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
P21359,NF1,Neurofibromin,Tier 1.5,0.965,1,A_surface,26,87.19,1,0,,,1,2,"32980430,22617876",1,neurofibromatosis type 1,0.8844735398780649
P33897,ABCD1,ATP-binding cassette sub-family D member 1,Tier 1,0.96,1,A_surface,14,80.62,1,0,,,0,0,,1,adrenoleukodystrophy,0.8656366512509434
P04839,CYBB,NADPH oxidase 2,Tier 1,0.959,1,A_surface,6,90.25,1,0,,,1,2,24635113,1,chronic granulomatous disease,0.8633132852459866
P21802,FGFR2,Fibroblast growth factor receptor 2,Tier 1,0.959,1,A_surface,62,73.94,0,0,,,1,5,"41786503,39759879,31357131,24242861,19212647",1,Crouzon syndrome,0.8637438969881663
P78504,JAG1,Protein jagged-1,Tier 1,0.958,1,A_surface,7,73.12,0,0,,,1,4,"37338014,37052638,23341879,18673242",1,Alagille syndrome due to a JAG1 point mutation,0.8586542923232751
P00813,ADA,Adenosine deaminase,Tier 1.5,0.957,1,A_surface,2,96.56,0,0,,,1,72,"42012076,41877526,41762796,41635914,40403280,40189053,39856849,39847085,36796307,33998617,32043202,30876536,30060448,27589406,26606306,25597304,25521724,25360869,24976151,24893272,24682016,24035856,23462984,23202335,23037591,22944024,22613226,41910181,41791686,41267360,39673485,39396299,38583236,36855421,34241023,33147453,32546280,30926472,26605646,24624989,23373863,22543727,20345118,19381549,19378312,18293985,17440909,17000903,16856187,16619330",1,Severe combined immunodeficiency due to adenosine deaminase deficiency,0.8556816060494579
P11166,SLC2A1,"Solute carrier family 2, facilitated glucose transporter member 1",Tier 1,0.956,1,A_surface,5,90.25,0,0,,,1,2,"39627234,33184583",1,encephalopathy due to GLUT1 deficiency,0.8521823225896756
P36021,SLC16A2,Monocarboxylate transporter 8,Tier 1.5,0.956,1,A_surface,7,79.56,1,0,,,0,0,,1,Allan-Herndon-Dudley syndrome,0.8533069932022032
P51795,CLCN5,H(+)/Cl(-) exchange transporter 5,Tier 1.5,0.955,1,A_surface,2,80.62,0,0,,,0,0,,1,Dent disease type 1,0.850724240157394
P29965,CD40LG,CD40 ligand,Tier 1,0.954,1,A_surface,8,82.62,1,0,,,1,6,"37331977,36203210,26504624",1,hyper-IgM syndrome type 1,0.8451678829647167
P11362,FGFR1,Fibroblast growth factor receptor 1,Tier 1,0.954,1,A_surface,82,73.88,0,0,,,1,13,"41873087,41820318,40092750,39759879,39249203,37336759,33536494,31583159,31357131,30297602,28442904",1,hypogonadotropic hypogonadism 2 with or without anosmia,0.8472925100660907
Q9NQ11,ATP13A2,Polyamine-transporting ATPase 13A2,Tier 1,0.953,1,A_surface,25,79.62,1,0,,,0,0,,1,Kufor-Rakeb syndrome,0.8439049037191295
P08581,MET,Hepatocyte growth factor receptor,Tier 1,0.953,1,A_surface,100,79.25,0,0,,,1,149,"42012469,41992303,41973478,41873087,41861669,41858296,41848278,41601428,41462891,41391726,41234744,41123956,41084363,41065179,41024479,40954195,40938088,40923343,40840349,40740738,40728393,40640119,40388621,40189053,40116812,40041032,39930702,39853766,39852082,39744222,39735310,39674868,39631842,39586988,39527480,39513807,39355222,39348183,39288204,39087949,38925633,38923378,38876234,38829176,38697444,38515622,38298092,38277932,38230289,38225704,30237882,29416033,26131766",1,papillary renal cell carcinoma,0.84195976263742
P06213,INSR,Insulin receptor,Tier 1,0.953,1,A_surface,87,77.62,0,0,,,1,14,"33410883,24768638,40603733,37779149,36310231,35478209,29262294,27648925,26387957,26245346,19396447,17167487",1,Leprechaunism,0.8448849372402896
Q8WZ42,TTN,Titin,Tier 1,0.953,1,A_surface,64,,0,0,,,1,1,29952259,1,dilated cardiomyopathy,0.8419847660466327
Q14524,SCN5A,Sodium channel protein type 5 subunit alpha,Tier 1.5,0.953,1,A_surface,16,67.25,1,0,,,0,0,,1,long QT syndrome 3,0.8448298602976083
Q969N2,PIGT,GPI-anchor transamidase component PIGT,Tier 1.5,0.953,1,A_surface,3,87.25,1,0,,,0,0,,1,multiple congenital anomalies-hypotonia-seizures syndrome 3,0.8439030764005646
P13637,ATP1A3,Sodium/potassium-transporting ATPase subunit alpha-3,Tier 1.5,0.953,1,A_surface,5,88.81,1,0,,,0,0,,1,alternating hemiplegia of childhood 2,0.842328126568451
P37173,TGFBR2,TGF-beta receptor type-2,Tier 1,0.952,1,A_surface,22,81.0,1,0,,,1,8,"32452828,30595527,29522674,29375127,26284552,23999222,22899759,11856769",1,Loeys-Dietz syndrome,0.8390072008866913
P35499,SCN4A,Sodium channel protein type 4 subunit alpha,Tier 1,0.952,1,A_surface,3,72.44,1,0,,,0,0,,1,paramyotonia congenita of Von Eulenburg,0.8401628899371881
Q99250,SCN2A,Sodium channel protein type 2 subunit alpha,Tier 1.5,0.952,1,A_surface,5,68.81,1,0,,,0,0,,1,"developmental and epileptic encephalopathy, 11",0.8388748085806758
O00571,DDX3X,ATP-dependent RNA helicase DDX3X,Tier 1,0.951,1,A_surface,17,72.19,0,0,,,0,0,,1,X-linked non-syndromic intellectual disability,0.8362533125067105
P19438,TNFRSF1A,Tumor necrosis factor receptor superfamily member 1A,Tier 1,0.951,1,A_surface,13,71.38,1,0,,,1,1,35197258,1,TNF receptor 1-associated periodic fever syndrome,0.8352778213184682
P25189,MPZ,Myelin protein P0,Tier 1.5,0.951,1,A_surface,2,81.69,0,0,,,0,0,,1,Charcot-Marie-Tooth disease type 1B,0.8377022197539885
P54760,EPHB4,Ephrin type-B receptor 4,Tier 1,0.95,1,A_surface,23,82.0,0,0,,,0,0,,1,Capillary malformation - arteriovenous malformation,0.8317426466005666
P07359,GP1BA,Platelet glycoprotein Ib alpha chain,Tier 1,0.95,1,A_surface,22,64.31,1,0,,,0,0,,1,Bernard-Soulier syndrome,0.8346884735388165
Q9HAB3,SLC52A2,"Solute carrier family 52, riboflavin transporter, member 2",Tier 1.5,0.95,1,A_surface,1,84.12,1,0,,,0,0,,1,riboflavin transporter deficiency,0.8333271825486935
Q9Y653,ADGRG1,Adhesion G-protein coupled receptor G1,Tier 1.5,0.95,1,A_surface,1,77.88,1,0,,,0,0,,1,bilateral frontoparietal polymicrogyria,0.8322298896713178
P06744,GPI,Glucose-6-phosphate isomerase,Tier 1,0.949,1,A_surface,13,97.94,1,0,,,1,19,"41911185,41329468,41232387,35821507,34953205,32730952,29501157,27419372,25919296,25483705,24334484,23656757,23578283,23018995,22116094,20967861,17574575,27380815",1,hemolytic anemia due to glucophosphate isomerase deficiency,0.8306909118751346
Q9NRA2,SLC17A5,Sialin,Tier 1,0.949,1,A_surface,7,84.12,1,0,,,0,0,,1,"free sialic acid storage disease, infantile form",0.8292382821211967
P36888,FLT3,Receptor-type tyrosine-protein kinase FLT3,Tier 1.5,0.949,1,A_surface,11,75.94,0,0,,,1,6,"41733039,34364920,31434881,30237882,29299123,22411871",1,acute myeloid leukemia,0.8313389209288576
P63092,GNAS,Guanine nucleotide-binding protein G(s) subunit alpha isoforms short,Tier 1,0.948,1,A_surface,100,91.31,1,0,,,0,0,,1,pseudohypoparathyroidism type 1A,0.826829760867455
Q8WZA1,POMGNT1,"Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",Tier 1,0.948,1,A_surface,10,89.88,0,0,,,0,0,,1,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",0.826104223872448
P36897,TGFBR1,TGF-beta receptor type-1,Tier 1,0.948,1,A_surface,44,84.19,1,0,,,1,1,41089000,1,Loeys-Dietz syndrome 1,0.8275292516338373
P36894,BMPR1A,Bone morphogenetic protein receptor type-1A,Tier 1,0.948,1,A_surface,11,82.62,0,0,,,1,1,30537181,1,juvenile polyposis syndrome,0.8278395086688584
P22607,FGFR3,Fibroblast growth factor receptor 3,Tier 1,0.948,1,A_surface,13,74.19,1,0,,,1,6,"38569854,37704353,34864168,33952673,31357131",1,achondroplasia,0.8270702096931246
Q5JWF2,GNAS,Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas,Tier 1,0.948,1,A_surface,9,56.72,1,0,,,0,0,,1,pseudohypoparathyroidism type 1A,0.826829760867455
P13473,LAMP2,Lysosome-associated membrane glycoprotein 2,Tier 1.5,0.948,1,A_surface,2,83.19,0,0,,,0,0,,1,Glycogen Storage Disease Type 2b,0.8273010649608126
P16615,ATP2A2,Sarcoplasmic/endoplasmic reticulum calcium ATPase 2,Tier 1,0.947,1,A_surface,15,85.44,1,0,,,0,0,,1,Darier disease,0.8223208039299769
P04156,PRNP,Major prion protein,Tier 1,0.947,1,A_surface,70,64.19,1,0,,,1,2,"39556313,34067472",1,Gerstmann-Straussler-Scheinker syndrome,0.8246149684620239
Q13936,CACNA1C,Voltage-dependent L-type calcium channel subunit alpha-1C,Tier 1,0.947,1,A_surface,33,61.94,1,0,,,0,0,,1,Timothy syndrome,0.8227725490420764
P08514,ITGA2B,Integrin alpha-IIb,Positive Control,0.947,1,A_surface,78,88.12,1,1,8T2U,8T2V,0,0,,1,Glanzmann thrombasthenia 1,0.8224288672248264
P14770,GP9,Platelet glycoprotein IX,Tier 1.5,0.947,1,A_surface,2,84.69,1,0,,,0,0,,1,Bernard-Soulier syndrome,0.8233582238860002
P02730,SLC4A1,Band 3 anion transport protein,Tier 1,0.946,1,A_surface,54,82.12,1,0,,,0,0,,1,hereditary spherocytosis type 4,0.820137113225454
P05106,ITGB3,Integrin beta-3,Positive Control,0.946,1,A_surface,123,87.0,1,1,8T2U,8T2V,1,2,"22133781,23544955",1,Glanzmann thrombasthenia 1,0.8208115968652424
P08069,IGF1R,Insulin-like growth factor 1 receptor,Tier 1,0.945,1,A_surface,46,78.0,1,0,,,1,10,"40997970,39263947,33410883,30041514,23373648,16019422,15231297",1,growth delay due to insulin-like growth factor I resistance,0.8166352227841136
P16234,PDGFRA,Platelet-derived growth factor receptor alpha,Tier 1.5,0.945,1,A_surface,14,72.69,1,0,,,1,4,"33334063,32127469,28010895,30594071",1,gastrointestinal stromal tumor,0.8167494524079806
Q9H3H5,DPAGT1,UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase,Tier 1,0.943,1,A_surface,8,94.69,1,0,,,0,0,,1,DPAGT1-congenital disorder of glycosylation,0.8101246300555436
Q13563,PKD2,Polycystin-2,Tier 1,0.943,1,A_surface,31,70.12,1,0,,,1,3,"41315228,36126144",1,polycystic kidney disease 2,0.810960823768978
O75844,ZMPSTE24,CAAX prenyl protease 1 homolog,Tier 1,0.942,1,A_surface,4,89.44,0,0,,,1,1,37565451,1,mandibuloacral dysplasia with type B lipodystrophy,0.8071967390737101