Property Summary

NCBI Gene PubMed Count 12
PubMed Score 7.03
PubTator Score 4.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Disease Z-score Confidence
CATARACT 42 1
Cataract 104 4.0

Expression

Gene RIF (3)

PMID Text
23508780 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
23496965 The cell-stress molecules alphaB-crystallin and iNOS are overexpressed in GNE myopathy muscle and may identify early disease mechanisms.
20546612 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSSAPAPGPAPASLTLWDEEDFQGRRCRLLSDCANVCERGGLPRVRSVKVENGVWVAFEYPDFQGQQFIL      1 - 70
EKGDYPRWSAWSGSSSHNSNQLLSFRPVLCANHNDSRVTLFEGDNFQGCKFDLVDDYPSLPSMGWASKDV     71 - 140
GSLKVSSGAWVAYQYPGYRGYQYVLERDRHSGEFCTYGELGTQAHTGQLQSIRRVQH                 141 - 197
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Publication (14)

PMID Year Title
25814554 2015 Phospho-tyrosine dependent protein-protein interaction network.
24035193 2013 Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
23496965 2013 Cell stress molecules in the skeletal muscle of GNE myopathy.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
19060904 2009 An empirical framework for binary interactome mapping.
18391951 2008 Many sequence variants affecting diversity of adult human height.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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