Gene: HNRNPK ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation disease CLINVAR Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 24501764 2014
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation disease CLINVAR Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. 24990929 2014
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation disease 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 		0.100 GeneticVariation disease CLINVAR A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 26954065 2016
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation disease CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925 2018