rs1554698878, HNRNPK

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925 2018
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925 2018
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. 28374925 2018
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 26954065 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 26954065 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. 26954065 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Pfam: the protein families database. 24288371 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. 24990929 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 24501764 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Pfam: the protein families database. 24288371 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Pfam: the protein families database. 24288371 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. 24990929 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 24501764 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. 24990929 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. 24501764 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Activities at the Universal Protein Resource (UniProt). 24253303 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 23455423 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 23455423 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 23455423 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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