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. 2017 Oct 16;7:13190. doi: 10.1038/s41598-017-13196-4

Table 2.

Functional annotation of genes in 14 genes correlated to 9VFs and recapitulating the risk prediction of the 9VFs. Annotation of genes was performed manually through PubMed. Associated citations may be found as part of Supplementary Table S5.

Gene name Activity Disease association
CMYA5** Cardiomyopathy-associated 5 Desmin binding, Vesicular transport Cardiomyopathy, schizophrenia
STAT3** Signal transducer and activator of transcription 3 Signal transduction, Gene transcription Angiogenesis, Vascular leakage
ADH5** alcohol dehydrogenase 5 Opposes NO signaling, protein denitrosylation Impaired cardiovascular function
NLRC4 NLR family CARD domain containing 4 Innate immunity inflammosome Inflammatory disease, infantile enterocolitis
RPL36A*** Ribosomal protein L36 60S ribosomal subunit Translational regulation Hepatocellular carcinoma
RPLP2*** ribosomal protein lateral stalk subunit P2 Phosphoprotein involved in protein elongation Upregulated in many cancers
SLC16A4* Solute carrier family 16 member 4 Monocarboxylate transporter for pH and energy homeostasis Prognostic biomarker in ccRCC
TNFSF8 tumor necrosis factor superfamily member 8 CD30 ligand Inflammation
ZNF16 zinc finger protein 16 Transcription factor Erythroid and megakaryocyte differentiation
IFNA13** interferon alpha 13 Inflammatory/reproductive cytokine Downregulated in dilated cardiomyopathy
SGCB** Sarcoglycan beta Dystrophin complex, sarcoglycan transport Limb-girdle muscular dystrophy cardiomyopathy
KCNJ12** potassium voltage-gated channel subfamily J member 12 Repolarization of cardiac muscle Dilated cardiomyopathy
MED10** mediator complex subunit 10 RNA Pol-II transcriptional regulation Heart valve development
GOSR2** golgi SNAP receptor complex member 2 Vesicular trafficking Familial essential hypertension
*Prognostic renal cancer biomarker **Association with vascular or heart biology ***Cancer association