Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3554343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		0.810 GeneticVariation 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
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3554343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		T 0.810 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3554343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		0.810 GeneticVariation UNIPROT Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249 2012
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3554343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		T 0.810 CausalMutation CLINVAR Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249 2012
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3554343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 		T 0.810 GeneticVariation CLINVAR Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249 2012