Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. 24990929

2014
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. 26173930

2015
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 26954065

2016
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925

2018