EV-associated targets with known aptamers

EV-Map circulating-EV proteins that also have known aptamer evidence.

Custom SQL query returning 843 rows (hide) 

SELECT id, gene_symbol, protein_name, in_cev_map, aptamer_count_pubmed, opentargets_top_disease_name, priority_score FROM v_targets WHERE has_known_aptamer=1 AND in_cev_map=1 ORDER BY priority_score DESC

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idgene_symbolprotein_namein_cev_mapaptamer_count_pubmedopentargets_top_disease_namepriority_score
P25445 FAS Tumor necrosis factor receptor superfamily member 6 1 17 autoimmune lymphoproliferative syndrome type 1 0.914
P13747 HLA-E HLA class I histocompatibility antigen, alpha chain E 1 1 COVID-19 0.865
O75581 LRP6 Low-density lipoprotein receptor-related protein 6 1 5 tooth agenesis, selective, 7 0.865
Q15848 ADIPOQ Adiponectin 1 10 hearing loss 0.806
P51679 CCR4 C-C chemokine receptor type 4 1 3 mycosis fungoides 0.804
P15260 IFNGR1 Interferon gamma receptor 1 1 2 disseminated atypical mycobacterial infection 0.804
P02748 C9 Complement component C9 1 10 Immunodeficiency due to a late component of complements deficiency 0.796
P13671 C6 Complement component C6 1 31 Immunodeficiency due to a late component of complements deficiency 0.795
Q13085 ACACA Acetyl-CoA carboxylase 1 1 1   0.79
P36888 FLT3 Receptor-type tyrosine-protein kinase FLT3 1 6 acute myeloid leukemia 0.788
P04156 PRNP Major prion protein 1 2 Gerstmann-Straussler-Scheinker syndrome 0.785
Q92633 LPAR1 Lysophosphatidic acid receptor 1 1 1 Epiretinal membrane 0.785
P14210 HGF Hepatocyte growth factor 1 64 hearing loss, autosomal recessive 0.78
P01019 AGT Angiotensinogen 1 16 renal tubular dysgenesis 0.779
P04839 CYBB NADPH oxidase 2 1 2 chronic granulomatous disease 0.776
P61769 B2M Beta-2-microglobulin 1 15 Immunodeficiency by defective expression of HLA class 1 0.77
P02776 PF4 Platelet factor 4 1 10 systemic scleroderma 0.77
P39060 COL18A1 Collagen alpha-1(XVIII) chain 1 2 Knobloch syndrome 1 0.769
P01189 POMC Pro-opiomelanocortin 1 1 obesity due to pro-opiomelanocortin deficiency 0.76
P05546 SERPIND1 Heparin cofactor 2 1 4 heparin cofactor 2 deficiency 0.752
P43007 SLC1A4 Neutral amino acid transporter A 1 6 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0.75
P08648 ITGA5 Integrin alpha-5 1 2 skin disease 0.748
P05164 MPO Myeloperoxidase 1 16 myeloperoxidase deficiency 0.745
P15144 ANPEP Aminopeptidase N 1 1 cholelithiasis 0.74
P0C0L4 C4A Complement C4-A 1 4   0.74
Q03405 PLAUR Urokinase plasminogen activator surface receptor 1 2 Abdominal Aortic Aneurysm 0.738
O60884 DNAJA2 DnaJ homolog subfamily A member 2 1 2 dengue disease 0.73
P05187 ALPP Alkaline phosphatase, placental type 1 7 male reproductive organ cancer 0.72
P29622 SERPINA4 Kallistatin 1 4 optic atrophy 0.719
Q99988 GDF15 Growth/differentiation factor 15 1 29 hyperemesis gravidarum 0.718
P05106 ITGB3 Integrin beta-3 1 2 Glanzmann thrombasthenia 1 0.715
P41221 WNT5A Protein Wnt-5a 1 4 Robinow syndrome 0.71
Q96IY4 CPB2 Carboxypeptidase B2 1 4 type 2 diabetes mellitus 0.709
P13987 CD59 CD59 glycoprotein 1 1 primary CD59 deficiency 0.705
P25311 AZGP1 Zinc-alpha-2-glycoprotein 1 1 neoplasm 0.701
Q12884 FAP Prolyl endopeptidase FAP 1 7 psoriasis 0.7
P07225 PROS1 Vitamin K-dependent protein S 1 2 thrombophilia due to protein S deficiency, autosomal dominant 0.7
P00746 CFD Complement factor D 1 4 recurrent Neisseria infections due to factor D deficiency 0.695
P00738 HP Haptoglobin 1 76 Hypercholesterolemia 0.695
P19021 PAM Peptidyl-glycine alpha-amidating monooxygenase 1 25 type 2 diabetes mellitus 0.695
P21359 NF1 Neurofibromin 1 2 neurofibromatosis type 1 0.695
O95858 TSPAN15 Tetraspanin-15 1 1 venous thromboembolism 0.692
P00451 F8 Coagulation factor VIII 1 13 hemophilia A 0.691
P10586 PTPRF Receptor-type tyrosine-protein phosphatase F 1 4 smoking initiation 0.69
P50148 GNAQ Guanine nucleotide-binding protein G(q) subunit alpha 1 1 Sturge-Weber syndrome 0.685
P22303 ACHE Acetylcholinesterase 1 135 Alzheimer disease 0.685
P03950 ANG Angiogenin 1 99 amyotrophic lateral sclerosis 0.685
P01008 SERPINC1 Antithrombin-III 1 11 hereditary antithrombin deficiency 0.685
O00501 CLDN5 Claudin-5 1 1 genetic disorder 0.685
Q15485 FCN2 Ficolin-2 1 2 hypopituitarism 0.682
Q07954 LRP1 Prolow-density lipoprotein receptor-related protein 1 1 3 developmental dysplasia of the hip 0.682
P00918 CA2 Carbonic anhydrase 2 1 109 Osteopetrosis with renal tubular acidosis 0.68
P13501 CCL5 C-C motif chemokine 5 1 6 neoplasm 0.68
P09958 FURIN Furin 1 4 coronary artery disease 0.68
P61073 CXCR4 C-X-C chemokine receptor type 4 1 17 WHIM syndrome 0.68
P12259 F5 Coagulation factor V 1 4 thrombophilia due to activated protein C resistance 0.68
P14384 CPM Carboxypeptidase M 1 3 hydronephrosis 0.68
P09382 LGALS1 Galectin-1 1 6 glaucoma 0.675
P49913 CAMP Cathelicidin antimicrobial peptide 1 30 prostate carcinoma 0.675
P09758 TACSTD2 Tumor-associated calcium signal transducer 2 1 4 gelatinous drop-like corneal dystrophy 0.673
P98066 TNFAIP6 Tumor necrosis factor-inducible gene 6 protein 1 1 type 2 diabetes mellitus 0.671
P25942 CD40 Tumor necrosis factor receptor superfamily member 5 1 8 hyper-IgM syndrome type 3 0.67
P08581 MET Hepatocyte growth factor receptor 1 149 papillary renal cell carcinoma 0.669
P56817 BACE1 Beta-secretase 1 1 9 metabolic disease 0.668
P08311 CTSG Cathepsin G 1 6 tuberculosis 0.667
P01137 TGFB1 Transforming growth factor beta-1 proprotein 1 4 Camurati-Engelmann disease 0.665
Q9Y251 HPSE Heparanase 1 7 Vitiligo 0.66
Q13093 PLA2G7 Platelet-activating factor acetylhydrolase 1 1 Platelet-activating factor acetylhydrolase deficiency 0.66
P15151 PVR Poliovirus receptor 1 3 Alzheimer disease 0.66
P16870 CPE Carboxypeptidase E 1 16 BDV syndrome 0.66
P98155 VLDLR Very low-density lipoprotein receptor 1 1 Dysequilibrium syndrome 0.66
P22692 IGFBP4 Insulin-like growth factor-binding protein 4 1 6 allergic rhinitis 0.66
Q13433 SLC39A6 Zinc transporter ZIP6 1 1 breast cancer 0.66
P03952 KLKB1 Plasma kallikrein 1 6 inherited prekallikrein deficiency 0.656
P02461 COL3A1 Collagen alpha-1(III) chain 1 1 Ehlers-Danlos syndrome, vascular type 0.656
P15907 ST6GAL1 Beta-galactoside alpha-2,6-sialyltransferase 1 1 1 COVID-19 0.655
P08709 F7 Coagulation factor VII 1 4 factor VII deficiency 0.655
Q9Y625 GPC6 Glypican-6 1 1 autosomal recessive omodysplasia 0.655
P02766 TTR Transthyretin 1 11 amyloidosis, hereditary systemic 1 0.655
P37173 TGFBR2 TGF-beta receptor type-2 1 8 Loeys-Dietz syndrome 0.654
Q9H0R3 TMEM222 Transmembrane protein 222 1 3 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 0.654
P36894 BMPR1A Bone morphogenetic protein receptor type-1A 1 1 juvenile polyposis syndrome 0.653
P02724 GYPA Glycophorin-A 1 1 malaria 0.653
P62937 PPIA Peptidyl-prolyl cis-trans isomerase A 1 1 HIV infection 0.652
P60033 CD81 CD81 antigen 1 5 immunodeficiency, common variable, 6 0.652
P46531 NOTCH1 Neurogenic locus notch homolog protein 1 1 4 Adams-Oliver syndrome 0.652
P16234 PDGFRA Platelet-derived growth factor receptor alpha 1 4 gastrointestinal stromal tumor 0.652
P32942 ICAM3 Intercellular adhesion molecule 3 1 3 lymphatic system disease 0.648
P09104 ENO2 Gamma-enolase 1 1 neurodegenerative disease 0.645
P07237 P4HB Protein disulfide-isomerase 1 2 Cole-Carpenter syndrome 0.644
P29323 EPHB2 Ephrin type-B receptor 2 1 1 medullary thyroid gland carcinoma 0.643
P01344 IGF2 Insulin-like growth factor 2 1 13 Silver-Russell syndrome 0.643
P48740 MASP1 Mannan-binding lectin serine protease 1 1 2 3MC syndrome 1 0.64
Q14242 SELPLG P-selectin glycoprotein ligand 1 1 1 glaucoma 0.64
P06702 S100A9 Protein S100-A9 1 9 inborn error of immunity 0.637
P08519 LPA Apolipoprotein(a) 1 8 cardiovascular disease 0.637
P05109 S100A8 Protein S100-A8 1 5 inborn error of immunity 0.635
P01732 CD8A T-cell surface glycoprotein CD8 alpha chain 1 2 progressive supranuclear palsy 0.635
P01009 SERPINA1 Alpha-1-antitrypsin 1 12 Alpha-1-antitrypsin deficiency 0.631
P02647 APOA1 Apolipoprotein A-I 1 10 hypoalphalipoproteinemia, primary, 2 0.63
P50281 MMP14 Matrix metalloproteinase-14 1 10 Torg-Winchester syndrome 0.63
P02788 LTF Lactotransferrin 1 3 tuberculosis 0.625
P51884 LUM Lumican 1 7 lumbar disc herniation 0.625
O75976 CPD Carboxypeptidase D 1 1 neurodegenerative disease 0.625
P49862 KLK7 Kallikrein-7 1 1 neurodegenerative disease 0.624
P21926 CD9 CD9 antigen 1 17 diphtheria 0.623
P21796 VDAC1 Non-selective voltage-gated ion channel VDAC1 1 1 neurodegenerative disease 0.621
Q9UNQ0 ABCG2 Broad substrate specificity ATP-binding cassette transporter ABCG2 1 8 gout 0.62
P01860 IGHG3 Immunoglobulin heavy constant gamma 3 1 1   0.62
P00749 PLAU Urokinase-type plasminogen activator 1 15 Quebec platelet disorder 0.62
P16671 CD36 Platelet glycoprotein 4 1 6 platelet-type bleeding disorder 10 0.62
P11279 LAMP1 Lysosome-associated membrane glycoprotein 1 1 1 thrombophilia 0.619
Q14623 IHH Indian hedgehog protein 1 1 brachydactyly type A1 0.619
O14786 NRP1 Neuropilin-1 1 10 COVID-19 0.619
Q9ULC3 RAB23 Ras-related protein Rab-23 1 1 RAB23-related Carpenter syndrome 0.619
P10451 SPP1 Osteopontin 1 62 osteoporosis 0.615
P01876 IGHA1 Immunoglobulin heavy constant alpha 1 1 2 IGA glomerulonephritis 0.612
P02774 GC Vitamin D-binding protein 1 295 vitamin D deficiency 0.61
P17693 HLA-G HLA class I histocompatibility antigen, alpha chain G 1 2 COVID-19 0.61
P01871 IGHM Immunoglobulin heavy constant mu 1 3 agammaglobulinemia 0.61
P01011 SERPINA3 Alpha-1-antichymotrypsin 1 4 prostate carcinoma 0.61
P13612 ITGA4 Integrin alpha-4 1 3 Crohn's disease 0.61
P00740 F9 Coagulation factor IX 1 8 hemophilia B 0.61
O43866 CD5L CD5 antigen-like 1 3 functional neutrophil defect 0.61
O75487 GPC4 Glypican-4 1 1 Keipert syndrome 0.61
P23368 ME2 NAD-dependent malic enzyme, mitochondrial 1 2 diabetes mellitus 0.61
Q12891 HYAL2 Hyaluronidase-2 1 1 Muggenthaler-Chowdhury-Chioza syndrome 0.61
P31025 LCN1 Lipocalin-1 1 6 cervical carcinoma 0.609
P00450 CP Ceruloplasmin 1 130 aceruloplasminemia 0.608
P05362 ICAM1 Intercellular adhesion molecule 1 1 43 neurodegenerative disease 0.608
P15529 CD46 Membrane cofactor protein 1 9 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0.608
P55157 MTTP Microsomal triglyceride transfer protein large subunit 1 1 abetalipoproteinemia 0.608
O75508 CLDN11 Claudin-11 1 1 leukodystrophy, hypomyelinating, 22 0.608
P03956 MMP1 Interstitial collagenase 1 5 acne 0.605
P11166 SLC2A1 Solute carrier family 2, facilitated glucose transporter member 1 1 2 encephalopathy due to GLUT1 deficiency 0.605
P01034 CST3 Cystatin-C 1 13 Hereditary cerebral hemorrhage with amyloidosis 0.605
Q9NZQ7 CD274 Programmed cell death 1 ligand 1 1 67 non-small cell lung carcinoma 0.605
P00736 C1R Complement C1r subcomponent 1 2   0.605
P36897 TGFBR1 TGF-beta receptor type-1 1 1 Loeys-Dietz syndrome 1 0.605
P27918 CFP Properdin 1 18 Properdin deficiency 0.605
P01023 A2M Alpha-2-macroglobulin 1 2 refractive error 0.605
P00742 F10 Coagulation factor X 1 8 factor X deficiency 0.605
P10646 TFPI Tissue factor pathway inhibitor 1 28 hemophilia A 0.605
P10909 CLU Clusterin 1 5 Alzheimer disease 0.605
P01031 C5 Complement C5 1 58 Immunodeficiency due to a late component of complements deficiency 0.605
P18615 NELFE Negative elongation factor E 1 4 HIV infection 0.605
P26006 ITGA3 Integrin alpha-3 1 1 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0.605
P46734 MAP2K3 Dual specificity mitogen-activated protein kinase kinase 3 1 1 neurodegenerative disease 0.605
P11597 CETP Cholesteryl ester transfer protein 1 1 cholesterol-ester transfer protein deficiency 0.602
Q01650 SLC7A5 Large neutral amino acids transporter small subunit 1 1 1 vertebral joint disease 0.602
Q16270 IGFBP7 Insulin-like growth factor-binding protein 7 1 4 familial retinal arterial macroaneurysm 0.602
Q99538 LGMN Legumain 1 2 crush injury 0.6
P01375 TNF Tumor necrosis factor 1 260   0.6
Q13332 PTPRS Receptor-type tyrosine-protein phosphatase S 1 1 atrial fibrillation 0.6
P04626 ERBB2 Receptor tyrosine-protein kinase erbB-2 1 119 non-small cell lung carcinoma 0.6
P46821 MAP1B Microtubule-associated protein 1B 1 5 periventricular nodular heterotopia 9 0.6
P43235 CTSK Cathepsin K 1 3 pycnodysostosis 0.595
P29965 CD40LG CD40 ligand 1 6 hyper-IgM syndrome type 1 0.595
P30046 DDT D-dopachrome decarboxylase 1 20 neurodegenerative disease 0.594
Q7Z3B1 NEGR1 Neuronal growth regulator 1 1 1 intelligence 0.594
P55145 MANF Mesencephalic astrocyte-derived neurotrophic factor 1 1 diabetes, deafness, developmental delay, and short stature syndrome 0.594
P37802 TAGLN2 Transgelin-2 1 3 neurodegenerative disease 0.593
Q15438 CYTH1 Cytohesin-1 1 6 type 2 diabetes mellitus 0.591
P19022 CDH2 Cadherin-2 1 1 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0.59
Q14515 SPARCL1 SPARC-like protein 1 1 2 gout 0.589
P02787 TF Serotransferrin 1 114 atransferrinemia 0.587
P02786 TFRC Transferrin receptor protein 1 1 3 TFRC-related combined immunodeficiency 0.587
P05121 SERPINE1 Plasminogen activator inhibitor 1 1 25 congenital plasminogen activator inhibitor type 1 deficiency 0.585
P31948 STIP1 Stress-induced-phosphoprotein 1 1 7 neurodegenerative disease 0.585
P13497 BMP1 Bone morphogenetic protein 1 1 1 osteogenesis imperfecta 0.585
P02458 COL2A1 Collagen alpha-1(II) chain 1 1 spondyloepiphyseal dysplasia congenita 0.583
Q15796 SMAD2 SMAD family member 2 1 7 Loeys-Dietz syndrome 6 0.583
Q15813 TBCE Tubulin-specific chaperone E 1 1 hypoparathyroidism-retardation-dysmorphism syndrome 0.582
Q13287 NMI N-myc-interactor 1 2 type 2 diabetes mellitus 0.581
P07355 ANXA2 Annexin A2 1 12 neurodegenerative disease 0.58
P28907 CD38 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 1 5 multiple myeloma 0.58
Q9H244 P2RY12 P2Y purinoceptor 12 1 2 platelet-type bleeding disorder 8 0.58
Q13724 MOGS Mannosyl-oligosaccharide glucosidase 1 3 MOGS-congenital disorder of glycosylation 0.58
O95445 APOM Apolipoprotein M 1 10 type 2 diabetes mellitus 0.58
P12036 NEFH Neurofilament heavy polypeptide 1 2 Charcot-Marie-Tooth disease axonal type 2CC 0.579
P43652 AFM Afamin 1 181 Abnormality of the skeletal system 0.575
P11802 CDK4 Cyclin-dependent kinase 4 1 2 melanoma, cutaneous malignant, susceptibility to, 3 0.575
P23508 MCC Colorectal mutant cancer protein 1 3 colon carcinoma 0.575
O15327 INPP4B Inositol polyphosphate 4-phosphatase type II 1 2 neurodegenerative disease 0.574
P24394 IL4R Interleukin-4 receptor subunit alpha 1 3 asthma 0.574
P07550 ADRB2 Beta-2 adrenergic receptor 1 2 asthma 0.573
Q9UPY5 SLC7A11 Cystine/glutamate transporter 1 5 schizophrenia 0.573
P06756 ITGAV Integrin alpha-V 1 8 neurodegenerative disease 0.572
P14174 MIF Macrophage migration inhibitory factor 1 2 rheumatoid arthritis 0.57
O43854 EDIL3 EGF-like repeat and discoidin I-like domain-containing protein 3 1 1 COVID-19 0.57
P00750 PLAT Tissue-type plasminogen activator 1 9 stroke 0.57
P00813 ADA Adenosine deaminase 1 72 Severe combined immunodeficiency due to adenosine deaminase deficiency 0.57
P02654 APOC1 Apolipoprotein C-I 1 4   0.57
P26599 PTBP1 Polypyrimidine tract-binding protein 1 1 2 dengue disease 0.567
P27487 DPP4 Dipeptidyl peptidase 4 1 4 type 2 diabetes mellitus 0.565
P00747 PLG Plasminogen 1 51 hypoplasminogenemia 0.565
P12273 PIP Prolactin-inducible protein 1 7 neurodegenerative disease 0.564
Q07352 ZFP36L1 mRNA decay activator protein ZFP36L1 1 1 neurodegenerative disease 0.564
P30519 HMOX2 Heme oxygenase 2 1 1 neuroinflammatory disorder 0.563
P11274 BCR Breakpoint cluster region protein 1 20 chronic myelogenous leukemia 0.562
P18206 VCL Vinculin 1 4 hypertrophic cardiomyopathy 0.56
Q0VDF9 HSPA14 Heat shock 70 kDa protein 14 1 1 neurodegenerative disease 0.56
Q03393 PTS 6-pyruvoyl tetrahydrobiopterin synthase 1 16   0.56
O75084 FZD7 Frizzled-7 1 2 Abnormality of the skeletal system 0.556
Q92743 HTRA1 Serine protease HTRA1 1 1 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0.556
P12821 ACE Angiotensin-converting enzyme 1 108 diabetic nephropathy 0.555
P08253 MMP2 72 kDa type IV collagenase 1 20 Torg-Winchester syndrome 0.555
P02452 COL1A1 Collagen alpha-1(I) chain 1 3 osteogenesis imperfecta type 2 0.555
Q5ZPR3 CD276 CD276 antigen 1 1 response to statin 0.555
P07947 YES1 Tyrosine-protein kinase Yes 1 1 chronic myelogenous leukemia 0.554
P21589 NT5E 5'-nucleotidase 1 3 hereditary arterial and articular multiple calcification syndrome 0.552
Q29983 MICA MHC class I polypeptide-related sequence A 1 7   0.55
P32119 PRDX2 Peroxiredoxin-2 1 2 neurodegenerative disease 0.55
P02753 RBP4 Retinol-binding protein 4 1 16 progressive retinal dystrophy due to retinol transport defect 0.549
P09172 DBH Dopamine beta-hydroxylase 1 2 orthostatic hypotension 1 0.547
P14735 IDE Insulin-degrading enzyme 1 27 type 2 diabetes mellitus 0.545
Q08722 CD47 Leukocyte surface antigen CD47 1 11 myelodysplastic syndrome 0.545
P42858 HTT Huntingtin 1 18 Huntington disease 0.545
O75324 SNN Stannin 1 1 cardiomyopathy 0.545
P10145 CXCL8 Interleukin-8 1 15 coronary artery disease 0.545
P35443 THBS4 Thrombospondin-4 1 3 Abnormality of the skeletal system 0.545
Q9P121 NTM Neurotrimin 1 2 smoking initiation 0.541
P10599 TXN Thioredoxin 1 28 neurodegenerative disease 0.54
O43493 TGOLN2 Trans-Golgi network integral membrane protein 2 1 1 osteoporosis 0.54
P32856 STX2 Syntaxin-2 1 7 venous thromboembolism 0.54
P36955 SERPINF1 Pigment epithelium-derived factor 1 17 osteogenesis imperfecta 0.54
P25774 CTSS Cathepsin S 1 11 basal cell carcinoma 0.538
P14136 GFAP Glial fibrillary acidic protein 1 4 Alexander disease 0.537
P16150 SPN Leukosialin 1 1 neurodegenerative disease 0.533
Q13794 PMAIP1 Phorbol-12-myristate-13-acetate-induced protein 1 1 1 neurodegenerative disease 0.533
P80162 CXCL6 C-X-C motif chemokine 6 1 3 neurodegenerative disease 0.533
P56199 ITGA1 Integrin alpha-1 1 1 type 2 diabetes mellitus 0.531
P21980 TGM2 Protein-glutamine gamma-glutamyltransferase 2 1 1 neurodegenerative disease 0.529
P05154 SERPINA5 Plasma serine protease inhibitor 1 2 preeclampsia 0.529
P01308 INS Insulin 1 243 diabetes mellitus, permanent neonatal 4 0.528
A6XGL2 INS Insulin 1 243 diabetes mellitus, permanent neonatal 4 0.528
Q9H082 RAB33B Ras-related protein Rab-33B 1 3 Smith-McCort dysplasia 2 0.527
P43490 NAMPT Nicotinamide phosphoribosyltransferase 1 5 neurodegenerative disease 0.525
P17405 SMPD1 Sphingomyelin phosphodiesterase 1 1 Niemann-Pick disease type A 0.525
P13726 F3 Tissue factor 1 36 cervical cancer 0.525
P14780 MMP9 Matrix metalloproteinase-9 1 69 metaphyseal anadysplasia 0.525
P13591 NCAM1 Neural cell adhesion molecule 1 1 1 smoking initiation 0.525
P06744 GPI Glucose-6-phosphate isomerase 1 19 hemolytic anemia due to glucophosphate isomerase deficiency 0.523
P09871 C1S Complement C1s subcomponent 1 1 Ehlers-Danlos syndrome, periodontal type 2 0.52
Q07108 CD69 Early activation antigen CD69 1 5 hypothyroidism 0.52
P13688 CEACAM1 Cell adhesion molecule CEACAM1 1 1 neoplasm 0.52
P08637 FCGR3A Low affinity immunoglobulin gamma Fc region receptor III-A 1 2 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0.52
P0CG30 GSTT2B Glutathione S-transferase theta-2B 1 26 neurodegenerative disease 0.517
O75594 PGLYRP1 Peptidoglycan recognition protein 1 1 2 dementia 0.516
Q96RS0 TGS1 Trimethylguanosine synthase 1 1 neurodegenerative disease 0.514
P26583 HMGB2 High mobility group protein B2 1 1 neoplasm 0.511
Q02161 RHD Blood group Rh(D) polypeptide 1 4 Rh deficiency syndrome 0.508
P99999 CYCS Cytochrome c 1 79 thrombocytopenia 4 0.505
P26440 IVD Isovaleryl-CoA dehydrogenase, mitochondrial 1 2 isovaleric acidemia 0.505
P41217 CD200 OX-2 membrane glycoprotein 1 4 basal cell carcinoma 0.505
P43251 BTD Biotinidase 1 1 biotinidase deficiency 0.504
O15067 PFAS Phosphoribosylformylglycinamidine synthase 1 10 dyskeratosis congenita 0.502
O60784 TOM1 Target of Myb1 membrane trafficking protein 1 1 neurodegenerative disease 0.502
Q8NF50 DOCK8 Dedicator of cytokinesis protein 8 1 2 combined immunodeficiency due to DOCK8 deficiency 0.501
P60763 RAC3 Ras-related C3 botulinum toxin substrate 3 1 1 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0.5
Q15828 CST6 Cystatin-M 1 1 autosomal recessive hypohidrotic ectodermal dysplasia 0.5
P50895 BCAM Basal cell adhesion molecule 1 2 metabolic syndrome 0.5
O75781 PALM Paralemmin-1 1 12 Anxiety 0.5
Q9UHD9 UBQLN2 Ubiquilin-2 1 2 amyotrophic lateral sclerosis type 15 0.499
Q8NHS0 DNAJB8 DnaJ homolog subfamily B member 8 1 2 neurodegenerative disease 0.497
P50461 CSRP3 Cysteine and glycine-rich protein 3 1 1 dilated cardiomyopathy 1M 0.496
P01730 CD4 T-cell surface glycoprotein CD4 1 96 HIV infection 0.495
P52926 HMGA2 High mobility group protein HMGI-C 1 5 Silver-Russell syndrome 5 0.494
P52594 AGFG1 Arf-GAP domain and FG repeat-containing protein 1 1 1 nervous system benign neoplasm 0.494
Q9NXG6 P4HTM Transmembrane prolyl 4-hydroxylase 1 1 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0.492
Q12979 ABR Active breakpoint cluster region-related protein 1 3 systemic lupus erythematosus 0.491
Q8NB16 MLKL Mixed lineage kinase domain-like protein 1 5 chronic recurrent multifocal osteomyelitis 0.49
P12830 CDH1 Cadherin-1 1 4 CDH1-related diffuse gastric and lobular breast cancer syndrome 0.49
P35241 RDX Radixin 1 2 hearing loss, autosomal recessive 0.49
P08842 STS Steryl-sulfatase 1 5   0.49
P07998 RNASE1 Ribonuclease pancreatic 1 17 neoplasm 0.485
Q86WV6 STING1 Stimulator of interferon genes protein 1 10 STING-associated vasculopathy with onset in infancy 0.485
P23458 JAK1 Tyrosine-protein kinase JAK1 1 2 rheumatoid arthritis 0.485
P63098 PPP3R1 Calcineurin subunit B type 1 1 2 Abnormality of the skeletal system 0.485
P35354 PTGS2 Prostaglandin G/H synthase 2 1 7 rheumatoid arthritis 0.483
P80188 LCN2 Neutrophil gelatinase-associated lipocalin 1 25 psoriasis 0.482
Q53GL0 PLEKHO1 Pleckstrin homology domain-containing family O member 1 1 2 neurodegenerative disease 0.482
Q99733 NAP1L4 Nucleosome assembly protein 1-like 4 1 1 neurodegenerative disease 0.48
Q4LDE5 SVEP1 Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 1 9 hypertension 0.48
Q9BVI4 NOC4L Nucleolar complex protein 4 homolog 1 1 Alzheimer disease 0.478
Q01518 CAP1 Adenylyl cyclase-associated protein 1 1 1 neurodegenerative disease 0.476
P50416 CPT1A Carnitine O-palmitoyltransferase 1, liver isoform 1 1 carnitine palmitoyl transferase 1A deficiency 0.474
P08865 RPSA Small ribosomal subunit protein uS2 1 1 familial isolated congenital asplenia 0.471
O00505 KPNA3 Importin subunit alpha-4 1 1 spastic paraplegia 88, autosomal dominant 0.47
P09543 CNP 2',3'-cyclic-nucleotide 3'-phosphodiesterase 1 9 myopia 2, autosomal dominant 0.47
P53365 ARFIP2 Arfaptin-2 1 1 hepatocellular carcinoma 0.468
P20794 MAK Serine/threonine-protein kinase MAK 1 3 retinitis pigmentosa 0.467
P47929 LGALS7 Galectin-7 1 1 neurodegenerative disease 0.465
P10643 C7 Complement component C7 1 14 Immunodeficiency due to a late component of complements deficiency 0.465
O95487 SEC24B Protein transport protein Sec24B 1 1 atrial heart septal defect 0.465
P35659 DEK Protein DEK 1 14 atrial fibrillation 0.464
P05452 CLEC3B Tetranectin 1 1 macular dystrophy, retinal, 4 0.46
P69905 HBA1 Hemoglobin subunit alpha 1 30 hemoglobin H disease 0.457
Q93045 STMN2 Stathmin-2 1 3 neurodegenerative disease 0.457
P35625 TIMP3 Metalloproteinase inhibitor 3 1 3 Sorsby fundus dystrophy 0.457
P40121 CAPG Macrophage-capping protein 1 1 Sensorineural hearing impairment 0.455
P62745 RHOB Rho-related GTP-binding protein RhoB 1 7 neurodegenerative disease 0.455
Q0PNE2 ELP6 Elongator complex protein 6 1 3 Crohn's disease 0.452
Q9Y315 DERA Deoxyribose-phosphate aldolase 1 2 mathematical ability 0.452
Q13308 PTK7 Inactive tyrosine-protein kinase 7 1 110 neurodegenerative disease 0.452
Q13443 ADAM9 Disintegrin and metalloproteinase domain-containing protein 9 1 3 Cone rod dystrophy 0.452
P02743 APCS Serum amyloid P-component 1 13 AL amyloidosis 0.45
Q5TA50 CPTP Ceramide-1-phosphate transfer protein 1 1 pachyonychia congenita 0.45
P02675 FGB Fibrinogen beta chain 1 1 congenital afibrinogenemia 0.45
Q9GZY8 MFF Mitochondrial fission factor 1 2 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect 0.45
P32121 ARRB2 Beta-arrestin-2 1 4 cancer 0.45
Q12905 ILF2 Interleukin enhancer-binding factor 2 1 2 neurodegenerative disease 0.45
P08571 CD14 Monocyte differentiation antigen CD14 1 14 dengue disease 0.449
Q9P2X3 IMPACT Protein IMPACT 1 704 cancer 0.448
Q99969 RARRES2 Retinoic acid receptor responder protein 2 1 2 Abnormality of the skeletal system 0.445
P31947 SFN 14-3-3 protein sigma 1 2 neurodegenerative disease 0.444
Q07075 ENPEP Glutamyl aminopeptidase 1 2 hypertension 0.44
P29992 GNA11 Guanine nucleotide-binding protein subunit alpha-11 1 1 Familial isolated hypoparathyroidism 0.44
P07858 CTSB Cathepsin B 1 8 Alzheimer disease 0.44
P01848 TRAC T cell receptor alpha chain constant 1 8   0.44
Q9P126 CLEC1B C-type lectin domain family 1 member B 1 1 hepatocellular carcinoma 0.44
Q8TB72 PUM2 Pumilio homolog 2 1 1 neurodegenerative disease 0.44
P16455 MGMT Methylated-DNA--protein-cysteine methyltransferase 1 4 Abnormality of the skeletal system 0.439
Q9P0M6 MACROH2A2 Core histone macro-H2A.2 1 13 enteritis 0.437
P24593 IGFBP5 Insulin-like growth factor-binding protein 5 1 4 hypothyroidism 0.432
P07996 THBS1 Thrombospondin-1 1 6 autism spectrum disorder 0.429
P29317 EPHA2 Ephrin type-A receptor 2 1 16 Total congenital cataract 0.427
Q05655 PRKCD Protein kinase C delta type 1 2 autoimmune lymphoproliferative syndrome 0.427
P01037 CST1 Cystatin-SN 1 1 alcohol drinking 0.425
P07910 HNRNPC Heterogeneous nuclear ribonucleoproteins C1/C2 1 1 intellectual developmental disorder, autosomal dominant 74 0.423
Q9NRA1 PDGFC Platelet-derived growth factor C 1 2 Abnormality of the skeletal system 0.422
P42704 LRPPRC Leucine-rich PPR motif-containing protein, mitochondrial 1 2 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0.422
Q07065 CKAP4 Cytoskeleton-associated protein 4 1 9 smoking initiation 0.421
P55058 PLTP Phospholipid transfer protein 1 2 familial hyperlipidemia 0.421
P00480 OTC Ornithine transcarbamylase, mitochondrial 1 71 ornithine carbamoyltransferase deficiency 0.417
Q01105 SET Protein SET 1 556 intellectual disability, autosomal dominant 58 0.417
Q16719 KYNU Kynureninase 1 2 vertebral, cardiac, renal, and limb defects syndrome 2 0.415
Q6FI81 CIAPIN1 Anamorsin 1 1 neurodegenerative disease 0.411
P56470 LGALS4 Galectin-4 1 2 neurodegenerative disease 0.41
Q96SW2 CRBN Protein cereblon 1 1 multiple myeloma 0.401
P06401 PGR Progesterone receptor 1 11 endometriosis 0.397
P01877 IGHA2 Immunoglobulin heavy constant alpha 2 1 2 Chronic mucocutaneous candidosis 0.389
P09769 FGR Tyrosine-protein kinase Fgr 1 1 chronic myelogenous leukemia 0.389
O60506 SYNCRIP Heterogeneous nuclear ribonucleoprotein Q 1 1 SYNCRIP-related neurodevelopmental disorder 0.388
P00441 SOD1 Superoxide dismutase [Cu-Zn] 1 7 amyotrophic lateral sclerosis 0.387
P34949 MPI Mannose-6-phosphate isomerase 1 2 MPI-congenital disorder of glycosylation 0.385
Q6R327 RICTOR Rapamycin-insensitive companion of mTOR 1 2 lung carcinoma 0.38
Q8NC44 RETREG2 Reticulophagy regulator 2 1 6 cyst 0.378
P08574 CYC1 Cytochrome c1, heme protein, mitochondrial 1 1 Isolated CoQ-cytochrome C reductase deficiency 0.377
Q8NBP7 PCSK9 Proprotein convertase subtilisin/kexin type 9 1 23 familial hypercholesterolemia 0.37
Q96QZ7 MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1 1 cervical carcinoma 0.364
Q13423 NNT NAD(P) transhydrogenase, mitochondrial 1 3 familial glucocorticoid deficiency 0.364
Q13009 TIAM1 Rho guanine nucleotide exchange factor TIAM1 1 1 neurodevelopmental disorder with language delay and seizures 0.362
P15559 NQO1 NAD(P)H dehydrogenase [quinone] 1 1 3 neurodegenerative disease 0.354
P54578 USP14 Ubiquitin carboxyl-terminal hydrolase 14 1 3 Abnormality of the skeletal system 0.339
Q99418 CYTH2 Cytohesin-2 1 2 neurodegenerative disease 0.337
P06732 CKM Creatine kinase M-type 1 2 response to statin 0.335
O00748 CES2 Cocaine esterase 1 2 neurodegenerative disease 0.33
P15531 NME1 Nucleoside diphosphate kinase A 1 1 placenta praevia 0.328
P09914 IFIT1 Antiviral innate immune response effector IFIT1 1 1 neurodegenerative disease 0.328
P11532 DMD Dystrophin 1 32 Duchenne muscular dystrophy 0.327
P02686 MBP Myelin basic protein 1 21 alcohol drinking 0.311
P07900 HSP90AA1 Heat shock protein HSP 90-alpha 1 1 cancer 0.304
P20042 EIF2S2 Eukaryotic translation initiation factor 2 subunit 2 1 3 ovarian dysfunction 0.3
P02771 AFP Alpha-fetoprotein 1 195 Congenital deficiency in alpha-fetoprotein 0.26
P04406 GAPDH Glyceraldehyde-3-phosphate dehydrogenase 1 11 neurodegenerative disease 0.205
Q16798 ME3 NADP-dependent malic enzyme, mitochondrial 1 1 open-angle glaucoma 0.203
P61626 LYZ Lysozyme C 1 10 Familial renal amyloidosis 0.195
P02768 ALB Albumin 1 428 hyperthyroxinemia 0.14
P60709 ACTB Actin, cytoplasmic 1 1 3 Baraitser-Winter syndrome 1 0.06
P08670 VIM Vimentin 1 50 dengue disease 0.0
P23526 AHCY Adenosylhomocysteinase 1 1 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 0.0
O00244 ATOX1 Copper transport protein ATOX1 1 1 neurodegenerative disease 0.0
Q06830 PRDX1 Peroxiredoxin-1 1 1 Methylmalonic acidemia with homocystinuria, type cblC 0.0
Q14376 GALE UDP-glucose 4-epimerase 1 1 galactose epimerase deficiency 0.0
P35270 SPR Sepiapterin reductase 1 368 dopa-responsive dystonia due to sepiapterin reductase deficiency 0.0
P52209 PGD 6-phosphogluconate dehydrogenase, decarboxylating 1 1 neurodegenerative disease 0.0
P00915 CA1 Carbonic anhydrase 1 1 2 altitude sickness 0.0
O00625 PIR Pirin 1 1 COVID-19 0.0
P02792 FTL Ferritin light chain 1 1 hereditary hyperferritinemia with congenital cataracts 0.0
P60174 TPI1 Triosephosphate isomerase 1 1 triosephosphate isomerase deficiency 0.0
P05089 ARG1 Arginase-1 1 2 Argininemia 0.0
Q99714 HSD17B10 3-hydroxyacyl-CoA dehydrogenase type-2 1 1 HSD10 mitochondrial disease 0.0
P04424 ASL Argininosuccinate lyase 1 7 argininosuccinic aciduria 0.0
P09960 LTA4H Leukotriene A-4 hydrolase 1 1 small intestine neuroendocrine tumor 0.0
P39023 RPL3 Large ribosomal subunit protein uL3 1 1 influenza 0.0
P42330 AKR1C3 Aldo-keto reductase family 1 member C3 1 1 prostate cancer 0.0
P82921 MRPS21 Small ribosomal subunit protein bS21m 1 9 neurodegenerative disease 0.0
P38117 ETFB Electron transfer flavoprotein subunit beta 1 4 multiple acyl-CoA dehydrogenase deficiency 0.0
P04040 CAT Catalase 1 123 acatalasia 0.0
P08758 ANXA5 Annexin A5 1 2 habitual abortion 0.0
P31153 MAT2A S-adenosylmethionine synthase isoform type-2 1 1 neurodegenerative disease 0.0
P05091 ALDH2 Aldehyde dehydrogenase, mitochondrial 1 1 alcohol dependence 0.0
P05413 FABP3 Fatty acid-binding protein, heart 1 2 early-onset non-syndromic cataract 0.0
P00374 DHFR Dihydrofolate reductase 1 6 constitutional megaloblastic anemia with severe neurologic disease 0.0
Q96GD0 PDXP Chronophin 1 1 experimental autoimmune encephalomyelitis 0.0
P27338 MAOB Amine oxidase [flavin-containing] B 1 1 Parkinson disease 0.0
P68036 UBE2L3 Ubiquitin-conjugating enzyme E2 L3 1 1 neurodegenerative disease 0.0
P15090 FABP4 Fatty acid-binding protein, adipocyte 1 1 type 2 diabetes mellitus 0.0
P32754 HPD 4-hydroxyphenylpyruvate dioxygenase 1 2 Tyrosinemia type 3 0.0
P61088 UBE2N Ubiquitin-conjugating enzyme E2 N 1 1 ovarian cancer 0.0
O75608 LYPLA1 Acyl-protein thioesterase 1 1 1 ovarian neoplasm 0.0
P02794 FTH1 Ferritin heavy chain 1 2 neurodegeneration with brain iron accumulation 9 0.0
P78417 GSTO1 Glutathione S-transferase omega-1 1 2 neurodegenerative disease 0.0
P84098 RPL19 Large ribosomal subunit protein eL19 1 2 influenza 0.0
P52788 SMS Spermine synthase 1 3 syndromic X-linked intellectual disability Snyder type 0.0
P25787 PSMA2 Proteasome subunit alpha type-2 1 2 multiple myeloma 0.0
P55769 SNU13 NHP2-like protein 1 1 2 atrial fibrillation 0.0
Q9NPE3 NOP10 H/ACA ribonucleoprotein complex subunit 3 1 1 dyskeratosis congenita, autosomal recessive 1 0.0
P06280 GLA Alpha-galactosidase A 1 15 Fabry disease 0.0
P11413 G6PD Glucose-6-phosphate 1-dehydrogenase 1 3 anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.0
P18669 PGAM1 Phosphoglycerate mutase 1 1 1 neoplasm 0.0
P10619 CTSA Lysosomal protective protein 1 3 galactosialidosis 0.0
P08133 ANXA6 Annexin A6 1 1 systemic lupus erythematosus 0.0
P12004 PCNA DNA sliding clamp PCNA 1 13 ataxia-telangiectasia-like disorder 0.0
P00491 PNP Purine nucleoside phosphorylase 1 3 purine nucleoside phosphorylase deficiency 0.0
P49366 DHPS Deoxyhypusine synthase 1 2 neurodevelopmental disorder with seizures and speech and walking impairment 0.0
P61981 YWHAG 14-3-3 protein gamma 1 1 genetic developmental and epileptic encephalopathy 0.0
P04181 OAT Ornithine aminotransferase, mitochondrial 1 5 Gyrate atrophy of choroid and retina 0.0
P04818 TYMS Thymidylate synthase 1 4 dyskeratosis congenita, digenic 0.0
P63104 YWHAZ 14-3-3 protein zeta/delta 1 2 neurodegenerative disease 0.0
P63000 RAC1 Ras-related C3 botulinum toxin substrate 1 1 9 intellectual disability, autosomal dominant 48 0.0
P19784 CSNK2A2 Casein kinase II subunit alpha' 1 1 neurodegenerative disease 0.0
P60953 CDC42 Cell division control protein 42 homolog 1 3 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0.0
P61586 RHOA Transforming protein RhoA 1 4 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0.0
P61964 WDR5 WD repeat-containing protein 5 1 1 Neurodevelopmental disorder 0.0
P62241 RPS8 Small ribosomal subunit protein eS8 1 1 influenza 0.0
Q9NRX2 MRPL17 Large ribosomal subunit protein bL17m 1 5 neurodegenerative disease 0.0
P62308 SNRPG Small nuclear ribonucleoprotein G 1 5 neurodegenerative disease 0.0
P01040 CSTA Cystatin-A 1 7 peeling skin syndrome 4 0.0
Q9BYD1 MRPL13 Large ribosomal subunit protein uL13m 1 1 neurodegenerative disease 0.0
P04179 SOD2 Superoxide dismutase [Mn], mitochondrial 1 4 neurodegenerative disease 0.0
O75223 GGCT Gamma-glutamylcyclotransferase 1 1 ovarian neoplasm 0.0
O15382 BCAT2 Branched-chain-amino-acid aminotransferase, mitochondrial 1 1 hypervalinemia and hyperleucine-isoleucinemia 0.0
O14744 PRMT5 Protein arginine N-methyltransferase 5 1 1 neurodegenerative disease 0.0
O15294 OGT UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit 1 2 intellectual disability, X-linked 106 0.0
P04062 GBA1 Lysosomal acid glucosylceramidase 1 1 Gaucher disease type 1 0.0
P07954 FH Fumarate hydratase, mitochondrial 1 4 hereditary leiomyomatosis and renal cell cancer 0.0
Q9Y2R5 MRPS17 Small ribosomal subunit protein uS17m 1 9 neurodegenerative disease 0.0
Q16540 MRPL23 Large ribosomal subunit protein uL23m 1 5 neurodegenerative disease 0.0
P62910 RPL32 Large ribosomal subunit protein eL32 1 1 influenza 0.0
P42336 PIK3CA Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 1 2 megalencephaly-capillary malformation-polymicrogyria syndrome 0.0
P23921 RRM1 Ribonucleoside-diphosphate reductase large subunit 1 1 non-small cell lung carcinoma 0.0
Q13084 MRPL28 Large ribosomal subunit protein bL28m 1 5 Miyoshi myopathy 0.0
Q15370 ELOB Elongin-B 1 1 HIV infection 0.0
P10253 GAA Lysosomal alpha-glucosidase 1 9 Glycogen storage disease due to acid maltase deficiency 0.0
Q5VW32 BROX BRO1 domain-containing protein BROX 1 1 angina pectoris 0.0
P01111 NRAS GTPase NRas 1 2 Noonan syndrome 6 0.0
Q13347 EIF3I Eukaryotic translation initiation factor 3 subunit I 1 1 neurodegenerative disease 0.0
P23284 PPIB Peptidyl-prolyl cis-trans isomerase B 1 3 osteogenesis imperfecta type 9 0.0
P52789 HK2 Hexokinase-2 1 5 neurodegenerative disease 0.0
O14980 XPO1 Exportin-1 1 2 multiple myeloma 0.0
Q13526 PIN1 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 1 1 Abnormality of the skeletal system 0.0
P01116 KRAS GTPase KRas 1 21 Noonan syndrome 3 0.0
P07902 GALT Galactose-1-phosphate uridylyltransferase 1 1 classic galactosemia 0.0
A0AVT1 UBA6 Ubiquitin-like modifier-activating enzyme 6 1 1 neurodegenerative disease 0.0
Q00535 CDK5 Cyclin-dependent kinase 5 1 4 Alzheimer disease 0.0
P00390 GSR Glutathione reductase, mitochondrial 1 1 hemolytic anemia due to glutathione reductase deficiency 0.0
P16435 POR NADPH--cytochrome P450 reductase 1 11 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0.0
F5H747 UBC   1 9 HIV infection 0.0
Q9BYC9 MRPL20 Large ribosomal subunit protein bL20m 1 5 neurodegenerative disease 0.0
Q9NYA1 SPHK1 Sphingosine kinase 1 1 1 neurodegenerative disease 0.0
P41240 CSK Tyrosine-protein kinase CSK 1 1 cancer 0.0
P62861 FAU Ubiquitin-like FUBI-ribosomal protein eS30 fusion protein 1 7 neurodegenerative disease 0.0
Q9P015 MRPL15 Large ribosomal subunit protein uL15m 1 5 neurodegenerative disease 0.0
Q9C0B1 FTO Alpha-ketoglutarate-dependent dioxygenase FTO 1 39 lethal polymalformative syndrome, Boissel type 0.0
Q9Y3D3 MRPS16 Small ribosomal subunit protein bS16m 1 9 combined oxidative phosphorylation defect type 2 0.0
P06730 EIF4E Eukaryotic translation initiation factor 4E 1 6 neurodegenerative disease 0.0
O00214 LGALS8 Galectin-8 1 1 alcohol drinking 0.0
O15455 TLR3 Toll-like receptor 3 1 7 Herpetic encephalitis 0.0
Q9Y5K5 UCHL5 Ubiquitin carboxyl-terminal hydrolase isozyme L5 1 1 neurodegenerative disease 0.0
O14773 TPP1 Tripeptidyl-peptidase 1 1 2 neuronal ceroid lipofuscinosis 2 0.0
P28482 MAPK1 Mitogen-activated protein kinase 1 1 9 Noonan syndrome 0.0
P34947 GRK5 G protein-coupled receptor kinase 5 1 1 venous thromboembolism 0.0
P46782 RPS5 Small ribosomal subunit protein uS7 1 1 influenza 0.0
Q9NP81 SARS2 Serine--tRNA ligase, mitochondrial 1 438 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 0.0
P11498 PC Pyruvate carboxylase, mitochondrial 1 607 pyruvate carboxylase deficiency disease 0.0
P27695 APEX1 DNA repair nuclease/redox regulator APEX1 1 7 neurodegenerative disease 0.0
P25098 GRK2 Beta-adrenergic receptor kinase 1 1 5 Jeune syndrome 0.0
Q9NXA8 SIRT5 NAD-dependent protein deacylase sirtuin-5, mitochondrial 1 1 sleep apnea 0.0
Q14195 DPYSL3 Dihydropyrimidinase-related protein 3 1 2 neurodegenerative disease 0.0
Q15843 NEDD8 Ubiquitin-like protein NEDD8 1 1 neurodegenerative disease 0.0
P35520 CBS Cystathionine beta-synthase 1 6 classic homocystinuria 0.0
P16278 GLB1 Beta-galactosidase 1 31 mucopolysaccharidosis type 4B 0.0
P53634 CTSC Dipeptidyl peptidase 1 1 1 Papillon-Lefèvre syndrome 0.0
Q12933 TRAF2 TNF receptor-associated factor 2 1 2 genetic disorder 0.0
Q15369 ELOC Elongin-C 1 1 HIV infection 0.0
P62805 H4C1 Histone H4 1 5 infectious disease 0.0
P62068 USP46 Ubiquitin carboxyl-terminal hydrolase 46 1 1 male reproductive organ cancer 0.0
P47897 QARS1 Glutamine--tRNA ligase 1 3 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 0.0
Q16539 MAPK14 Mitogen-activated protein kinase 14 1 2 neurodegenerative disease 0.0
Q9UHD2 TBK1 Serine/threonine-protein kinase TBK1 1 1 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0.0
O75844 ZMPSTE24 CAAX prenyl protease 1 homolog 1 1 mandibuloacral dysplasia with type B lipodystrophy 0.0
P13639 EEF2 Elongation factor 2 1 5 spinocerebellar ataxia type 26 0.0
P39748 FEN1 Flap endonuclease 1 1 13 neurodegenerative disease 0.0
P06493 CDK1 Cyclin-dependent kinase 1 1 3 neurodegenerative disease 0.0
P32456 GBP2 Guanylate-binding protein 2 1 2 bacterial disease 0.0
P06396 GSN Gelsolin 1 6 Finnish type amyloidosis 0.0
O15264 MAPK13 Mitogen-activated protein kinase 13 1 1 attention deficit hyperactivity disorder 0.0
P07332 FES Tyrosine-protein kinase Fes/Fps 1 6 hypertension 0.0
Q93034 CUL5 Cullin-5 1 1 HIV infection 0.0
P0CG48 UBC Polyubiquitin-C 1 9 HIV infection 0.0
Q96A35 MRPL24 Large ribosomal subunit protein uL24m 1 5 neurodegenerative disease 0.0
O14966 RAB29 Ras-related protein Rab-29 1 3 prostate carcinoma 0.0
P0DMV8 HSPA1A Heat shock 70 kDa protein 1A 1 2 chronic obstructive pulmonary disease 0.0
P62826 RAN GTP-binding nuclear protein Ran 1 46 HIV infection 0.0
Q99873 PRMT1 Protein arginine N-methyltransferase 1 1 1 neurodegenerative disease 0.0
P11142 HSPA8 Heat shock cognate 71 kDa protein 1 3 dengue disease 0.0
P24941 CDK2 Cyclin-dependent kinase 2 1 24 neurodegenerative disease 0.0
Q9HC16 APOBEC3G DNA dC->dU-editing enzyme APOBEC-3G 1 1 HIV infection 0.0
P49841 GSK3B Glycogen synthase kinase-3 beta 1 1 bipolar disorder 0.0
Q9BRX2 PELO Protein pelota homolog 1 1 type 2 diabetes mellitus 0.0
P16591 FER Tyrosine-protein kinase Fer 1 2 Abnormality of the skeletal system 0.0
P08246 ELANE Neutrophil elastase 1 21 cyclic hematopoiesis 0.0
Q99707 MTR Methionine synthase 1 1 methylcobalamin deficiency type cblG 0.0
P09661 SNRPA1 U2 small nuclear ribonucleoprotein A' 1 1 neurodegenerative disease 0.0
Q9HAV4 XPO5 Exportin-5 1 2 neurodegenerative disease 0.0
Q8TDX7 NEK7 Serine/threonine-protein kinase Nek7 1 1 lymphatic system disease 0.0
Q15257 PTPA Serine/threonine-protein phosphatase 2A activator 1 1 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development 0.0
O15533 TAPBP Tapasin 1 1   0.0
P27708 CAD Multifunctional protein CAD 1 19 congenital disorder of glycosylation type I 0.0
Q9Y2R9 MRPS7 Small ribosomal subunit protein uS7m 1 9 neurodegenerative disease 0.0
P62081 RPS7 Small ribosomal subunit protein eS7 1 1 Blackfan-Diamond anemia 0.0
P50750 CDK9 Cyclin-dependent kinase 9 1 2 HIV infection 0.0
O60674 JAK2 Tyrosine-protein kinase JAK2 1 8 polycythemia vera 0.0
P15498 VAV1 Proto-oncogene vav 1 1 cutaneous Leishmaniasis 0.0
Q92905 COPS5 COP9 signalosome complex subunit 5 1 1 Joubert syndrome 21 0.0
P26038 MSN Moesin 1 65 combined immunodeficiency due to moesin deficiency 0.0
O14920 IKBKB Inhibitor of nuclear factor kappa-B kinase subunit beta 1 2 severe combined immunodeficiency due to IKK2 deficiency 0.0
P22830 FECH Ferrochelatase, mitochondrial 1 2 autosomal erythropoietic protoporphyria 0.0
P16104 H2AX Histone H2AX 1 6 cancer 0.0
P84077 ARF1 ADP-ribosylation factor 1 1 3 periventricular nodular heterotopia 8 0.0
P42574 CASP3 Caspase-3 1 71 neurodegenerative disease 0.0
Q06124 PTPN11 Tyrosine-protein phosphatase non-receptor type 11 1 1 Noonan syndrome 0.0
Q07812 BAX Apoptosis regulator BAX 1 21 T-cell acute lymphoblastic leukemia 0.0
P49327 FASN Fatty acid synthase 1 1 dengue disease 0.0
Q08209 PPP3CA Protein phosphatase 3 catalytic subunit alpha 1 1 developmental and epileptic encephalopathy 91 0.0
Q13617 CUL2 Cullin-2 1 1 Crohn's disease 0.0
P05771 PRKCB Protein kinase C beta type 1 1 acute myeloid leukemia 0.0
Q6P1L8 MRPL14 Large ribosomal subunit protein uL14m 1 5 neurodegenerative disease 0.0
Q92769 HDAC2 Histone deacetylase 2 1 2 neoplasm 0.0
Q9NWU5 MRPL22 Large ribosomal subunit protein uL22m 1 5 neurodegenerative disease 0.0
Q5T653 MRPL2 Large ribosomal subunit protein uL2m 1 5 neurodegenerative disease 0.0
O14727 APAF1 Apoptotic protease-activating factor 1 1 1 neurodegenerative disease 0.0
O95786 RIGI Antiviral innate immune response receptor RIG-I 1 6 Singleton-Merten dysplasia 0.0
P42229 STAT5A Signal transducer and activator of transcription 5A 1 2 cancer 0.0
Q00534 CDK6 Cyclin-dependent kinase 6 1 2 small cell lung carcinoma 0.0
P06576 ATP5F1B ATP synthase F(1) complex subunit beta, mitochondrial 1 1 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 0.0
P41091 EIF2S3 Eukaryotic translation initiation factor 2 subunit 3 1 3 MEHMO syndrome 0.0
P35609 ACTN2 Alpha-actinin-2 1 1 dilated cardiomyopathy 1AA 0.0
Q9H9Q2 COPS7B COP9 signalosome complex subunit 7b 1 1 head and neck squamous cell carcinoma 0.0
P43403 ZAP70 Tyrosine-protein kinase ZAP-70 1 4 combined immunodeficiency due to ZAP70 deficiency 0.0
P30626 SRI Sorcin 1 17 genetic disorder 0.0
Q86VX2 COMMD7 COMM domain-containing protein 7 1 1 androgenetic alopecia 0.0
Q06187 BTK Tyrosine-protein kinase BTK 1 1 X-linked agammaglobulinemia 0.0
P52434 POLR2H DNA-directed RNA polymerases I, II, and III subunit RPABC3 1 1 HIV infection 0.0
P08238 HSP90AB1 Heat shock protein HSP 90-beta 1 1 multiple myeloma 0.0
P12956 XRCC6 DNA repair protein Ku70 1 2 HIV infection 0.0
P35268 RPL22 Large ribosomal subunit protein eL22 1 1 influenza 0.0
Q14258 TRIM25 E3 ubiquitin/ISG15 ligase TRIM25 1 1 dengue disease 0.0
P43405 SYK Tyrosine-protein kinase SYK 1 2 immunodeficiency 82 with systemic inflammation 0.0
P49406 MRPL19 Large ribosomal subunit protein bL19m 1 5 neurodegenerative disease 0.0
Q9GZQ3 COMMD5 COMM domain-containing protein 5 1 1 neurodegenerative disease 0.0
Q9Y230 RUVBL2 RuvB-like 2 1 1 neurodegenerative disease 0.0
P26196 DDX6 Probable ATP-dependent RNA helicase DDX6 1 2 intellectual developmental disorder with impaired language and dysmorphic facies 0.0
Q8NBK3 SUMF1 Formylglycine-generating enzyme 1 1 Multiple sulfatase deficiency 0.0
P12931 SRC Proto-oncogene tyrosine-protein kinase Src 1 19 cancer 0.0
Q04837 SSBP1 Single-stranded DNA-binding protein, mitochondrial 1 1 optic atrophy 13 with retinal and foveal abnormalities 0.0
P06239 LCK Tyrosine-protein kinase Lck 1 3 severe combined immunodeficiency due to LCK deficiency 0.0
Q9Y3B7 MRPL11 Large ribosomal subunit protein uL11m 1 5 neurodegenerative disease 0.0
Q9BYD3 MRPL4 Large ribosomal subunit protein uL4m 1 5 neurodegenerative disease 0.0
P84022 SMAD3 SMAD family member 3 1 6 Aneurysm - osteoarthritis syndrome 0.0
Q13557 CAMK2D Calcium/calmodulin-dependent protein kinase type II subunit delta 1 1 Neurodevelopmental disorder 0.0
Q9UNP9 PPIE Peptidyl-prolyl cis-trans isomerase E 1 1 dengue disease 0.0
P27986 PIK3R1 Phosphatidylinositol 3-kinase regulatory subunit alpha 1 1 SHORT syndrome 0.0
Q02750 MAP2K1 Dual specificity mitogen-activated protein kinase kinase 1 1 1 cardiofaciocutaneous syndrome 0.0
P31749 AKT1 RAC-alpha serine/threonine-protein kinase 1 5 Proteus syndrome 0.0
P13010 XRCC5 DNA repair protein Ku80 1 1 HIV infection 0.0
P09601 HMOX1 Heme oxygenase 1 1 6 heme oxygenase 1 deficiency 0.0
Q9HD33 MRPL47 Large ribosomal subunit protein uL29m 1 5 Delayed speech and language development 0.0
P35221 CTNNA1 Catenin alpha-1 1 2 Butterfly-shaped pigment dystrophy 0.0
P13984 GTF2F2 General transcription factor IIF subunit 2 1 1 HIV infection 0.0
Q9NR28 DIABLO Diablo IAP-binding mitochondrial protein 1 2 autosomal dominant nonsyndromic hearing loss 0.0
P49137 MAPKAPK2 MAP kinase-activated protein kinase 2 1 1 neurodegenerative disease 0.0
Q9Y399 MRPS2 Small ribosomal subunit protein uS2m 1 9 combined oxidative phosphorylation deficiency 36 0.0
P09874 PARP1 Poly [ADP-ribose] polymerase 1 1 9 ovarian cancer 0.0
P55072 VCP Transitional endoplasmic reticulum ATPase 1 1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0.0
P45983 MAPK8 Mitogen-activated protein kinase 8 1 2 cancer 0.0
P53355 DAPK1 Death-associated protein kinase 1 1 1 neurodegenerative disease 0.0
Q9H2U1 DHX36 ATP-dependent DNA/RNA helicase DHX36 1 1 Abnormality of the skeletal system 0.0
Q9Y6K9 IKBKG NF-kappa-B essential modulator 1 2 incontinentia pigmenti 0.0
Q14790 CASP8 Caspase-8 1 9 Autoimmune lymphoproliferative syndrome with recurrent viral infections 0.0
Q07960 ARHGAP1 Rho GTPase-activating protein 1 1 2 heart disease 0.0
P82933 MRPS9 Small ribosomal subunit protein uS9m 1 9 neurodegenerative disease 0.0
P29597 TYK2 Non-receptor tyrosine-protein kinase TYK2 1 1 immunodeficiency 35 0.0
Q8IXJ6 SIRT2 NAD-dependent protein deacetylase sirtuin-2 1 4 neoplasm 0.0
P61587 RND3 Rho-related GTP-binding protein RhoE 1 1 azoospermia 0.0
P45984 MAPK9 Mitogen-activated protein kinase 9 1 1 cancer 0.0
P55854 SUMO3 Small ubiquitin-related modifier 3 1 2 fragile X-associated tremor/ataxia syndrome 0.0
P28676 GCA Grancalcin 1 7 intelligence 0.0
P06241 FYN Tyrosine-protein kinase Fyn 1 5 chronic myelogenous leukemia 0.0
P41743 PRKCI Protein kinase C iota type 1 2 acute myeloid leukemia 0.0
P55211 CASP9 Caspase-9 1 8 neurodegenerative disease 0.0
Q14653 IRF3 Interferon regulatory factor 3 1 5 Herpetic encephalitis 0.0
Q12769 NUP160 Nuclear pore complex protein Nup160 1 2 nephrotic syndrome 0.0
P11387 TOP1 DNA topoisomerase 1 1 4 small cell lung carcinoma 0.0
Q15691 MAPRE1 Microtubule-associated protein RP/EB family member 1 1 1 neurodegenerative disease 0.0
O94925 GLS Glutaminase kidney isoform, mitochondrial 1 2 global developmental delay, progressive ataxia, and elevated glutamine 0.0
Q7RTN6 STRADA STE20-related kinase adapter protein alpha 1 7 polyhydramnios, megalencephaly, and symptomatic epilepsy 0.0
Q13137 CALCOCO2 Calcium-binding and coiled-coil domain-containing protein 2 1 1 Abnormality of the skeletal system 0.0
Q9P289 STK26 Serine/threonine-protein kinase 26 1 3 hepatocellular carcinoma 0.0
P24864 CCNE1 G1/S-specific cyclin-E1 1 1 Abnormality of the skeletal system 0.0
Q9UBU9 NXF1 Nuclear RNA export factor 1 1 1 chronic lymphocytic leukemia 0.0
O75534 CSDE1 Cold shock domain-containing protein E1 1 1 neurodegenerative disease 0.0
P61011 SRP54 Signal recognition particle subunit SRP54 1 1 neutropenia, severe congenital, 8, autosomal dominant 0.0
P49257 LMAN1 Protein ERGIC-53 1 1 factor V and factor VIII, combined deficiency of, type 1 0.0
P53779 MAPK10 Mitogen-activated protein kinase 10 1 1 gout 0.0
Q8NE86 MCU Calcium uniporter protein, mitochondrial 1 2 neurodegenerative disease 0.0
P15927 RPA2 Replication protein A 32 kDa subunit 1 1 neurodegenerative disease 0.0
Q13330 MTA1 Metastasis-associated protein MTA1 1 1 neurodegenerative disease 0.0
P29558 RBMS1 RNA-binding motif, single-stranded-interacting protein 1 1 1 neurodegenerative disease 0.0
P51532 SMARCA4 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 1 1 intellectual disability, autosomal dominant 16 0.0
Q9NTZ6 RBM12 RNA-binding protein 12 1 174 neurodegenerative disease 0.0
Q86V81 ALYREF THO complex subunit 4 1 1   0.0
P00519 ABL1 Tyrosine-protein kinase ABL1 1 5 chronic myelogenous leukemia 0.0
Q9NY12 GAR1 H/ACA ribonucleoprotein complex subunit 1 1 1 neurodegenerative disease 0.0
P55957 BID BH3-interacting domain death agonist 1 1 neurodegenerative disease 0.0
P22681 CBL E3 ubiquitin-protein ligase CBL 1 4 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 0.0
Q14103 HNRNPD Heterogeneous nuclear ribonucleoprotein D0 1 4 dengue disease 0.0
P29353 SHC1 SHC-transforming protein 1 1 2 cancer 0.0
P67809 YBX1 Y-box-binding protein 1 1 9 dengue disease 0.0
P19338 NCL Nucleolin 1 541 neurodegenerative disease 0.0
Q14432 PDE3A cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A 1 1 Brachydactyly - arterial hypertension 0.0
P50402 EMD Emerin 1 5 X-linked Emery-Dreifuss muscular dystrophy 0.0
Q7Z4V5 HDGFL2 Hepatoma-derived growth factor-related protein 2 1 1 Miyoshi myopathy 0.0
P04150 NR3C1 Glucocorticoid receptor 1 5 glucocorticoid resistance 0.0
Q9Y5A9 YTHDF2 YTH domain-containing family protein 2 1 1 neurodegenerative disease 0.0
P46937 YAP1 Transcriptional coactivator YAP1 1 4 uveal coloboma-cleft lip and palate-intellectual disability 0.0
Q14444 CAPRIN1 Caprin-1 1 1 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 0.0
P43694 GATA4 Transcription factor GATA-4 1 1 atrial septal defect 2 0.0
Q13469 NFATC2 Nuclear factor of activated T-cells, cytoplasmic 2 1 1 hypertension 0.0
P51608 MECP2 Methyl-CpG-binding protein 2 1 4 Rett syndrome 0.0
Q9HC77 CPAP Centrosomal P4.1-associated protein 1 1 autosomal recessive primary microcephaly 0.0
Q7Z3T8 ZFYVE16 Zinc finger FYVE domain-containing protein 16 1 2 liver disease 0.0
P35637 FUS RNA-binding protein FUS 1 8 sporadic amyotrophic lateral sclerosis 0.0
Q8WZ42 TTN Titin 1 1 dilated cardiomyopathy 0.0
P78527 PRKDC DNA-dependent protein kinase catalytic subunit 1 3 severe combined immunodeficiency due to DNA-PKcs deficiency 0.0
P36969 GPX4 Phospholipid hydroperoxide glutathione peroxidase GPX4 1 5 spondylometaphyseal dysplasia, Sedaghatian type 0.0
O60315 ZEB2 Zinc finger E-box-binding homeobox 2 1 3 Mowat-Wilson syndrome 0.0
O75390 CS Citrate synthase, mitochondrial 1 1467 neurodegenerative disease 0.0
O75674 TOM1L1 TOM1-like protein 1 1 1 mitochondrial complex IV deficiency, nuclear type 23 0.0
O75821 EIF3G Eukaryotic translation initiation factor 3 subunit G 1 1 narcolepsy-cataplexy syndrome 0.0
O75828 CBR3 Carbonyl reductase [NADPH] 3 1 38 prostate carcinoma 0.0
O94923 GLCE D-glucuronyl C5-epimerase 1 1 Abnormality of the skeletal system 0.0
P09668 CTSH Pro-cathepsin H 1 1 type 1 diabetes mellitus 0.0
P09936 UCHL1 Ubiquitin carboxyl-terminal hydrolase isozyme L1 1 2 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0.0
P17096 HMGA1 High mobility group protein HMG-I/HMG-Y 1 4 HIV infection 0.0
P17252 PRKCA Protein kinase C alpha type 1 1 acute myeloid leukemia 0.0
P36959 GMPR GMP reductase 1 1 1 hypertrophic cardiomyopathy 0.0
P42680 TEC Tyrosine-protein kinase Tec 1 13 alopecia areata 0.0
P45973 CBX5 Chromobox protein homolog 5 1 2 Abnormality of the skeletal system 0.0
P48728 AMT Aminomethyltransferase, mitochondrial 1 6 glycine encephalopathy 0.0
P50897 PPT1 Palmitoyl-protein thioesterase 1 1 2 neuronal ceroid lipofuscinosis 1 0.0
P53701 HCCS Holocytochrome c-type synthase 1 3 Microphthalmia with linear skin defects syndrome 0.0
P55263 ADK Adenosine kinase 1 2 adenosine kinase deficiency 0.0
P57075 UBASH3A Ubiquitin-associated and SH3 domain-containing protein A 1 1 rheumatoid arthritis 0.0
P63172 DYNLT1 Dynein light chain Tctex-type 1 1 1 dengue disease 0.0
P83916 CBX1 Chromobox protein homolog 1 1 2 viral disease 0.0
P84103 SRSF3 Serine/arginine-rich splicing factor 3 1 2 open-angle glaucoma 0.0
Q00341 HDLBP Vigilin 1 2 dengue disease 0.0
Q06203 PPAT Amidophosphoribosyltransferase 1 1 rheumatoid arthritis 0.0
Q13043 STK4 Serine/threonine-protein kinase 4 1 1 combined immunodeficiency due to STK4 deficiency 0.0
Q13158 FADD FAS-associated death domain protein 1 3 FADD-related immunodeficiency 0.0
Q15366 PCBP2 Poly(rC)-binding protein 2 1 2 severe acute respiratory syndrome 0.0
Q5JSP0 FGD3 FYVE, RhoGEF and PH domain-containing protein 3 1 1 anaphylaxis 0.0
Q7L7L0 H2AC25 Histone H2A type 3 1 2 infectious disease 0.0
Q8WW12 PCNP PEST proteolytic signal-containing nuclear protein 1 1 asthma 0.0
Q96I24 FUBP3 Far upstream element-binding protein 3 1 1 ulna fracture 0.0
Q96PY5 FMNL2 Formin-like protein 2 1 1 open-angle glaucoma 0.0
Q9BUB7 TMEM70 Transmembrane protein 70, mitochondrial 1 2 mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 0.0
Q9H8M7 MINDY3 Ubiquitin carboxyl-terminal hydrolase MINDY-3 1 5 neuroendocrine neoplasm 0.0
Q9H8W4 PLEKHF2 Pleckstrin homology domain-containing family F member 2 1 1 Abnormality of the skeletal system 0.0
Q9UJY5 GGA1 ADP-ribosylation factor-binding protein GGA1 1 2 azoospermia 0.0
Q9ULQ1 TPCN1 Two pore channel protein 1 1 1 placental retention 0.0
Q9UPU5 USP24 Ubiquitin carboxyl-terminal hydrolase 24 1 1 metabolic disease 0.0
Q9Y646 CPQ Carboxypeptidase Q 1 1 risk-taking behaviour 0.0
A6NDG6 PGP Glycerol-3-phosphate phosphatase 1 18 neurodegenerative disease 0.0
O14578 CIT Citron Rho-interacting kinase 1 11 autosomal recessive primary microcephaly 0.0
O15021 MAST4 Microtubule-associated serine/threonine-protein kinase 4 1 1 Neurodevelopmental disorder 0.0
O60507 TPST1 Protein-tyrosine sulfotransferase 1 1 1 smoking initiation 0.0
O94900 TOX Thymocyte selection-associated high mobility group box protein TOX 1 2 neurodegenerative disease 0.0
P05165 PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial 1 1 propionic acidemia 0.0
P12270 TPR Nucleoprotein TPR 1 1 HIV infection 0.0
P21397 MAOA Amine oxidase [flavin-containing] A 1 2 Brunner syndrome 0.0
P35475 IDUA Alpha-L-iduronidase 1 1 Scheie syndrome 0.0
P39880 CUX1 Homeobox protein cut-like 1 1 1 global developmental delay with or without impaired intellectual development 0.0
P48637 GSS Glutathione synthetase 1 1 Glutathione synthetase deficiency 0.0
P49915 GMPS GMP synthase [glutamine-hydrolyzing] 1 2 lupus nephritis 0.0
P50502 ST13 Hsc70-interacting protein 1 2 neurodegenerative disease 0.0
P84090 ERH Enhancer of rudimentary homolog 1 1 neurodegenerative disease 0.0
Q08J23 NSUN2 RNA cytosine C(5)-methyltransferase NSUN2 1 1 autosomal recessive non-syndromic intellectual disability 0.0
Q13247 SRSF6 Serine/arginine-rich splicing factor 6 1 1 dengue disease 0.0
Q53H12 AGK Acylglycerol kinase, mitochondrial 1 1 Sengers syndrome 0.0
Q5VT25 CDC42BPA Serine/threonine-protein kinase MRCK alpha 1 2 neurodegenerative disease 0.0
Q6NUK1 SLC25A24 Mitochondrial adenyl nucleotide antiporter SLC25A24 1 1 Fontaine progeroid syndrome 0.0
P06276 BCHE Cholinesterase 1 13 butyrylcholinesterase deficiency  
Q13822 ENPP2 Autotaxin 1 2 Abnormality of the skeletal system  
P00751 CFB Complement factor B 1 3    
P02679 FGG Fibrinogen gamma chain 1 8 familial dysfibrinogenemia  
Q96QC4 MICA   1 7    
P07204 THBD Thrombomodulin 1 5 thrombomodulin-related bleeding disorder  
P19429 TNNI3 Troponin I, cardiac muscle 1 1 hypertrophic cardiomyopathy  
P82664 MRPS10 Small ribosomal subunit protein uS10m 1 9 neurodegenerative disease  
O60462 NRP2 Neuropilin-2 1 2 esophageal disease  
P45379 TNNT2 Troponin T, cardiac muscle 1 4 hypertrophic cardiomyopathy  
P82914 MRPS15 Small ribosomal subunit protein uS15m 1 9 neurodegenerative disease  
P08603 CFH Complement factor H 1 4 complement factor H deficiency  
Q15465 SHH Sonic hedgehog protein 1 4 holoprosencephaly 3  
P08174 CD55 Complement decay-accelerating factor 1 3 Protein-losing enteropathy  
P42345 MTOR Serine/threonine-protein kinase mTOR 1 27 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome  
P17181 IFNAR1 Interferon alpha/beta receptor 1 1 1 immunodeficiency 106, susceptibility to viral infections  
P26358 DNMT1 DNA (cytosine-5)-methyltransferase 1 1 12 autosomal dominant cerebellar ataxia, deafness and narcolepsy  
P08069 IGF1R Insulin-like growth factor 1 receptor 1 10 growth delay due to insulin-like growth factor I resistance  
P78324 SIRPA Tyrosine-protein phosphatase non-receptor type substrate 1 1 1 type 2 diabetes mellitus  
P57764 GSDMD Gasdermin-D 1 6 Oral ulcer  
P06729 CD2 T-cell surface antigen CD2 1 86 rheumatoid arthritis  
P06213 INSR Insulin receptor 1 14 Leprechaunism  
P02775 PPBP Platelet basic protein 1 3 neoplasm  
O00425 IGF2BP3 Insulin-like growth factor 2 mRNA-binding protein 3 1 1 neurodegenerative disease  
Q9HAU5 UPF2 Regulator of nonsense transcripts 2 1 2 autism spectrum disorder  
P01833 PIGR Polymeric immunoglobulin receptor 1 2 clear cell renal carcinoma  
P22087 FBL rRNA 2'-O-methyltransferase fibrillarin 1 6 neurodegenerative disease  
Q8N884 CGAS Cyclic GMP-AMP synthase 1 23 dengue disease  
Q13490 BIRC2 Baculoviral IAP repeat-containing protein 2 1 1 neurodegenerative disease  
P02545 LMNA Prelamin-A/C 1 1 dilated cardiomyopathy  
Q14457 BECN1 Beclin-1 1 1 neurodegenerative disease  
P50914 RPL14 Large ribosomal subunit protein eL14 1 1 influenza  
P14635 CCNB1 G2/mitotic-specific cyclin-B1 1 1 neurodegenerative disease  
Q16790 CA9 Carbonic anhydrase 9 1 1 epilepsy  
P01584 IL1B Interleukin-1 beta 1 8 cryopyrin-associated periodic syndrome  
Q08345 DDR1 Epithelial discoidin domain-containing receptor 1 1 1    
P53999 SUB1 Activated RNA polymerase II transcriptional coactivator p15 1 1 breast carcinoma  
Q9NQX4 MYO5C Unconventional myosin-Vc 1 1 type 2 diabetes mellitus  
P08575 PTPRC Receptor-type tyrosine-protein phosphatase C 1 1 immunodeficiency 104  
P24928 POLR2A DNA-directed RNA polymerase II subunit RPB1 1 1    
Q16832 DDR2 Discoidin domain-containing receptor 2 1 1 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome  
P02649 APOE Apolipoprotein E 1 41 coronary artery disease  
Q9H0M0 WWP1 NEDD4-like E3 ubiquitin-protein ligase WWP1 1 1 gout  
P02511 CRYAB Alpha-crystallin B chain 1 2 myofibrillar myopathy 2  
P20936 RASA1 Ras GTPase-activating protein 1 1 1 capillary malformation-arteriovenous malformation 1  
P01130 LDLR Low-density lipoprotein receptor 1 18 hypercholesterolemia, familial, 1  
P04637 TP53 Cellular tumor antigen p53 1 13 Li-Fraumeni syndrome  
P30530 AXL Tyrosine-protein kinase receptor UFO 1 22 acute myeloid leukemia  
P37840 SNCA Alpha-synuclein 1 62 Hereditary late-onset Parkinson disease  
Q9BVP2 GNL3 Guanine nucleotide-binding protein-like 3 1 1 neurodegenerative disease  
O14965 AURKA Aurora kinase A 1 2 neurodegenerative disease  
Q9NTG7 SIRT3 NAD-dependent protein deacetylase sirtuin-3, mitochondrial 1 1 uterine fibroid  
O60502 OGA Protein O-GlcNAcase 1 1 atrial fibrillation  
O75533 SF3B1 Splicing factor 3B subunit 1 1 1 chronic lymphocytic leukemia  
Q8WTT2 NOC3L Nucleolar complex protein 3 homolog 1 1 hypertension  
P11388 TOP2A DNA topoisomerase 2-alpha 1 1 neoplasm  
P40189 IL6ST Interleukin-6 receptor subunit beta 1 2 Autosomal recessive hyper-IgE syndrome  
P24821 TNC Tenascin 1 49 autosomal dominant nonsyndromic hearing loss  
P33316 DUT Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial 1 1 bone marrow failure and diabetes mellitus syndrome  
Q05397 PTK2 Focal adhesion kinase 1 1 3 neurodegenerative disease  
P05455 SSB Lupus La protein 1 17 neurodegenerative disease  
P98170 XIAP E3 ubiquitin-protein ligase XIAP 1 4 X-linked lymphoproliferative disease  
P22607 FGFR3 Fibroblast growth factor receptor 3 1 6 achondroplasia  
P11362 FGFR1 Fibroblast growth factor receptor 1 1 13 hypogonadotropic hypogonadism 2 with or without anosmia  
Q9Y3A5 SBDS Ribosome maturation protein SBDS 1 1 Shwachman-Diamond syndrome  
Q08945 SSRP1 FACT complex subunit SSRP1 1 1 HIV infection  
P17931 LGALS3 Galectin-3 1 4 Arthropathy  
P21802 FGFR2 Fibroblast growth factor receptor 2 1 5 Crouzon syndrome  
P26045 PTPN3 Tyrosine-protein phosphatase non-receptor type 3 1 2 stomach disease  
Q13153 PAK1 Serine/threonine-protein kinase PAK 1 1 2 intellectual developmental disorder with macrocephaly, seizures, and speech delay  
P07602 PSAP Prosaposin 1 1 Gaucher disease due to saposin C deficiency  
P22455 FGFR4 Fibroblast growth factor receptor 4 1 2 cancer  
P21580 TNFAIP3 Tumor necrosis factor alpha-induced protein 3 1 2 autoinflammatory syndrome, familial, Behcet-like 1  
P59665 DEFA1 Neutrophil defensin 1 1 2 IGA glomerulonephritis  
Q15075 EEA1 Early endosome antigen 1 1 1 neuroinflammatory disorder  
Q15303 ERBB4 Receptor tyrosine-protein kinase erbB-4 1 3 non-small cell lung carcinoma  
P26368 U2AF2 Splicing factor U2AF 65 kDa subunit 1 2 developmental delay, dysmorphic facies, and brain anomalies  
P78504 JAG1 Protein jagged-1 1 4 Alagille syndrome due to a JAG1 point mutation  
Q92888 ARHGEF1 Rho guanine nucleotide exchange factor 1 1 6 immunodeficiency 62  
P07988 SFTPB Pulmonary surfactant-associated protein B 1 1 Neonatal acute respiratory distress with surfactant metabolism deficiency  
P11717 IGF2R Cation-independent mannose-6-phosphate receptor 1 5 coronary artery disease  
P19838 NFKB1 Nuclear factor NF-kappa-B p105 subunit 1 2 common variable immunodeficiency  
P55884 EIF3B Eukaryotic translation initiation factor 3 subunit B 1 2 injury  
Q92900 UPF1 Regulator of nonsense transcripts 1 1 1 Global developmental delay  
Q9H6X2 ANTXR1 Anthrax toxin receptor 1 1 2 GAPO syndrome  
Q07817 BCL2L1 Bcl-2-like protein 1 1 6 neurodegenerative disease  
P10515 DLAT Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial 1 1 pyruvate dehydrogenase E2 deficiency  
Q04206 RELA Transcription factor p65 1 14 mucocutaneous ulceration, chronic  
O00443 PIK3C2A Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 1 1 oculocerebrodental syndrome  
P58335 ANTXR2 Anthrax toxin receptor 2 1 4 hyaline fibromatosis syndrome  
Q86UW9 DTX2 Probable E3 ubiquitin-protein ligase DTX2 1 3 neurodegenerative disease  
Q12797 ASPH Aspartyl/asparaginyl beta-hydroxylase 1 2 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome  
Q9NNX6 CD209 CD209 antigen 1 1 dengue disease  
P35968 KDR Vascular endothelial growth factor receptor 2 1 22 neoplasm  
P19438 TNFRSF1A Tumor necrosis factor receptor superfamily member 1A 1 1 TNF receptor 1-associated periodic fever syndrome  
Q07955 SRSF1 Serine/arginine-rich splicing factor 1 1 1 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities  
P30050 RPL12 Large ribosomal subunit protein uL11 1 1 influenza  
P24592 IGFBP6 Insulin-like growth factor-binding protein 6 1 2 hypertension  
Q13554 CAMK2B Calcium/calmodulin-dependent protein kinase type II subunit beta 1 2 intellectual disability, autosomal dominant 54  
P01133 EGF Pro-epidermal growth factor 1 34 cancer  
P09038 FGF2 Fibroblast growth factor 2 1 53 cancer  
P11836 MS4A1 B-lymphocyte antigen CD20 1 2 chronic lymphocytic leukemia  
Q9Y3T9 NOC2L Nucleolar complex protein 2 homolog 1 1 neurodegenerative disease  
P29590 PML Protein PML 1 5 uterine fibroid  
Q13563 PKD2 Polycystin-2 1 3 polycystic kidney disease 2  
Q13546 RIPK1 Receptor-interacting serine/threonine-protein kinase 1 1 2 immunodeficiency 57  
Q06787 FMR1 Fragile X messenger ribonucleoprotein 1 1 9 fragile X syndrome  
Q8N163 CCAR2 Cell cycle and apoptosis regulator protein 2 1 5 Abnormality of refraction  
P22004 BMP6 Bone morphogenetic protein 6 1 1 Tangier disease  
P55265 ADAR Double-stranded RNA-specific adenosine deaminase 1 8 Aicardi-Goutieres syndrome 6  
P27448 MARK3 MAP/microtubule affinity-regulating kinase 3 1 2 cancer  
B7Z5N5 SMAD2 Mothers against decapentaplegic homolog 1 7 Loeys-Dietz syndrome 6  
Q13123 IK Protein Red 1 4 mitochondrial complex I deficiency, nuclear type 13  
O75381 PEX14 Peroxisomal membrane protein PEX14 1 1 Zellweger syndrome  
P09651 HNRNPA1 Heterogeneous nuclear ribonucleoprotein A1 1 9 amyotrophic lateral sclerosis  
P04049 RAF1 RAF proto-oncogene serine/threonine-protein kinase 1 4 Noonan syndrome  
P23246 SFPQ Splicing factor, proline- and glutamine-rich 1 4 tuberculosis  
P05067 APP Amyloid-beta precursor protein 1 63 Alzheimer disease  
P04004 VTN Vitronectin 1 10 hypertension  
Q13501 SQSTM1 Sequestosome-1 1 4 amyotrophic lateral sclerosis  
Q13283 G3BP1 Ras GTPase-activating protein-binding protein 1 1 2 neurodegenerative disease  
Q16637 SMN1 Survival motor neuron protein 1 1 Proximal spinal muscular atrophy type 3  
Q14498 RBM39 RNA-binding protein 39 1 1 neurodegenerative disease  
Q9UHD8 SEPTIN9 Septin-9 1 1 neuralgic amyotrophy  
Q9NR56 MBNL1 Muscleblind-like protein 1 1 3 type 2 diabetes mellitus  
P15056 BRAF Serine/threonine-protein kinase B-raf 1 6 cardiofaciocutaneous syndrome  
Q92879 CELF1 CUGBP Elav-like family member 1 1 3 Abnormality of the skeletal system  
P01042 KNG1 Kininogen-1 1 3 congenital high-molecular-weight kininogen deficiency  
O14976 GAK Cyclin-G-associated kinase 1 1 Parkinson disease  
O95819 MAP4K4 Mitogen-activated protein kinase kinase kinase kinase 4 1 1 neurodegenerative disease  
Q13263 TRIM28 Transcription intermediary factor 1-beta 1 1 Wilms tumor  
Q13148 TARDBP TAR DNA-binding protein 43 1 7 amyotrophic lateral sclerosis  
Q13164 MAPK7 Mitogen-activated protein kinase 7 1 2 self-injurious ideation  
P49023 PXN Paxillin 1 1 atrial fibrillation  
P61978 HNRNPK Heterogeneous nuclear ribonucleoprotein K 1 3 Au-Kline syndrome  
P42224 STAT1 Signal transducer and activator of transcription 1-alpha/beta 1 5 Chronic mucocutaneous candidosis  
Q9NQX5 NPDC1 Neural proliferation differentiation and control protein 1 1 2 neurodegenerative disease  
O00187 MASP2 Mannan-binding lectin serine protease 2 1 1 immunodeficiency due to MASP-2 deficiency