Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925

2018

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 26954065

2016

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 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

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 24501764

2014

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Pfam: the protein families database. 24288371

2014

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. 24990929

2014

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303

2014

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 23455423

2013

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 21800092

2012

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology. 22102872

2011

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR The NCBI BioSystems database. 19854944

2010

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 20116073

2010

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: 2008 update. 19348700

2009

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 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

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex. 18054780

2008

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system. 16488668

2006

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR hnRNP K: one protein multiple processes. 15170860

2004

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Nonsense-mediated decay approaches the clinic. 15284851

2004

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA. 15364910

2004

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci. 12853611

2003

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K. 12183465

2002

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 11891683

2002

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA. 11867641

2002

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer. 11574481

2001

dbSNP: rs1554698878
rs1554698878
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
A 0.700 GeneticVariation CLINVAR Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation. 10817758

2000