|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
|
26954065 |
2016 |
|
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 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.
|
24990929 |
2014 |
|
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
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Pfam: the protein families database.
|
24288371 |
2014 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Activities at the Universal Protein Resource (UniProt).
|
24253303 |
2014 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
|
23455423 |
2013 |
|
Multiple congenital anomalies
|
|
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 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.
|
22102872 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
|
Multiple congenital anomalies
|
|
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 |
|
Multiple congenital anomalies
|
|
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 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The Human Gene Mutation Database: 2008 update.
|
19348700 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.
|
18054780 |
2008 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.
|
16488668 |
2006 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
hnRNP K: one protein multiple processes.
|
15170860 |
2004 |
|
Multiple congenital anomalies
|
|
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 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Nonsense-mediated decay approaches the clinic.
|
15284851 |
2004 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.
|
12853611 |
2003 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.
|
11891683 |
2002 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.
|
12183465 |
2002 |
|
Multiple congenital anomalies
|
|
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 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.
|
11574481 |
2001 |
|
Multiple congenital anomalies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.
|
10817758 |
2000 |