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: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE 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: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
dbSNP: rs564343
rs564343
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0028756
Disease:
Obesity, Morbid 		0.010 GeneticVariation BEFREE We showed for the first time that the rs564343 in PACS1 was associated with risk of severe obesity in a non-European population. 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: 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: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C1861443
Disease:
Facial hemangioma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0020295
Disease:
Hydronephrosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C0426848
Disease:
Sacral dimple 		T 0.700 CausalMutation CLINVAR
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: C0575802
Disease:
Small hand 		T 0.700 CausalMutation CLINVAR
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: C0424711
Disease:
Orbital separation diminished 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C1142533
Disease:
Smooth philtrum 		T 0.700 CausalMutation CLINVAR
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: C0554970
Disease:
Pallor of optic disc 		T 0.700 CausalMutation CLINVAR
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 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 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: C1844813
Disease:
Widely spaced teeth 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398123009
rs398123009
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C1298820
Disease:
Aneurysm of aortic root 		T 0.700 CausalMutation CLINVAR
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