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 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions. 19170760

2009
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 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 20116073

2010
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
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009