aortic valve insufficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. (Human Disease Ontology, DOID_57)
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Genes

98 genes co-occuring with the disease aortic valve insufficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SSX2IP synovial sarcoma, X breakpoint 2 interacting protein 1.36248
PRAC1 prostate cancer susceptibility candidate 1 1.21738
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 1.07404
NPPA natriuretic peptide A 1.03409
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 1.01385
FBN1 fibrillin 1 1.00077
NOTCH1 notch 1 0.997392
FUT2 fucosyltransferase 2 (secretor status included) 0.949519
ACE angiotensin I converting enzyme 0.94369
DUOXA1 dual oxidase maturation factor 1 0.935385
PRB3 proline-rich protein BstNI subfamily 3 0.906498
CA5B carbonic anhydrase VB, mitochondrial 0.871234
HSPB8 heat shock 22kDa protein 8 0.871234
UBR5 ubiquitin protein ligase E3 component n-recognin 5 0.841344
ALYREF Aly/REF export factor 0.841344
LATS2 large tumor suppressor kinase 2 0.841344
MRAP melanocortin 2 receptor accessory protein 0.816745
TRIM25 tripartite motif containing 25 0.797462
EFS embryonal Fyn-associated substrate 0.778204
IGLV1-47 immunoglobulin lambda variable 1-47 0.769618
CRP C-reactive protein, pentraxin-related 0.752898
NPPB natriuretic peptide B 0.749237
CRCP CGRP receptor component 0.711183
TBX5 T-box 5 0.656837
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 0.608885
PRIMA1 proline rich membrane anchor 1 0.591727
C7ORF49 chromosome 7 open reading frame 49 0.588612
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) 0.584719
GIN1 gypsy retrotransposon integrase 1 0.581606
HLA-E major histocompatibility complex, class I, E 0.581217
IGLV2-14 immunoglobulin lambda variable 2-14 0.576161
SIRPA signal-regulatory protein alpha 0.574994
ARR3 arrestin 3, retinal (X-arrestin) 0.562946
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 0.554403
ONECUT3 one cut homeobox 3 0.535022
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.534248
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.533475
HLA-B major histocompatibility complex, class I, B 0.525746
RNF34 ring finger protein 34, E3 ubiquitin protein ligase 0.524202
FOXO4 forkhead box O4 0.508424
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa 0.505739
GATA5 GATA binding protein 5 0.457109
AATF apoptosis antagonizing transcription factor 0.455978
ELN elastin 0.434524
MON1A MON1 secretory trafficking family member A 0.421765
PRTN3 proteinase 3 0.410161
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 0.406798
RHOF ras homolog family member F (in filopodia) 0.406051
CORIN corin, serine peptidase 0.404184
RFX1 regulatory factor X, 1 (influences HLA class II expression) 0.40008
FBLN1 fibulin 1 0.39598
FN1 fibronectin 1 0.39598
DLX5 distal-less homeobox 5 0.391885
NPR3 natriuretic peptide receptor 3 0.382223
ACTA2 actin, alpha 2, smooth muscle, aorta 0.355972
INVS inversin 0.354499
HLA-DOB major histocompatibility complex, class II, DO beta 0.340906
ACVR1 activin A receptor, type I 0.331391
PDZK1IP1 PDZK1 interacting protein 1 0.32373
CTF1 cardiotrophin 1 0.320817
MASP2 mannan-binding lectin serine peptidase 2 0.318272
NPPC natriuretic peptide C 0.312827
MAP9 microtubule-associated protein 9 0.312464
APLNR apelin receptor 0.31029
MRI1 methylthioribose-1-phosphate isomerase 1 0.304142
TNNI3 troponin I type 3 (cardiac) 0.289386
CA2 carbonic anhydrase II 0.280082
DYNLT1 dynein, light chain, Tctex-type 1 0.27794
F7 coagulation factor VII (serum prothrombin conversion accelerator) 0.275445
MIXL1 Mix paired-like homeobox 0.268332
ENPEP glutamyl aminopeptidase (aminopeptidase A) 0.264077
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 0.263014
HP haptoglobin 0.247852
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 0.247501
HPR haptoglobin-related protein 0.241895
GALNS galactosamine (N-acetyl)-6-sulfatase 0.235964
KLF6 Kruppel-like factor 6 0.232836
PLIN1 perilipin 1 0.232489
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.230755
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.229716
TIMP4 TIMP metallopeptidase inhibitor 4 0.227988
BMP2 bone morphogenetic protein 2 0.216672
JUN jun proto-oncogene 0.213283
MTDH metadherin 0.211261
RRM2 ribonucleotide reductase M2 0.196779
SRI sorcin 0.185016
INA internexin neuronal intermediate filament protein, alpha 0.184128
VAV1 vav 1 guanine nucleotide exchange factor 0.183248
MYC v-myc avian myelocytomatosis viral oncogene homolog 0.177301
PTH parathyroid hormone 0.175411
VWF von Willebrand factor 0.173832
CPB1 carboxypeptidase B1 (tissue) 0.173571
MMP2 matrix metallopeptidase 2 0.171036
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.169812
IL31RA interleukin 31 receptor A 0.166544
APOH apolipoprotein H (beta-2-glycoprotein I) 0.161331
FBN2 fibrillin 2 0.161139
GUSB glucuronidase, beta 0.160203