Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		0.730 GeneticVariation disease BEFREE Here, we describe two Japanese patients with Schuurs-Hoeijmakers syndrome with a recurrent PACS1 mutation. 30588754 2019
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		0.730 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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
CUI: C3554343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		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