Disease: Muscle hypotonia ×
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: 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: 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: 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: 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: 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: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. 9695949 1998