id,gene_symbol,protein_name,tier,evidence_priority,has_structure,surface_class,pdb_count_total,alphafold_mean_pLDDT,has_cryoEM,has_activation_state_pdb_pair,activation_state_pdb_active,activation_state_pdb_inactive,has_known_aptamer,aptamer_count_pubmed,aptamer_pmids,in_cev_map,opentargets_top_disease_name,opentargets_top_disease_score
P00451,F8,Coagulation factor VIII,Tier 1,0.873,1,A_assoc,25,60.75,1,0,,,1,13,"40727755,40266188,28791655,21144556,41587892,40009491,38992298,38752747,31493779,29609491,28979328,21389323,20589313",1,hemophilia A,0.9108044347811838
P12883,MYH7,Myosin-7,Tier 1,0.871,1,A_assoc,43,74.25,1,0,,,0,0,,1,hypertrophic cardiomyopathy,0.9029865147265421
P02452,COL1A1,Collagen alpha-1(I) chain,Tier 1,0.854,1,A_assoc,14,52.72,1,0,,,1,3,"40407197,35905589,15132764",1,osteogenesis imperfecta type 2,0.8471150130101988
P45379,TNNT2,"Troponin T, cardiac muscle",Tier 1,0.85,1,A_assoc,25,78.31,1,0,,,1,4,"41020397,40313273,31782481,30979922",1,hypertrophic cardiomyopathy,0.8329996050513441
P04180,LCAT,Phosphatidylcholine-sterol acyltransferase,Tier 1.5,0.848,1,A_assoc,7,86.75,1,0,,,0,0,,1,Fish-eye disease,0.8273460309828392
P00747,PLG,Plasminogen,Tier 1,0.847,1,A_assoc,49,82.81,1,0,,,1,51,"24641476,41699153,41371773,41335958,38963794,37533140,37360033,37149949,36882463,36859809,36358641,36203210,36156780,35715131,35563278,35197258,33918821,33859620,33674695,32199927,31870256,30197987,30015643,28051346,27813404,27755560,27679852,26926041,26876003,26163061,25855589,25793507,25620243,25582325,24922319,24682699,24138169,24012635,23038812,22103403,21147843,21142878,20962041,20594164,20387790,20050927,19485299,19284310,18713263,15560078,15303967",1,hypoplasminogenemia,0.8240321266100769
P07225,PROS1,Vitamin K-dependent protein S,Tier 1.5,0.847,1,A_assoc,3,82.94,1,0,,,1,2,"36859809,33674695",1,"thrombophilia due to protein S deficiency, autosomal dominant",0.8240418292042652
Q15582,TGFBI,Transforming growth factor-beta-induced protein ig-h3,Tier 1.5,0.847,1,A_assoc,10,90.25,1,0,,,0,0,,1,lattice corneal dystrophy type I,0.8242841141270143
P02649,APOE,Apolipoprotein E,Tier 1,0.845,1,A_assoc,29,75.5,1,0,,,1,41,"41437270,41316897,41276911,40501769,38895620,38559166,38397086,38377941,38256230,36980195,36579647,35966595,35869074,35415203,35359181,34814699,34757788,34016094,31878307,31461490,31385390,29258991,24589243,22110600,41505229,40429697,39939919,36048760,32831200,30613278,29214237,24121966",1,coronary artery disease,0.81626595063263
P07942,LAMB1,Laminin subunit beta-1,Tier 1.5,0.84,1,A_assoc,3,76.69,1,0,,,0,0,,1,cobblestone lissencephaly without muscular or ocular involvement,0.8016665947624902
P12259,F5,Coagulation factor V,Tier 1,0.839,1,A_assoc,17,61.91,1,0,,,1,4,"32696338,15496523,24629635,17878169",1,thrombophilia due to activated protein C resistance,0.7962069693286362
P00488,F13A1,Coagulation factor XIII A chain,Tier 1,0.838,1,A_assoc,15,90.88,1,0,,,0,0,,1,Factor XIII subunit A deficiency,0.7939842013132387
P10643,C7,Complement component C7,Tier 1,0.836,1,A_assoc,8,79.94,1,0,,,1,14,"39226699,36428893,35247355,33334063,29846697,29594379,26947566,26057195,24641476,23657986,22058017,15687383,13129354,12169610",1,Immunodeficiency due to a late component of complements deficiency,0.7859621873711432
P39060,COL18A1,Collagen alpha-1(XVIII) chain,Tier 1.5,0.836,1,A_assoc,9,50.62,1,0,,,1,2,"36707842,23679916",1,Knobloch syndrome 1,0.7867122552672962
A6XGL2,INS,Insulin,Tier 1,0.835,1,A_assoc,2,47.72,1,0,,,1,243,"40789983,40321580,39657876,39296939,38682836,38513471,36239972,36120079,35749972,35745014,35573794,34538325,33802772,32831200,31924009,31627812,31594568,31465835,31407274,31165873,31147037,30965174,30794054,30639182,29527194,26994877,26588795,25976342,25549616,24871672,24763820,23831227,22740651,22438927,21520951,18539116,18374645,15324817,15256575,11557344,11306470,41699153,41648807,41574708,41325160,41307103,41297941,41283885,41280530,41226313,41217025,41107610,40997970,40603733,40591341,40554308,40519041,40380000,40243681,40125440,39847085,39616898,39602324,39546403,39366648,39317671,39263947,39225423,39029996,38928037,38811951,38809225,38794182,38760847,38585969,38497478,38477735,38397086,38384162,38256230,38172533,38082853,38060303,38059276,38039734,37982669,37779149,37772688,37566081",1,"diabetes mellitus, permanent neonatal 4",0.784300463357018
P35858,IGFALS,Insulin-like growth factor-binding protein complex acid labile subunit,Tier 1.5,0.833,1,A_assoc,1,90.56,1,0,,,0,0,,1,Reduced insulin like growth factor binding protein acid labile subunit concentration,0.7760522769257892
P02647,APOA1,Apolipoprotein A-I,Tier 1,0.832,1,A_assoc,32,73.56,1,0,,,1,10,"41773457,38397086,36756582,36340071,31493779,35517584,24008390,41925578,30834248",1,"hypoalphalipoproteinemia, primary, 2",0.7727382344191134
P02787,TF,Serotransferrin,Tier 1,0.832,1,A_assoc,66,93.12,1,0,,,1,114,"41863075,41824296,41799016,41495882,41477872,41473960,41261862,40903577,40848288,40677726,40598892,40491004,40205063,39794309,39713350,39644990,39605729,39605530,39605368,39605320,39519666,39374798,39271116,39117705,39082193,38776649,38568408,38517697,38352411,38293094,38130056,37769388,37480814,37387534,37219924,37190227,37177995,36797351,36778047,36636745,36334191,36200779,35811788,35668324,35659235,34755879,34534646,34524404,34465294,34448158",1,atransferrinemia,0.7724190608888654
P02748,C9,Complement component C9,Tier 1.5,0.829,1,A_assoc,9,78.75,1,0,,,1,10,"41636061,40411682,36428893,36290981,35247355,28794177,27836219,22678933,19261617,15687383",1,Immunodeficiency due to a late component of complements deficiency,0.761965409699055
O15230,LAMA5,Laminin subunit alpha-5,Tier 1.5,0.828,1,A_assoc,2,79.12,1,0,,,0,0,,1,"nephrotic syndrome, IIa 26",0.7594872666460903
P27918,CFP,Properdin,Tier 1,0.828,1,A_assoc,14,83.31,1,0,,,1,18,"40359808,39744100,33965026,31473812,28454652,26513286,24968239,23056492,22189104,12678711,41155459,40243681,37566081,36619572,34183667,32366845,31482734,28104543",1,Properdin deficiency,0.7610265174382485
P13671,C6,Complement component C6,Tier 1,0.826,1,A_assoc,11,79.62,1,0,,,1,31,"41255414,39736202,39680325,38188151,36290981,36165950,34535250,33034309,32414072,32119944,31819445,30039760,29594379,29408200,28024568,27940247,26588795,26316749,26107993,24512500,24309623,23657986,22973579,22527269,21944470,21788069,21645749,21071077,20008986,19469583,15473710",1,Immunodeficiency due to a late component of complements deficiency,0.75437296887129
P01042,KNG1,Kininogen-1,Tier 1,0.824,1,A_assoc,19,65.88,1,0,,,1,3,"34248840,36980195",1,congenital high-molecular-weight kininogen deficiency,0.7480490551878497
O60568,PLOD3,Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3,Tier 1.5,0.815,1,A_assoc,18,91.38,1,0,,,0,0,,1,"bone fragility with contractures, arterial rupture, and deafness",0.7159150369336311
P03952,KLKB1,Plasma kallikrein,Tier 1,0.812,1,A_assoc,22,87.88,1,0,,,1,6,"40008515,36859809,33674695,28959386,28632925,23692437",1,inherited prekallikrein deficiency,0.7077440022291496
P02768,ALB,Albumin,Tier 1,0.81,1,A_assoc,100,92.69,1,0,,,1,428,"40380000,38959435,38585969,38071774,33334063,27886058,42008845,41963275,41951078,41943241,41853972,41730466,41726995,41688234,41627846,41589449,41564481,41440282,41327249,41287526,41285542,41275719,41221651,41187986,41172700,41123957,41057289,41016289,40931580,40929740,40904334,40893093,40817942,40755409,40750470,40727755,40693866,40651419,40578264,40550187,40516722,40513168,40441110,40295020,40266188,40258621,40233536,40187290,40139042,40083648,40019314,39875991,39807818,39714093,39705506,39624124",1,hyperthyroxinemia,0.7006021736736501
P01189,POMC,Pro-opiomelanocortin,Tier 1,0.809,1,A_assoc,13,57.66,1,0,,,1,1,30161145,1,obesity due to pro-opiomelanocortin deficiency,0.6958797353500403
P09871,C1S,Complement C1s subcomponent,Tier 1,0.808,1,A_assoc,14,87.88,1,0,,,1,1,29635179,1,"Ehlers-Danlos syndrome, periodontal type 2",0.6936620421207419
P18206,VCL,Vinculin,Tier 1,0.808,1,A_assoc,37,86.56,1,0,,,1,4,"40321028,36107718,30929122,30697465",1,hypertrophic cardiomyopathy,0.6924271529635582
P23284,PPIB,Peptidyl-prolyl cis-trans isomerase B,Tier 1,0.799,1,A_assoc,8,91.81,1,0,,,1,3,"35999181,24152208,22484812",1,osteogenesis imperfecta type 9,0.6629329652595439
P48200,IREB2,Iron-responsive element-binding protein 2,Tier 1,0.799,1,A_assoc,1,86.75,1,0,,,0,0,,1,"neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia",0.664403876125082
P22004,BMP6,Bone morphogenetic protein 6,Tier 1,0.795,1,A_assoc,5,68.94,1,0,,,1,1,24808863,1,Tangier disease,0.6511246985190833
P02745,C1QA,Complement C1q subcomponent subunit A,Tier 1,0.79,1,A_assoc,11,82.62,1,0,,,0,0,,1,C1Q deficiency 1,0.6319053256658114
P02747,C1QC,Complement C1q subcomponent subunit C,Tier 1,0.787,1,A_assoc,11,80.56,1,0,,,0,0,,1,C1Q deficiency,0.6233532074390745
P14210,HGF,Hepatocyte growth factor,Tier 1,0.777,1,A_assoc,36,83.5,1,0,,,1,64,"41873087,41601428,41123956,40189053,40041032,39853766,39355222,38963794,38923378,37965838,37075136,36935149,36826373,36477303,36126144,34424707,34165951,31967847,31825565,31595614,30444610,30353654,30312735,28627727,26658271,26592704,25223895,23615526,21546514,20594164,16225393,38925633,38876234,34142433,31381313,30237882,29944203,29416033,27679852,27363484,26131766,11753087",1,"hearing loss, autosomal recessive",0.5910507391848663
Q99988,GDF15,Growth/differentiation factor 15,Tier 1.5,0.775,1,A_assoc,4,75.69,1,0,,,1,29,"41924874,41862097,38879214,38477735,37982669,36927042,36638554,36508319,36333824,35762561,33334063,32527800,31988066,29992704,39884764,38497478,38296402,37162508,32739349,30335547",1,hyperemesis gravidarum,0.5821658682742563
P00738,HP,Haptoglobin,Tier 1,0.771,1,A_assoc,15,84.81,1,0,,,1,76,"41855944,41638958,40968672,40231802,39880691,39880501,39835381,39804483,39788927,39613489,39435559,38585969,38545293,38218089,38185050,38047083,38039678,37879039,37701520,37696275,37560929,37104434,36863194,36564526,36291832,36201958,35868696,35686646,35439614,35394406,35195734,35081018,34647930,34556234,34520834,34064911,34038999,33896635,33534888,33404555,33395442,33234387,33214769,33131243,31892078,31820139,31665673,31655906,31655383,31494507,38916796,34183667,34117903",1,Hypercholesterolemia,0.5684135700226365
P10646,TFPI,Tissue factor pathway inhibitor,Tier 1.5,0.768,1,A_assoc,9,73.62,1,0,,,1,28,"32366845,32224381,30994257,30302740,27563744,27196067,24263002,23528042,22951415,22658294,22632032,22239993,21696535,21389323,8578509,25521966,24319161",1,hemophilia A,0.5591056672248635
P02771,AFP,Alpha-fetoprotein,Tier 1.5,0.765,1,A_assoc,5,88.94,1,0,,,1,195,"41849903,41732103,41688234,41327249,41051792,40839965,40750207,40684729,40578247,40383027,40381048,40347636,40262341,40216053,39982565,39942588,39890683,39771616,39479488,39383727,39305942,39167423,39140150,39082193,39067928,39007743,38904836,38852341,38356334,37836778,37709445,37606762,37366993,37303825,37295202,37284243,37228865,37104032,36989661,36979562,36842207,36693188,36512161,36389169,36290918,36240195,36130652,35969067,35793076,35747812,41637558,41575587,41123957,41103270,40349714,40286895,38899396,37325361",1,Congenital deficiency in alpha-fetoprotein,0.5500580170557311
A8K2U0,A2ML1,Alpha-2-macroglobulin-like protein 1,Tier 1,0.764,1,A_assoc,5,80.5,1,0,,,0,0,,1,Otitis media,0.5479914512784171
Q08043,ACTN3,Alpha-actinin-3,Tier 1,0.752,1,A_assoc,3,84.19,1,0,,,0,0,,1,Abnormality of the skeletal system,0.5080072819822437
P02788,LTF,Lactotransferrin,Tier 1,0.751,1,A_assoc,34,94.94,1,0,,,1,3,"33534888,33398328,30340834",1,tuberculosis,0.5046393442671729
P05161,ISG15,Ubiquitin-like protein ISG15,Tier 1,0.74,1,A_assoc,22,85.88,1,0,,,0,0,,1,COVID-19,0.4668295741563516
Q99969,RARRES2,Retinoic acid receptor responder protein 2,Tier 1,0.739,1,A_assoc,12,86.31,1,0,,,1,2,"38238732,31878307",1,Abnormality of the skeletal system,0.4617522712277723
Q9BVC4,MLST8,Target of rapamycin complex subunit LST8,Tier 1,0.733,1,A_assoc,45,91.62,1,0,,,0,0,,1,neurodegenerative disease,0.4440338170862142
Q12884,FAP,Prolyl endopeptidase FAP,Tier 1,0.721,1,A_assoc,4,95.62,1,0,,,1,7,"40046817,39710916,39026723,37192373,36838669,36494579,35879297",1,psoriasis,0.40173767366839236
P05109,S100A8,Protein S100-A8,Tier 1,0.711,1,A_assoc,13,93.06,1,0,,,1,5,"41654945,41111484,32964813,32478041,22353892",1,inborn error of immunity,0.37050380432141355
P24593,IGFBP5,Insulin-like growth factor-binding protein 5,Tier 1.5,0.711,1,A_assoc,3,76.06,1,0,,,1,4,"39317671,31930684",1,hypothyroidism,0.3702458751451027
Q00604,NDP,Norrin,Tier 1.5,0.707,1,A_assoc,11,83.56,1,0,,,1,2,"39057719,11352723",0,Norrie disease,0.8566451682188412
O43866,CD5L,CD5 antigen-like,Tier 1.5,0.706,1,A_assoc,4,85.88,1,0,,,1,3,"40215752,37100807",1,functional neutrophil defect,0.3529395470693119