CPNE8, copine 8, 144402

N. diseases: 7; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder. 28115744 2018
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.100 GeneticVariation phenotype GWASCAT Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system. 29769521 2018
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.100 GeneticVariation phenotype GWASCAT GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. 26835600 2016
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASDB Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASCAT Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. 23583979 2013
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		0.010 Biomarker disease BEFREE This study identified <i>CPNE8</i> and <i>BHLHE41</i> as characteristic genes for CCC and HGSC, respectively. 31487856 2019
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		0.010 AlteredExpression group BEFREE We also show that Cpne8 mRNA is upregulated at the terminal stage of disease, supporting a role in prion disease. 19795140 2010
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.010 Biomarker disease BEFREE These genes (CACNA1C, COL2A1, CPNE8, C3F, C12ORF4, DDX11, GDF11, HOXC8, KCNA1, MDS028, TMEM106C, NR4A1, PHB2, PRICKLE1, Q6ZUQ4, SCN8A, TUBA8 and USP18) are located on porcine chromosome 5 (SSC5) and represent positional and functional candidates for arthrogryposis multiplex congenita (AMC), which maps to SSC5. 16734683 2006