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
P00740,F9,Coagulation factor IX,Tier 1,0.866,1,A_assoc,56,80.31,0,0,,,1,8,"41890362,40266188,12027891,41217381,35036063,34248840,24922332",1,hemophilia B,0.8880186703890781
P02461,COL3A1,Collagen alpha-1(III) chain,Tier 1,0.858,1,A_assoc,11,53.25,0,0,,,1,1,28453726,1,"Ehlers-Danlos syndrome, vascular type",0.8608667500207768
Q8NBP7,PCSK9,Proprotein convertase subtilisin/kexin type 9,Tier 1,0.858,1,A_assoc,62,85.19,0,0,,,1,23,"41924874,41707385,41683454,38796450,36579647,35817627,35388838,33177004,32884147,32415571,28544018,28265062,27679852,27397798,23770039",1,familial hypercholesterolemia,0.8604029080346239
P17405,SMPD1,Sphingomyelin phosphodiesterase,Tier 1,0.857,1,A_assoc,4,88.0,0,0,,,1,1,25027855,1,Niemann-Pick disease type A,0.8567797114449874
P08709,F7,Coagulation factor VII,Tier 1,0.856,1,A_assoc,100,82.12,0,0,,,1,4,"41980687,32224381,28496951,11127866",1,factor VII deficiency,0.8542078994169972
P01008,SERPINC1,Antithrombin-III,Tier 1,0.855,1,A_assoc,27,84.69,0,0,,,1,11,"32199927,31881749,31747245,25467079,25186782,24359968,23637781,18316185,15741074,10660541,10457984",1,hereditary antithrombin deficiency,0.8494671886642873
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
P02462,COL4A1,Collagen alpha-1(IV) chain,Tier 1.5,0.854,1,A_assoc,4,48.47,0,0,,,0,0,,1,brain small vessel disease 1 with or without ocular anomalies,0.84655287380359
P03951,F11,Coagulation factor XI,Tier 1,0.853,1,A_assoc,100,86.88,0,0,,,0,0,,1,factor XI deficiency,0.841884208404384
P02458,COL2A1,Collagen alpha-1(II) chain,Tier 1,0.85,1,A_assoc,11,52.12,0,0,,,1,1,33109602,1,spondyloepiphyseal dysplasia congenita,0.8334698564095305
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
P08246,ELANE,Neutrophil elastase,Tier 1,0.849,1,A_assoc,38,88.19,0,0,,,1,21,"33334063,41654945,40410820,39256809,38883770,37286041,31961667,30431231,29568464,29018540,28963578,28218835,23598134,22098163,20006085,10573123,9526554,9382799,9384527,9062133,8604313",1,cyclic hematopoiesis,0.8291093803980005
P00450,CP,Ceruloplasmin,Tier 1,0.848,1,A_assoc,4,93.69,0,0,,,1,130,"41993416,41853972,41782379,41733039,41546412,41440247,41422248,41147110,41031431,40961346,40915733,40828620,40706482,40658810,40580097,40335784,40174668,40050871,40015385,39998327,39960866,39909827,39710798,39630080,39494521,39285582,39030890,39030001,38676824,38427460,38342712,38299345,38230744,38168982,38096053,38060303,38046181,38014615,37812810,37659332,37639977,37323073,37219912,37169123,37148688,37074914,37058901,36959354,36857694,36768220",1,aceruloplasminemia,0.8279493326009644
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
P48740,MASP1,Mannan-binding lectin serine protease 1,Tier 1,0.846,1,A_assoc,9,90.44,0,0,,,1,2,"40371468,41587892",1,3MC syndrome 1,0.8185972518103526
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
P06276,BCHE,Cholinesterase,Tier 1,0.842,1,A_assoc,100,93.38,0,0,,,1,13,"32676787,26003847,39665919,36801730,36359944,33096123,32872771,32143069,31170561,30544018,24299064,12852840",1,butyrylcholinesterase deficiency,0.8051740584587205
P06396,GSN,Gelsolin,Tier 1,0.841,1,A_assoc,60,89.12,0,0,,,1,6,"41924874,39263947,31862877,28794177",1,Finnish type amyloidosis,0.8048371651382773
P02679,FGG,Fibrinogen gamma chain,Tier 1,0.84,1,A_assoc,48,85.5,0,0,,,1,8,"41962371,40850274,30091854,27530235,36859809,33674695,28549218,12871549",1,familial dysfibrinogenemia,0.8002311001712851
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
P20908,COL5A1,Collagen alpha-1(V) chain,Tier 1,0.839,1,A_assoc,1,51.25,0,0,,,0,0,,1,"Ehlers-Danlos syndrome, classic type, 1",0.7979601586599098
Q9BWP8,COLEC11,Collectin-11,Tier 1,0.839,1,A_assoc,3,78.31,0,0,,,0,0,,1,3MC syndrome 2,0.7977893521540559
P02671,FGA,Fibrinogen alpha chain,Tier 1,0.838,1,A_assoc,40,60.34,0,0,,,0,0,,1,familial dysfibrinogenemia,0.7947496460990987
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
P02675,FGB,Fibrinogen beta chain,Tier 1,0.837,1,A_assoc,42,84.06,0,0,,,1,1,40850274,1,congenital afibrinogenemia,0.7892438060719716
P22105,TNXB,Tenascin-X,Tier 1.5,0.837,1,A_assoc,3,87.81,0,0,,,0,0,,1,Ehlers-Danlos syndrome due to tenascin-X deficiency,0.7916412481554758
P03950,ANG,Angiogenin,Tier 1,0.836,1,A_assoc,56,89.81,0,0,,,1,99,"41948065,41736700,41688234,41686152,41625383,41551985,41550856,41338305,41194434,40839054,40825091,40233536,40046817,39891801,39871473,39727889,39700796,39226945,39078660,38458987,38282417,37683754,37585601,37556929,37527337,37367006,37284580,37185488,37100807,36520671,36315359,36291000,36087171,35731347,35489276,35408368,35290881,35218097,35084794,34987275,34964948,34902643,34617153,34523638,34500620,34474207,34464491,34439828,34350496,34232998,27841380,25461163,25422408,22018671,21774079,18585145,18533682,17260069,9578572",1,amyotrophic lateral sclerosis,0.7865457274017922
P08253,MMP2,72 kDa type IV collagenase,Tier 1,0.836,1,A_assoc,14,89.75,0,0,,,1,20,"38866788,38608631,37379799,36606583,35474272,34779093,33813091,33627152,33545845,33124760,32447200,32192327,30681205,30540162,30276134,30086306,24589243,23623988,22693611,18985031",1,Torg-Winchester syndrome,0.7862502046091417
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
P13645,KRT10,"Keratin, type I cytoskeletal 10",Tier 1,0.836,1,A_assoc,6,64.31,0,0,,,0,0,,1,"epidermolytic hyperkeratosis 2A, autosomal dominant",0.7860749239386174
P35609,ACTN2,Alpha-actinin-2,Tier 1,0.836,1,A_assoc,16,84.81,0,0,,,1,1,38497478,1,dilated cardiomyopathy 1AA,0.7856813926513253
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
Q14623,IHH,Indian hedgehog protein,Tier 1,0.836,1,A_assoc,8,84.31,0,0,,,1,1,18698484,1,brachydactyly type A1,0.7871957785711762
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
Q12904,AIMP1,Aminoacyl tRNA synthase complex-interacting multifunctional protein 1,Tier 1,0.834,1,A_assoc,6,81.12,0,0,,,0,0,,1,hypomyelinating leukodystrophy 3,0.7806847123659254
O43707,ACTN4,Alpha-actinin-4,Tier 1,0.833,1,A_assoc,5,84.12,0,0,,,0,0,,1,focal segmental glomerulosclerosis 1,0.7778533437264424
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
P00746,CFD,Complement factor D,Tier 1,0.832,1,A_assoc,40,91.0,0,0,,,1,4,"38057414,38071633,28972568,25727321",1,recurrent Neisseria infections due to factor D deficiency,0.7726408204424132
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
P35625,TIMP3,Metalloproteinase inhibitor 3,Tier 1.5,0.831,1,A_assoc,1,87.0,0,0,,,1,3,"42105605,36768220",1,Sorsby fundus dystrophy,0.7684253675298044
P07988,SFTPB,Pulmonary surfactant-associated protein B,Tier 1,0.83,1,A_assoc,9,73.06,0,0,,,1,1,35438610,1,Neonatal acute respiratory distress with surfactant metabolism deficiency,0.767375558073721
P01009,SERPINA1,Alpha-1-antitrypsin,Tier 1,0.829,1,A_assoc,46,88.62,0,0,,,1,12,"33534888,26070325,41021277,36980195,35581077,31747245,29065688,24121966,16242704,11584020,11017916",1,Alpha-1-antitrypsin deficiency,0.764279219769394
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