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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker group GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Schuurs-Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. 30588754 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Schuurs-Hoeijmakers syndrome (SHMS), or Autosomal Dominant Mental Retardation Syndrome type 17 (MRD17) is a rare form of intellectual disability with distinct facial features. 30690871 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker group GENOMICS_ENGLAND Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. 23159249 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker group GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker group HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.410 GeneticVariation disease 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
CUI: C0028754
Disease: Obesity
Obesity 		0.410 GeneticVariation disease GWASCAT Evaluation of 29 SNPs (P < 1 × 10(-5)) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST). 23563609 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.410 Biomarker disease CTD_human Evaluation of 29 SNPs (P < 1 × 10(-5)) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST). 23563609 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.410 GeneticVariation disease GWASDB Evaluation of 29 SNPs (P < 1 × 10(-5)) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST). 23563609 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019