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: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028754
Disease:
Obesity 		0.810 GeneticVariation BEFREE The pooled odds ratios of the A-allele of rs564343 in PACS1 for obesity and severe obesity were 1.180 (p = 0.03) and 1.312 (p = 0.004), respectively. 28564656 2017
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: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028754
Disease:
Obesity 		A 0.810 GeneticVariation GWASCAT Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. 23563609 2013
dbSNP: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028754
Disease:
Obesity 		A 0.810 GeneticVariation GWASDB Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. 23563609 2013
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
dbSNP: rs10896090
rs10896090
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0005586
Disease:
Bipolar Disorder 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
dbSNP: rs187649293
rs187649293
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs489337
rs489337
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0236773
Disease:
Depressed bipolar I disorder 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 28975623 2018
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. 28975623 2018
dbSNP: rs801738
rs801738
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs801742
rs801742
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 26842493 2016
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Clinical delineation of the PACS1-related syndrome--Report on 19 patients. 26842493 2016
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 25522177 2015
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. 25522177 2015
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 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: C0432072
Disease:
Dysmorphic features 		T 0.700 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: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. 9695949 1998