Gene: PACS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		0.440 Biomarker group GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		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
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		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
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		0.440 GeneticVariation group BEFREE Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		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
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		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
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		0.440 Biomarker group GENOMICS_ENGLAND
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		0.440 Biomarker group HPO