 | ||||
|
0.730 | GeneticVariation | disease | BEFREE | A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. | 28975623 | 2018 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 | ||||
|
0.730 | GeneticVariation | disease | UNIPROT | Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. | 23159249 | 2012 | ||||
|
0.730 | CausalMutation | disease | CLINVAR | Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. | 23159249 | 2012 | ||||
|
0.730 | GeneticVariation | disease | CLINVAR | Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. | 23159249 | 2012 | ||||
|
0.730 | Biomarker | disease | GENOMICS_ENGLAND | Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. | 23159249 | 2012 | ||||
|
0.730 | GermlineCausalMutation | disease | ORPHANET | Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. | 23159249 | 2012 |