aortic valve disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description Updating out dated UMLS CUI. (Human Disease Ontology, DOID_62)
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Genes

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

Symbol Name Standardized Value
ELN elastin 2.2816
PDLIM1 PDZ and LIM domain 1 2.00424
ACE angiotensin I converting enzyme 1.45485
VWF von Willebrand factor 1.29615
NOTCH1 notch 1 1.26778
NPPA natriuretic peptide A 1.26124
FBN1 fibrillin 1 1.24428
SPP1 secreted phosphoprotein 1 1.23386
CRP C-reactive protein, pentraxin-related 1.22779
BMP2 bone morphogenetic protein 2 1.22779
GTF2IRD1 GTF2I repeat domain containing 1 1.18109
GTF2I general transcription factor IIi 1.16992
RUNX2 runt-related transcription factor 2 1.12952
LECT1 leukocyte cell derived chemotaxin 1 1.11267
NPPB natriuretic peptide B 1.09839
HGD homogentisate 1,2-dioxygenase 1.0816
GATA5 GATA binding protein 5 1.02102
LIMK1 LIM domain kinase 1 1.01343
SSX2IP synovial sarcoma, X breakpoint 2 interacting protein 0.980952
EFS embryonal Fyn-associated substrate 0.966244
TNNI3 troponin I type 3 (cardiac) 0.960797
MMP2 matrix metallopeptidase 2 0.95369
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1 0.946186
SPTBN1 spectrin, beta, non-erythrocytic 1 0.892948
MMP9 matrix metallopeptidase 9 0.873691
MGP matrix Gla protein 0.829459
SLC20A1 solute carrier family 20 (phosphate transporter), member 1 0.826999
CALN1 calneuron 1 0.817155
NELFA negative elongation factor complex member A 0.813462
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b 0.784755
DNAH8 dynein, axonemal, heavy chain 8 0.779432
ACYP1 acylphosphatase 1, erythrocyte (common) type 0.776159
TNNT2 troponin T type 2 (cardiac) 0.757786
BGN biglycan 0.756564
NOS3 nitric oxide synthase 3 (endothelial cell) 0.741923
LDLR low density lipoprotein receptor 0.730976
AHSG alpha-2-HS-glycoprotein 0.730166
REN renin 0.71925
ALPL alkaline phosphatase, liver/bone/kidney 0.713601
TIMP1 TIMP metallopeptidase inhibitor 1 0.707157
PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 0.706351
PRB3 proline-rich protein BstNI subfamily 3 0.705144
ALPPL2 alkaline phosphatase, placental-like 2 0.696707
ALPP alkaline phosphatase, placental 0.696306
FUT2 fucosyltransferase 2 (secretor status included) 0.693499
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.693499
BGLAP bone gamma-carboxyglutamate (gla) protein 0.691495
APOB apolipoprotein B 0.690694
NPPC natriuretic peptide C 0.690293
FN1 fibronectin 1 0.684292
TGFB1 transforming growth factor, beta 1 0.681096
ACYP2 acylphosphatase 2, muscle type 0.676706
ACP6 acid phosphatase 6, lysophosphatidic 0.676308
ICAM1 intercellular adhesion molecule 1 0.66755
TNC tenascin C 0.667152
CA5B carbonic anhydrase VB, mitochondrial 0.66199
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 0.657234
MMP1 matrix metallopeptidase 1 0.648928
UBR5 ubiquitin protein ligase E3 component n-recognin 5 0.640645
FBLN1 fibulin 1 0.635921
DCN decorin 0.627672
PTGDR prostaglandin D2 receptor (DP) 0.619442
TIMP2 TIMP metallopeptidase inhibitor 2 0.60303
F3 coagulation factor III (thromboplastin, tissue factor) 0.592895
CPLX4 complexin 4 0.590169
JAG1 jagged 1 0.58005
DUOXA1 dual oxidase maturation factor 1 0.575772
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.565277
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 0.564889
SP7 Sp7 transcription factor 0.563723
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 0.55945
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit 0.559062
APOC4 apolipoprotein C-IV 0.55712
SOX9 SRY (sex determining region Y)-box 9 0.554015
PLN phospholamban 0.550134
WBSCR22 Williams Beuren syndrome chromosome region 22 0.549359
NSUN5 NOP2/Sun domain family, member 5 0.548971
SMAD2 SMAD family member 2 0.540055
CMA1 chymase 1, mast cell 0.528835
LUM lumican 0.524974
RGS18 regulator of G-protein signaling 18 0.520346
IGLV1-36 immunoglobulin lambda variable 1-36 0.519575
CS citrate synthase 0.518034
TLR4 toll-like receptor 4 0.513033
BMP4 bone morphogenetic protein 4 0.512648
TIMP4 TIMP metallopeptidase inhibitor 4 0.51188
ITGB1BP2 integrin beta 1 binding protein (melusin) 2 0.509959
MON1A MON1 secretory trafficking family member A 0.508424
IDUA iduronidase, alpha-L- 0.502292
BCL7B B-cell CLL/lymphoma 7B 0.501909
APOA1 apolipoprotein A-I 0.500761
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 0.500379
ALYREF Aly/REF export factor 0.487407
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 0.484744
ADRB1 adrenoceptor beta 1 0.483985
PLAC8 placenta-specific 8 0.480945
TTN titin 0.480566
APOE apolipoprotein E 0.478668
TBL2 transducin (beta)-like 2 0.476014
EDN1 endothelin 1 0.476014
AGTR1 angiotensin II receptor, type 1 0.470332
MRAP melanocortin 2 receptor accessory protein 0.465038
COG2 component of oligomeric golgi complex 2 0.460129
GFPT2 glutamine-fructose-6-phosphate transaminase 2 0.458996
GLS glutaminase 0.458619
VCX variable charge, X-linked 0.457864
LRSAM1 leucine rich repeat and sterile alpha motif containing 1 0.457864
IGLV1-47 immunoglobulin lambda variable 1-47 0.455224
CD68 CD68 molecule 0.455224
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.454847
GALNS galactosamine (N-acetyl)-6-sulfatase 0.454093
VCAN versican 0.451078
SIRPA signal-regulatory protein alpha 0.448064
TRIM25 tripartite motif containing 25 0.446935
GH2 growth hormone 2 0.445805
IGLV2-14 immunoglobulin lambda variable 2-14 0.443923
VCX2 variable charge, X-linked 2 0.433772
PTH parathyroid hormone 0.429642
PDZK1IP1 PDZK1 interacting protein 1 0.42739
ALB albumin 0.42739
IL6 interleukin 6 0.42664
HPD 4-hydroxyphenylpyruvate dioxygenase 0.415024
GATA4 GATA binding protein 4 0.414276
IBSP integrin-binding sialoprotein 0.401945
VCX3B variable charge, X-linked 3B 0.398589
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.398589
FBLN5 fibulin 5 0.394491
VCAM1 vascular cell adhesion molecule 1 0.394118
CPB1 carboxypeptidase B1 (tissue) 0.391885
TPM1 tropomyosin 1 (alpha) 0.388909
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.388538
FBN2 fibrillin 2 0.382966
ACTA2 actin, alpha 2, smooth muscle, aorta 0.380739
VCX3A variable charge, X-linked 3A 0.378143
BAZ1B bromodomain adjacent to zinc finger domain, 1B 0.376661
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 0.374068
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 0.373698
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.372587
ZMYM3 zinc finger, MYM-type 3 0.370368
CRCP CGRP receptor component 0.367779
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.359657
RCAN1 regulator of calcineurin 1 0.358183
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 0.355235
TNMD tenomodulin 0.353395
KNG1 kininogen 1 0.353395
EHD1 EH-domain containing 1 0.351187
TBX1 T-box 1 0.346409
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.346042
MTTP microsomal triglyceride transfer protein 0.345308
CTF1 cardiotrophin 1 0.344941
TLR2 toll-like receptor 2 0.340173
LRP5 low density lipoprotein receptor-related protein 5 0.33944
BAMBI BMP and activin membrane-bound inhibitor 0.339073
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 0.336144
JARID2 jumonji, AT rich interactive domain 2 0.335778
EMILIN1 elastin microfibril interfacer 1 0.335778
LAX1 lymphocyte transmembrane adaptor 1 0.335412
APLNR apelin receptor 0.334681
MLX MLX, MAX dimerization protein 0.334315
HBA2 hemoglobin, alpha 2 0.333949
WNT3A wingless-type MMTV integration site family, member 3A 0.330295
JPH2 junctophilin 2 0.328105
MYOM2 myomesin 2 0.327375
MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 0.323365
VARS valyl-tRNA synthetase 0.323365
KLF15 Kruppel-like factor 15 0.322637
FMOD fibromodulin 0.320454
IDS iduronate 2-sulfatase 0.319363
TBX5 T-box 5 0.318272
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 0.317909
GLS2 glutaminase 2 (liver, mitochondrial) 0.315366
BCL7A B-cell CLL/lymphoma 7A 0.315003
WDR20 WD repeat domain 20 0.314278
MYL12B myosin, light chain 12B, regulatory 0.312827
SELP selectin P (granule membrane protein 140kDa, antigen CD62) 0.312464
GJA1 gap junction protein, alpha 1, 43kDa 0.304142
CCNDBP1 cyclin D-type binding-protein 1 0.30342
HBA1 hemoglobin, alpha 1 0.302337
CCL2 chemokine (C-C motif) ligand 2 0.292616
TIMP3 TIMP metallopeptidase inhibitor 3 0.292257
PON1 paraoxonase 1 0.291539
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 0.286519
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 0.286519
F8 coagulation factor VIII, procoagulant component 0.28616
MMP3 matrix metallopeptidase 3 0.279367
CTSS cathepsin S 0.27794
GATA6 GATA binding protein 6 0.276514
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 0.274376
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 0.274021
CTSV cathepsin V 0.273308
OGN osteoglycin 0.27153
FLNA filamin A, alpha 0.271174
ACTN1 actinin, alpha 1 0.269398
ZIC3 Zic family member 3 0.265494
HP haptoglobin 0.262306
COL18A1 collagen, type XVIII, alpha 1 0.259124
PRIMA1 proline rich membrane anchor 1 0.258417
PRAMEF6 PRAME family member 6 0.258064
HPR haptoglobin-related protein 0.256652
USO1 USO1 vesicle transport factor 0.256652
C7ORF49 chromosome 7 open reading frame 49 0.255946
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 0.255241
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.253127
VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) 0.252422
MMP14 matrix metallopeptidase 14 (membrane-inserted) 0.25207
TPTE transmembrane phosphatase with tensin homology 0.25207
PRAC1 prostate cancer susceptibility candidate 1 0.249608
GIN1 gypsy retrotransposon integrase 1 0.249257
HLA-E major histocompatibility complex, class I, E 0.249257
PLTP phospholipid transfer protein 0.248905
GAPDH glyceraldehyde-3-phosphate dehydrogenase 0.246799
MUS81 MUS81 structure-specific endonuclease subunit 0.246098
ATP2A3 ATPase, Ca++ transporting, ubiquitous 0.246098
C1ORF174 chromosome 1 open reading frame 174 0.243295
CTGF connective tissue growth factor 0.242595
SLC30A2 solute carrier family 30 (zinc transporter), member 2 0.242595
TBX20 T-box 20 0.240148
CST3 cystatin C 0.239799
LIN7A lin-7 homolog A (C. elegans) 0.238054
AUTS2 autism susceptibility candidate 2 0.233878
ARR3 arrestin 3, retinal (X-arrestin) 0.232489
JUN jun proto-oncogene 0.232142
TXNIP thioredoxin interacting protein 0.232142
AK2 adenylate kinase 2 0.231102
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 0.229716
FAM131C family with sequence similarity 131, member C 0.226262
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1 0.224884
PFKM phosphofructokinase, muscle 0.22454
AGER advanced glycosylation end product-specific receptor 0.224196
F7 coagulation factor VII (serum prothrombin conversion accelerator) 0.210925
PCSK9 proprotein convertase subtilisin/kexin type 9 0.209248
ONECUT3 one cut homeobox 3 0.207912
ADCY2 adenylate cyclase 2 (brain) 0.20658
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.204593
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.202618
BMF Bcl2 modifying factor 0.202618
HLA-B major histocompatibility complex, class I, B 0.200331
RNF34 ring finger protein 34, E3 ubiquitin protein ligase 0.198709
IGLV2-8 immunoglobulin lambda variable 2-8 0.196139
FBLN2 fibulin 2 0.193285
BCL9 B-cell CLL/lymphoma 9 0.192971
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 0.192031
TUBGCP4 tubulin, gamma complex associated protein 4 0.191719
TAS1R1 taste receptor, type 1, member 1 0.188022
MYBPC3 myosin binding protein C, cardiac 0.187719
F2 coagulation factor II (thrombin) 0.18651
FOXO4 forkhead box O4 0.18621
PIR pirin (iron-binding nuclear protein) 0.185313
HAPLN1 hyaluronan and proteoglycan link protein 1 0.18472
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 0.184128
INS insulin 0.184128
LACTB lactamase, beta 0.183835
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa 0.183835
PNKD paroxysmal nonkinesigenic dyskinesia 0.183835
FOS FBJ murine osteosarcoma viral oncogene homolog 0.176757
MB myoglobin 0.176485
LY6E lymphocyte antigen 6 complex, locus E 0.173571
TMEM245 transmembrane protein 245 0.173571
EDN3 endothelin 3 0.173057
PERP PERP, TP53 apoptosis effector 0.172038
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.171535
AURKAIP1 aurora kinase A interacting protein 1 0.171535
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 0.171286
MYO7A myosin VIIA 0.171286
EXTL3 exostosin-like glycosyltransferase 3 0.171286
HES5 hes family bHLH transcription factor 5 0.167948
CA2 carbonic anhydrase II 0.167224
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.166768
S100A9 S100 calcium binding protein A9 0.164571
LPA lipoprotein, Lp(a) 0.163729
PTPRF protein tyrosine phosphatase, receptor type, F 0.162306
VEGFA vascular endothelial growth factor A 0.162306
TNFRSF14 tumor necrosis factor receptor superfamily, member 14 0.160282
ESPN espin 0.160021
HSPD1 heat shock 60kDa protein 1 (chaperonin) 0.160021
MGEA5 meningioma expressed antigen 5 (hyaluronidase) 0.159302
PEX10 peroxisomal biogenesis factor 10 0.159124
PGRMC1 progesterone receptor membrane component 1 0.148355
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 0.146359
PRRC2A proline-rich coiled-coil 2A 0.144525
HIP1 huntingtin interacting protein 1 0.141175
PICALM phosphatidylinositol binding clathrin assembly protein 0.140863
ADRB2 adrenoceptor beta 2, surface 0.140053
CALCA calcitonin-related polypeptide alpha 0.139617
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.138646
HSPB8 heat shock 22kDa protein 8 0.138501
LATS2 large tumor suppressor kinase 2 0.138093
DLX5 distal-less homeobox 5 0.137755
CORIN corin, serine peptidase 0.13762
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.131277
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.129827
PROM1 prominin 1 0.128553
AATF apoptosis antagonizing transcription factor 0.128537
MLXIPL MLX interacting protein-like 0.127966
PRTN3 proteinase 3 0.126364
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 0.126189
RHOF ras homolog family member F (in filopodia) 0.126149
RFX1 regulatory factor X, 1 (influences HLA class II expression) 0.125834
NOS1 nitric oxide synthase 1 (neuronal) 0.125753
NPR3 natriuretic peptide receptor 3 0.12484
CKM creatine kinase, muscle 0.124028
INVS inversin 0.123154
HLA-DOB major histocompatibility complex, class II, DO beta 0.122253
ACVR1 activin A receptor, type I 0.121594
MASP2 mannan-binding lectin serine peptidase 2 0.120645
MAP9 microtubule-associated protein 9 0.120205
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 0.119729
MRI1 methylthioribose-1-phosphate isomerase 1 0.119559
DYNLT1 dynein, light chain, Tctex-type 1 0.117372
MIXL1 Mix paired-like homeobox 0.11651
ENPEP glutamyl aminopeptidase (aminopeptidase A) 0.116116
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 0.114516
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 0.113369
KLF6 Kruppel-like factor 6 0.113004
PLIN1 perilipin 1 0.112968
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.112781
MTDH metadherin 0.110582
CD34 CD34 molecule 0.10994
ACTC1 actin, alpha, cardiac muscle 1 0.109489
KLHL17 kelch-like family member 17 0.109284
ENO3 enolase 3 (beta, muscle) 0.10912
THBS4 thrombospondin 4 0.10912
BLVRA biliverdin reductase A 0.109079
UST uronyl-2-sulfotransferase 0.109079
RRM2 ribonucleotide reductase M2 0.108783
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 0.108614
SCN5A sodium channel, voltage gated, type V alpha subunit 0.10853
KRAS Kirsten rat sarcoma viral oncogene homolog 0.10853
LEMD3 LEM domain containing 3 0.108277
PDS5B PDS5 cohesin associated factor B 0.108066
GRIA3 glutamate receptor, ionotropic, AMPA 3 0.107459
SRI sorcin 0.107156
OPN3 opsin 3 0.107156
INA internexin neuronal intermediate filament protein, alpha 0.107026
MPG N-methylpurine-DNA glycosylase 0.106938
VAV1 vav 1 guanine nucleotide exchange factor 0.106893
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.106848
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 0.106358
IGLV3-10 immunoglobulin lambda variable 3-10 0.106314
RERE arginine-glutamic acid dipeptide (RE) repeats 0.106091
TERF2 telomeric repeat binding factor 2 0.106047
MYC v-myc avian myelocytomatosis viral oncogene homolog 0.105958
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 0.105731
LSR lipolysis stimulated lipoprotein receptor 0.105548
HYAL1 hyaluronoglucosaminidase 1 0.104908
GDF15 growth differentiation factor 15 0.104676
CAMK2G calcium/calmodulin-dependent protein kinase II gamma 0.10463
IL31RA interleukin 31 receptor A 0.103973
JUNB jun B proto-oncogene 0.102972
GJC1 gap junction protein, gamma 1, 45kDa 0.102924
APOH apolipoprotein H (beta-2-glycoprotein I) 0.10278
GUSB glucuronidase, beta 0.102492
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 0.102048
NPC1L1 NPC1-like 1 0.10195
HRAS Harvey rat sarcoma viral oncogene homolog 0.101851
NOX4 NADPH oxidase 4 0.101851
IL18 interleukin 18 0.101851