id,gene_symbol,protein_name,in_cev_map,aptamer_count_pubmed,opentargets_top_disease_name,priority_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,