hereditary hemorrhagic telangiectasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (Human Disease Ontology, DOID_1270)
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Genes

92 genes co-occuring with the disease hereditary hemorrhagic telangiectasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ACVRL1 activin A receptor type II-like 1 3.46554
ENG endoglin 2.71403
GDF2 growth differentiation factor 2 2.12765
SMAD4 SMAD family member 4 1.78038
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 1.71773
TGFB1 transforming growth factor, beta 1 1.67548
BMP10 bone morphogenetic protein 10 1.37207
TGFBR1 transforming growth factor, beta receptor 1 1.34592
BMPR1A bone morphogenetic protein receptor, type IA 1.17507
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 1.07488
TMEM100 transmembrane protein 100 1.03325
RASA1 RAS p21 protein activator (GTPase activating protein) 1 1.02861
ACVR2A activin A receptor, type IIA 0.967921
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 0.881882
EGFLAM EGF-like, fibronectin type III and laminin G domains 0.881882
PTP4A2 protein tyrosine phosphatase type IVA, member 2 0.879014
TCTEX1D4 Tctex1 domain containing 4 0.846669
SMAD2 SMAD family member 2 0.788033
ZYX zyxin 0.787213
ERBB2IP erbb2 interacting protein 0.785574
COL5A1 collagen, type V, alpha 1 0.755342
SMAD6 SMAD family member 6 0.736649
TEAD4 TEA domain family member 4 0.724098
NOS3 nitric oxide synthase 3 (endothelial cell) 0.72127
GLMN glomulin, FKBP associated protein 0.714408
SMAD5 SMAD family member 5 0.694301
FYN FYN proto-oncogene, Src family tyrosine kinase 0.675909
SMAD3 SMAD family member 3 0.672324
KCNK3 potassium channel, two pore domain subfamily K, member 3 0.646953
ALK anaplastic lymphoma receptor tyrosine kinase 0.633169
ZNF79 zinc finger protein 79 0.593285
EFNB2 ephrin-B2 0.569552
TGFB3 transforming growth factor, beta 3 0.550134
TOR1A torsin family 1, member A (torsin A) 0.531154
NR1H2 nuclear receptor subfamily 1, group H, member 2 0.519575
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 0.51534
NBPF1 neuroblastoma breakpoint family, member 1 0.482084
CCM2 cerebral cavernous malformation 2 0.470332
LTBP1 latent transforming growth factor beta binding protein 1 0.463527
KRT84 keratin 84, type II 0.448064
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 0.444676
KRIT1 KRIT1, ankyrin repeat containing 0.44129
ITGA1 integrin, alpha 1 0.430017
SPTAN1 spectrin, alpha, non-erythrocytic 1 0.403438
ESM1 endothelial cell-specific molecule 1 0.393746
VEGFA vascular endothelial growth factor A 0.388166
STXBP1 syntaxin binding protein 1 0.385193
PTPRJ protein tyrosine phosphatase, receptor type, J 0.384451
RHOA ras homolog family member A 0.38111
TGFBR3 transforming growth factor, beta receptor III 0.377031
SRRM1 serine/arginine repetitive matrix 1 0.376661
ITGB8 integrin, beta 8 0.37629
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.365562
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 0.365193
ITGB6 integrin, beta 6 0.351555
IFITM1 interferon induced transmembrane protein 1 0.347511
ITGB7 integrin, beta 7 0.341272
SMAD7 SMAD family member 7 0.338707
ACVR1 activin A receptor, type I 0.334315
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 0.332121
IL1RL1 interleukin 1 receptor-like 1 0.32701
PDIA3 protein disulfide isomerase family A, member 3 0.326646
PEG10 paternally expressed 10 0.324458
CLNK cytokine-dependent hematopoietic cell linker 0.320817
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 0.316456
JAG1 jagged 1 0.307757
TREX1 three prime repair exonuclease 1 0.290821
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 0.289027
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.288668
ANGPT2 angiopoietin 2 0.285802
TGFB2 transforming growth factor, beta 2 0.285444
FBN1 fibrillin 1 0.284013
EFNA1 ephrin-A1 0.264785
GJA4 gap junction protein, alpha 4, 37kDa 0.256652
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 0.253127
VWF von Willebrand factor 0.25207
ICAM2 intercellular adhesion molecule 2 0.251718
DYNLT1 dynein, light chain, Tctex-type 1 0.249257
CRK v-crk avian sarcoma virus CT10 oncogene homolog 0.242945
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 0.241895
CDK9 cyclin-dependent kinase 9 0.231102
EPHB4 EPH receptor B4 0.216332
FGF10 fibroblast growth factor 10 0.206913
PROX1 prospero homeobox 1 0.200006
F8 coagulation factor VIII, procoagulant component 0.194548
ITGB4 integrin, beta 4 0.190168
MIR210 microRNA 210 0.185313
GDF5 growth differentiation factor 5 0.181222
NCR3 natural cytotoxicity triggering receptor 3 0.175411
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 0.163729
JUP junction plakoglobin 0.162908
THBD thrombomodulin 0.161716