CADASIL Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

293 genes co-occuring with the disease CADASIL in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
NOTCH3 notch 3 4.0
COL4A1 collagen, type IV, alpha 1 2.975
JAG1 jagged 1 2.699
EGF epidermal growth factor 2.644
COL4A2 collagen, type IV, alpha 2 2.597
RBPJ recombination signal binding protein for immunoglobulin kappa J region 2.587
HTRA1 HtrA serine peptidase 1 2.572
NOTCH4 notch 4 2.512
NOTCH2 notch 2 2.498
SRRT serrate, RNA effector molecule 2.403
DLL4 delta-like 4 (Drosophila) 2.394
DLL1 delta-like 1 (Drosophila) 2.367
APP amyloid beta (A4) precursor protein 2.314
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 2.312
CTSA cathepsin A 2.304
APOE apolipoprotein E 2.283
JAG2 jagged 2 2.278
NOTCH1 notch 1 2.255
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2.141
PSEN1 presenilin 1 2.119
DLL3 delta-like 3 (Drosophila) 2.105
TIMP3 TIMP metallopeptidase inhibitor 3 2.081
MAML2 mastermind-like 2 (Drosophila) 2.077
HEYL hes-related family bHLH transcription factor with YRPW motif-like 2.076
PSEN2 presenilin 2 2.075
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 2.073
PDGFRB platelet-derived growth factor receptor, beta polypeptide 2.035
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 2.035
MAML1 mastermind-like 1 (Drosophila) 2.032
MAML3 mastermind-like 3 (Drosophila) 2.026
HEY2 hes-related family bHLH transcription factor with YRPW motif 2 2.017
VTN vitronectin 2.014
LTBP1 latent transforming growth factor beta binding protein 1 2.01
KCNK18 potassium channel, two pore domain subfamily K, member 18 2.0
SCN1A sodium channel, voltage gated, type I alpha subunit 1.968
CSF1R colony stimulating factor 1 receptor 1.95
TAGLN transgelin 1.939
TREX1 three prime repair exonuclease 1 1.914
NEFL neurofilament, light polypeptide 1.898
AARS2 alanyl-tRNA synthetase 2, mitochondrial 1.887
GLA galactosidase, alpha 1.872
RNF213 ring finger protein 213 1.862
CLU clusterin 1.829
TRIM47 tripartite motif containing 47 1.823
HES5 hes family bHLH transcription factor 5 1.818
TRIM65 tripartite motif containing 65 1.801
SORL1 sortilin-related receptor, L(DLR class) A repeats containing 1.8
ITM2B integral membrane protein 2B 1.796
SMTN smoothelin 1.778
NOTCH2NLC notch 2 N-terminal like C 1.771
KRIT1 KRIT1, ankyrin repeat containing 1.763
NOTCH2NLA notch 2 N-terminal like A 1.757
PDGFB platelet-derived growth factor beta polypeptide 1.754
MAPT microtubule-associated protein tau 1.748
TGFB1 transforming growth factor, beta 1 1.745
ADAM17 ADAM metallopeptidase domain 17 1.744
VWF von Willebrand factor 1.743
GNLY granulysin 1.732
PITX2 paired-like homeodomain 2 1.717
NRIP2 nuclear receptor interacting protein 2 1.708
FOXC1 forkhead box C1 1.7
PRRT2 proline-rich transmembrane protein 2 1.689
TREM2 triggering receptor expressed on myeloid cells 2 1.688
TSPAN2 tetraspanin 2 1.686
ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 1.669
PHACTR1 phosphatase and actin regulator 1 1.667
ACTA2 actin, alpha 2, smooth muscle, aorta 1.666
PMF1-BGLAP PMF1-BGLAP readthrough 1.66
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1.653
MRPL38 mitochondrial ribosomal protein L38 1.652
NCSTN nicastrin 1.649
ZFHX3 zinc finger homeobox 3 1.641
PDE4D phosphodiesterase 4D, cAMP-specific 1.632
COLGALT1 collagen beta(1-O)galactosyltransferase 1 1.63
PLAT plasminogen activator, tissue 1.629
FOXF2 forkhead box F2 1.621
CSNK1D casein kinase 1, delta 1.616
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.613
ARSA arylsulfatase A 1.61
EGFR epidermal growth factor receptor 1.597
CCM2 cerebral cavernous malformation 2 1.589
GFAP glial fibrillary acidic protein 1.583
MFSD2A major facilitator superfamily domain containing 2A 1.582
MYH11 myosin, heavy chain 11, smooth muscle 1.561
ADAM10 ADAM metallopeptidase domain 10 1.554
FAM124A family with sequence similarity 124A 1.552
PRNP prion protein 1.54
TARDBP TAR DNA binding protein 1.539
ACE angiotensin I converting enzyme 1.537
FBN1 fibrillin 1 1.534
FURIN furin (paired basic amino acid cleaving enzyme) 1.534
C9ORF72 chromosome 9 open reading frame 72 1.53
PMF1 polyamine-modulated factor 1 1.526
SNCA synuclein, alpha (non A4 component of amyloid precursor) 1.521
WBP2 WW domain binding protein 2 1.52
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 1.518
TM2D3 TM2 domain containing 3 1.511
TEX261 testis expressed 261 1.509
FBF1 Fas (TNFRSF6) binding factor 1 1.509
CDH5 cadherin 5, type 2 (vascular endothelium) 1.501
PICALM phosphatidylinositol binding clathrin assembly protein 1.501
EDN1 endothelin 1 1.499
HBEGF heparin-binding EGF-like growth factor 1.499
NUMB numb homolog (Drosophila) 1.498
NUMBL numb homolog (Drosophila)-like 1.495
POFUT1 protein O-fucosyltransferase 1 1.494
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 1.491
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 1.49
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1.484
CNN1 calponin 1, basic, smooth muscle 1.484
CLDN5 claudin 5 1.483
ELN elastin 1.482
NRARP NOTCH-regulated ankyrin repeat protein 1.482
PDCD10 programmed cell death 10 1.471
CHMP2B charged multivesicular body protein 2B 1.469
BCHE butyrylcholinesterase 1.467
TEK TEK tyrosine kinase, endothelial 1.46
GRIP2 glutamate receptor interacting protein 2 1.451
EFNB2 ephrin-B2 1.442
CST3 cystatin C 1.439
NOS3 nitric oxide synthase 3 (endothelial cell) 1.434
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 1.433
MBP myelin basic protein 1.431
MYOCD myocardin 1.429
APH1A APH1A gamma secretase subunit 1.42
ZCCHC14 zinc finger, CCHC domain containing 14 1.418
PSENEN presenilin enhancer gamma secretase subunit 1.41
EPHB4 EPH receptor B4 1.405
NINJ2 ninjurin 2 1.404
MMP9 matrix metallopeptidase 9 1.396
COL3A1 collagen, type III, alpha 1 1.394
KITLG KIT ligand 1.393
ACHE acetylcholinesterase (Yt blood group) 1.388
PRKCH protein kinase C, eta 1.385
MOG myelin oligodendrocyte glycoprotein 1.383
APCS amyloid P component, serum 1.38
PLP1 proteolipid protein 1 1.379
VCP valosin containing protein 1.372
LAMA2 laminin, alpha 2 1.371
SLC25A44 solute carrier family 25, member 44 1.369
ACVRL1 activin A receptor type II-like 1 1.366
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase 1.362
ALB albumin 1.361
ASTN2 astrotactin 2 1.36
MYH14 myosin, heavy chain 14, non-muscle 1.357
COL18A1 collagen, type XVIII, alpha 1 1.353
FN1 fibronectin 1 1.346
THSD1 thrombospondin, type I, domain containing 1 1.345
PECAM1 platelet/endothelial cell adhesion molecule 1 1.343
FOXC2 forkhead box C2 1.343
TYROBP TYRO protein tyrosine kinase binding protein 1.334
IL6 interleukin 6 1.32
GFM1 G elongation factor, mitochondrial 1 1.32
POLG polymerase (DNA directed), gamma 1.313
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1.31
CSPG4 chondroitin sulfate proteoglycan 4 1.307
ICAM1 intercellular adhesion molecule 1 1.307
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 1.3
ADA2 adenosine deaminase 2 1.3
OCLN occludin 1.297
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 1.29
APH1B APH1B gamma secretase subunit 1.288
REN renin 1.283
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1.281
FUS FUS RNA binding protein 1.278
RHOA ras homolog family member A 1.273
IL1B interleukin 1, beta 1.268
AIF1 allograft inflammatory factor 1 1.267
GALC galactosylceramidase 1.264
PRSS1 protease, serine, 1 (trypsin 1) 1.257
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 1.254
GRN granulin 1.253
THBD thrombomodulin 1.247
SLC20A2 solute carrier family 20 (phosphate transporter), member 2 1.244
BDNF brain-derived neurotrophic factor 1.243
SUSD5 sushi domain containing 5 1.242
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.242
POGLUT1 protein O-glucosyltransferase 1 1.236
CRP C-reactive protein, pentraxin-related 1.232
SUGCT succinyl-CoA:glutarate-CoA transferase 1.23
SH3PXD2A SH3 and PX domains 2A 1.225
OLFML3 olfactomedin-like 3 1.223
SPAST spastin 1.221
ADGRL2 adhesion G protein-coupled receptor L2 1.219
SMAD9 SMAD family member 9 1.217
KDR kinase insert domain receptor 1.214
BACE1 beta-site APP-cleaving enzyme 1 1.207
GSN gelsolin 1.203
ANK1 ankyrin 1, erythrocytic 1.201
HBB hemoglobin, beta 1.199
TJP1 tight junction protein 1 1.194
TNF tumor necrosis factor 1.191
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 1.19
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 1.184
ANGPT1 angiopoietin 1 1.18
SOD1 superoxide dismutase 1, soluble 1.179
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 1.178
NBEAL1 neurobeachin-like 1 1.178
EPHA1 EPH receptor A1 1.176
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1.175
SRF serum response factor (c-fos serum response element-binding transcription factor) 1.173
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 1.173
BGN biglycan 1.165
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.165
LRP1 low density lipoprotein receptor-related protein 1 1.159
GLMN glomulin, FKBP associated protein 1.156
LAMB1 laminin, beta 1 1.155
ANGPT2 angiopoietin 2 1.155
ADM adrenomedullin 1.144
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.143
NOX5 NADPH oxidase, EF-hand calcium binding domain 5 1.14
CSF3 colony stimulating factor 3 (granulocyte) 1.138
TRIM8 tripartite motif containing 8 1.137
F2 coagulation factor II (thrombin) 1.136
GALNT11 polypeptide N-acetylgalactosaminyltransferase 11 1.133
ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 1.132
SHH sonic hedgehog 1.131
IL34 interleukin 34 1.126
PLD3 phospholipase D family, member 3 1.124
UFL1 UFM1-specific ligase 1 1.124
PON1 paraoxonase 1 1.122
CFLAR CASP8 and FADD-like apoptosis regulator 1.121
BIN1 bridging integrator 1 1.117
GJA4 gap junction protein, alpha 4, 37kDa 1.117
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 1.111
ENG endoglin 1.107
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 1.105
FGA fibrinogen alpha chain 1.103
AGER advanced glycosylation end product-specific receptor 1.101
HSPG2 heparan sulfate proteoglycan 2 1.1
RIN3 Ras and Rab interactor 3 1.099
VCAM1 vascular cell adhesion molecule 1 1.097
ALOX5AP arachidonate 5-lipoxygenase-activating protein 1.097
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.096
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 1.095
NEURL1 neuralized E3 ubiquitin protein ligase 1 1.095
GDF2 growth differentiation factor 2 1.094
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.09
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.088
MFAP5 microfibrillar associated protein 5 1.088
SOX17 SRY (sex determining region Y)-box 17 1.085
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 1.085
FGF2 fibroblast growth factor 2 (basic) 1.084
TMEM106B transmembrane protein 106B 1.081
PLG plasminogen 1.081
RIPPLY2 ripply transcriptional repressor 2 1.08
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 1.071
MMEL1 membrane metallo-endopeptidase-like 1 1.071
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 1.064
SQSTM1 sequestosome 1 1.064
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 1.064
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.062
CPQ carboxypeptidase Q 1.061
TRPV4 transient receptor potential cation channel, subfamily V, member 4 1.06
HTR1F 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 1.059
KCNA3 potassium channel, voltage gated shaker related subfamily A, member 3 1.059
ZNF566 zinc finger protein 566 1.058
POSTN periostin, osteoblast specific factor 1.055
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8 1.055
VCAN versican 1.053
JPH3 junctophilin 3 1.053
HES1 hes family bHLH transcription factor 1 1.05
ZNF830 zinc finger protein 830 1.049
GXYLT1 glucoside xylosyltransferase 1 1.047
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.046
HTT huntingtin 1.044
DNER delta/notch-like EGF repeat containing 1.044
SYNGAP1 synaptic Ras GTPase activating protein 1 1.042
MMP2 matrix metallopeptidase 2 1.04
TGFBR1 transforming growth factor, beta receptor 1 1.038
CLEC14A C-type lectin domain family 14, member A 1.036
DLK1 delta-like 1 homolog (Drosophila) 1.031
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 1.031
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 1.03
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 1.029
MFAP2 microfibrillar-associated protein 2 1.027
S100B S100 calcium binding protein B 1.027
EYS eyes shut homolog (Drosophila) 1.026
TMEM11 transmembrane protein 11 1.025
TTR transthyretin 1.019
CD68 CD68 molecule 1.017
MTFR1 mitochondrial fission regulator 1 1.015
TIMP1 TIMP metallopeptidase inhibitor 1 1.015
MPPED2 metallophosphoesterase domain containing 2 1.014
NES nestin 1.014
HES6 hes family bHLH transcription factor 6 1.009
HDAC9 histone deacetylase 9 1.008
SELP selectin P (granule membrane protein 140kDa, antigen CD62) 1.006
ICA1L islet cell autoantigen 1,69kDa-like 1.006
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 1.005
CALCA calcitonin-related polypeptide alpha 1.005
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 1.004
HES3 hes family bHLH transcription factor 3 1.001