diaphragm disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A muscular disease that is located_in the diaphragm. (Human Disease Ontology, DOID_10481)
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Genes

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

Symbol Name Standardized Value
STRA6 stimulated by retinoic acid 6 1.86415
ZFPM2 zinc finger protein, FOG family member 2 1.80427
IGHMBP2 immunoglobulin mu binding protein 2 1.25994
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.13416
FBN1 fibrillin 1 0.783526
PTER phosphotriesterase related 0.698313
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.578106
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.480945
TH tyrosine hydroxylase 0.37592
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.324944
LAX1 lymphocyte transmembrane adaptor 1 0.314278
PAX3 paired box 3 0.290821
GATA4 GATA binding protein 4 0.290342
TEF thyrotrophic embryonic factor 0.279486
ALDH1A2 aldehyde dehydrogenase 1 family, member A2 0.262424
DEFB135 defensin, beta 135 0.25207
HLX H2.0-like homeobox 0.245163
LRTM1 leucine-rich repeats and transmembrane domains 1 0.244462
FGF10 fibroblast growth factor 10 0.230063
EFNB1 ephrin-B1 0.230063
YIPF6 Yip1 domain family, member 6 0.229601
DISP1 dispatched homolog 1 (Drosophila) 0.218943
SFTPB surfactant protein B 0.216445
DEFB134 defensin, beta 134 0.214636
FGF18 fibroblast growth factor 18 0.212046
SFTPC surfactant protein C 0.210813
ZNHIT3 zinc finger, HIT-type containing 3 0.210477
TMX3 thioredoxin-related transmembrane protein 3 0.206802
FBXO28 F-box protein 28 0.205364
CCDC102B coiled-coil domain containing 102B 0.204373
TCTE3 t-complex-associated-testis-expressed 3 0.20229
HOMER2 homer scaffolding protein 2 0.200765
HEPHL1 hephaestin-like 1 0.199789
TADA2A transcriptional adaptor 2A 0.197099
SLIT3 slit homolog 3 (Drosophila) 0.195607
NR2F1 nuclear receptor subfamily 2, group F, member 1 0.194654
PIGW phosphatidylinositol glycan anchor biosynthesis, class W 0.193705
FGFRL1 fibroblast growth factor receptor-like 1 0.191823
HDGFRP3 hepatoma-derived growth factor, related protein 3 0.190786
NKX2-1 NK2 homeobox 1 0.190168
DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 0.189244
AP3B2 adaptor-related protein complex 3, beta 2 subunit 0.186711
ARRDC4 arrestin domain containing 4 0.183737
CDH18 cadherin 18, type 2 0.172291
FREM1 FRAS1 related extracellular matrix 1 0.171953
NEIL2 nei endonuclease VIII-like 2 (E. coli) 0.168381
DSEL dermatan sulfate epimerase-like 0.164858
ELN elastin 0.163454
GATA6 GATA binding protein 6 0.161847
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 0.160142
HOXB5 homeobox B5 0.158097
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 0.157711
SF3B4 splicing factor 3b, subunit 4, 49kDa 0.155306
HCCS holocytochrome c synthase 0.151743
PJA1 praja ring finger 1, E3 ubiquitin protein ligase 0.151708
SYNRG synergin, gamma 0.151499
BCAS2 breast carcinoma amplified sequence 2 0.150103
GGNBP2 gametogenetin binding protein 2 0.149088
NOS3 nitric oxide synthase 3 (endothelial cell) 0.14873
DUSP14 dual specificity phosphatase 14 0.148046
FGF7 fibroblast growth factor 7 0.148007
MYH4 myosin, heavy chain 4, skeletal muscle 0.147871
CPLX3 complexin 3 0.147815
EDNRA endothelin receptor type A 0.14776
WNT7B wingless-type MMTV integration site family, member 7B 0.147615
ACTB actin, beta 0.147615
CDH12 cadherin 12, type 2 (N-cadherin 2) 0.147544
SHH sonic hedgehog 0.147198
ACTG1 actin gamma 1 0.146446
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 0.14614
PROS2P protein S (beta) pseudogene 0.14585
AQP5 aquaporin 5 0.145759
PDE5A phosphodiesterase 5A, cGMP-specific 0.145759
LRP2 low density lipoprotein receptor-related protein 2 0.145605
CDH19 cadherin 19, type 2 0.145499
IGLV6-57 immunoglobulin lambda variable 6-57 0.145428
STARD8 StAR-related lipid transfer (START) domain containing 8 0.145325
SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) 0.145313
CDH8 cadherin 8, type 2 0.145162
SMOX spermine oxidase 0.145118
ARID3B AT rich interactive domain 3B (BRIGHT-like) 0.145
WT1 Wilms tumor 1 0.144838
HOXA3 homeobox A3 0.144831
KIF7 kinesin family member 7 0.144795
GPC6 glypican 6 0.144708
FBLN5 fibulin 5 0.144686
SCNN1B sodium channel, non voltage gated 1 beta subunit 0.144608
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 0.144599
PLAA phospholipase A2-activating protein 0.14449
ST7 suppression of tumorigenicity 7 0.144478
IRX1 iroquois homeobox 1 0.144462
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.144459
HOXC4 homeobox C4 0.14442
FGF9 fibroblast growth factor 9 0.14442
PAOX polyamine oxidase (exo-N4-amino) 0.14439
NIPBL Nipped-B homolog (Drosophila) 0.144316
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.144294
LHX1 LIM homeobox 1 0.144275
ATN1 atrophin 1 0.144272
APLN apelin 0.144272
SCNN1A sodium channel, non voltage gated 1 alpha subunit 0.144231
FGF1 fibroblast growth factor 1 (acidic) 0.144228
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) 0.144226
BMP4 bone morphogenetic protein 4 0.144179
WNT2 wingless-type MMTV integration site family member 2 0.144179
HOXD3 homeobox D3 0.144162
FOXF2 forkhead box F2 0.144109
EDN1 endothelin 1 0.143975
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) 0.143951
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 0.14393
IRX3 iroquois homeobox 3 0.143927
TIMP1 TIMP metallopeptidase inhibitor 1 0.143865
LTBP4 latent transforming growth factor beta binding protein 4 0.14384
PGRMC1 progesterone receptor membrane component 1 0.143834
GCAT glycine C-acetyltransferase 0.143756
FLT1 fms-related tyrosine kinase 1 0.143753
HOXB3 homeobox B3 0.143747
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 0.14374
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.14359
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 0.143565
GSK3B glycogen synthase kinase 3 beta 0.143543
FGF6 fibroblast growth factor 6 0.143529
GPR162 G protein-coupled receptor 162 0.143525
FOXA2 forkhead box A2 0.143421
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) 0.143351
RXRA retinoid X receptor, alpha 0.143347
RPS17 ribosomal protein S17 0.143347
PPT1 palmitoyl-protein thioesterase 1 0.143271
SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 0.143243
GRP gastrin-releasing peptide 0.143218
PORCN porcupine homolog (Drosophila) 0.14321
SIN3A SIN3 transcription regulator family member A 0.143202
GJA1 gap junction protein, alpha 1, 43kDa 0.143168
GPC5 glypican 5 0.143151
IGLV9-49 immunoglobulin lambda variable 9-49 0.143095
LBR lamin B receptor 0.143065
CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) 0.143038
TRH thyrotropin-releasing hormone 0.142911
RARS arginyl-tRNA synthetase 0.142864
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 0.142835
FZD2 frizzled class receptor 2 0.142738
FGFR2 fibroblast growth factor receptor 2 0.142733
OPHN1 oligophrenin 1 0.142642
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 0.142611
RARG retinoic acid receptor, gamma 0.142544
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.142512
TGFB1 transforming growth factor, beta 1 0.142453
AFP alpha-fetoprotein 0.142442
RARB retinoic acid receptor, beta 0.14237
COL9A1 collagen, type IX, alpha 1 0.142353
PIGN phosphatidylinositol glycan anchor biosynthesis, class N 0.142331
MEF2A myocyte enhancer factor 2A 0.142319
AATF apoptosis antagonizing transcription factor 0.142139
RBP2 retinol binding protein 2, cellular 0.142097
RAET1E retinoic acid early transcript 1E 0.142097
SUMO2 small ubiquitin-like modifier 2 0.142079
COL4A2 collagen, type IV, alpha 2 0.141924
CPEB1 cytoplasmic polyadenylation element binding protein 1 0.141912
SPRED1 sprouty-related, EVH1 domain containing 1 0.141821
PRKCZ protein kinase C, zeta 0.141769
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 0.141689
SCO2 SCO2 cytochrome c oxidase assembly protein 0.141641
TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 0.141524
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 0.141517
RGS5 regulator of G-protein signaling 5 0.141502
PER1 period circadian clock 1 0.141481
DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 0.14146
VEGFA vascular endothelial growth factor A 0.141402
DBN1 drebrin 1 0.141307
IGF1 insulin-like growth factor 1 (somatomedin C) 0.141247
PPCS phosphopantothenoylcysteine synthetase 0.14124
CFAP74 cilia and flagella associated protein 74 0.141133
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 0.141102
ACACA acetyl-CoA carboxylase alpha 0.14078
SLC22A18 solute carrier family 22, member 18 0.140747
HOXA5 homeobox A5 0.140713
ZIC2 Zic family member 2 0.140704
FOXD3 forkhead box D3 0.140532
CRABP1 cellular retinoic acid binding protein 1 0.140505
MMP2 matrix metallopeptidase 2 0.140443
GREM1 gremlin 1, DAN family BMP antagonist 0.140416
EYA1 EYA transcriptional coactivator and phosphatase 1 0.140288
ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 0.140186
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 0.140081
CLCN3 chloride channel, voltage-sensitive 3 0.140081
COL2A1 collagen, type II, alpha 1 0.140013
CALCA calcitonin-related polypeptide alpha 0.139994
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 0.139764
NRXN1 neurexin 1 0.139534
KLF5 Kruppel-like factor 5 (intestinal) 0.139449
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 0.139405
MYOG myogenin (myogenic factor 4) 0.139284
RBMS1 RNA binding motif, single stranded interacting protein 1 0.139228
IGLL5 immunoglobulin lambda-like polypeptide 5 0.139183
GPC3 glypican 3 0.13916
ERAS ES cell expressed Ras 0.139138
EGLN3 egl-9 family hypoxia-inducible factor 3 0.138941
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 0.138822
APLNR apelin receptor 0.138761
MYEF2 myelin expression factor 2 0.138712
TIMP2 TIMP metallopeptidase inhibitor 2 0.138688
IGF2 insulin-like growth factor 2 0.138576
PAX6 paired box 6 0.138412
HYLS1 hydrolethalus syndrome 1 0.138412
FDFT1 farnesyl-diphosphate farnesyltransferase 1 0.138399
HOXA10 homeobox A10 0.138243
REXO1L1P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1, pseudogene 0.137919
RGMA repulsive guidance molecule family member a 0.137905
PIDD1 p53-induced death domain protein 1 0.137835
COL11A1 collagen, type XI, alpha 1 0.137807
ASPN asporin 0.137793
MYF5 myogenic factor 5 0.137751
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 0.137708
WHSC1 Wolf-Hirschhorn syndrome candidate 1 0.137386
PER2 period circadian clock 2 0.137296
COL4A1 collagen, type IV, alpha 1 0.137265
PRIMA1 proline rich membrane anchor 1 0.13708
JMJD6 jumonji domain containing 6 0.137002
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 0.136939
TIMP3 TIMP metallopeptidase inhibitor 3 0.136794
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 0.136778
MEGF6 multiple EGF-like-domains 6 0.136547
NPR1 natriuretic peptide receptor 1 0.136531
NOVA2 neuro-oncological ventral antigen 2 0.136514
GUCY2C guanylate cyclase 2C 0.136497
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 0.136327
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 0.136292
SIX1 SIX homeobox 1 0.135736
NGFR nerve growth factor receptor 0.135642
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.135605
MMP9 matrix metallopeptidase 9 0.135336
TIMP4 TIMP metallopeptidase inhibitor 4 0.135139
PROX1 prospero homeobox 1 0.135098
TGFB2 transforming growth factor, beta 2 0.134997
NPPA natriuretic peptide A 0.134792
MEF2C myocyte enhancer factor 2C 0.134602
BMPR1A bone morphogenetic protein receptor, type IA 0.134602
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.134602
ADM adrenomedullin 0.134581
PITX1 paired-like homeodomain 1 0.134365