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
O95255,ABCC6,ATP-binding cassette sub-family C member 6,Tier 1.5,0.809,1,A_surface,4,80.94,0,0,,,0,0,,0,Pseudoxanthoma elasticum,0.864631668818611
P21439,ABCB4,Phosphatidylcholine translocator ABCB4,Tier 1.5,0.806,1,A_surface,4,83.25,1,0,,,0,0,,0,progressive familial intrahepatic cholestasis type 3,0.851728159166962
P31785,IL2RG,Cytokine receptor common subunit gamma,Tier 1.5,0.804,1,A_surface,14,75.5,1,0,,,1,2,"30800133,33869115",0,gamma chain deficiency,0.8469997000418428
Q9UM01,SLC7A7,Y+L amino acid transporter 1,Tier 1.5,0.804,1,A_surface,5,83.81,1,0,,,0,0,,0,lysinuric protein intolerance,0.8450026270275782
P08100,RHO,Rhodopsin,Tier 1.5,0.804,1,A_surface,4,88.75,1,0,,,1,45,"41963275,41924874,41636061,40808302,40642289,40330320,40045571,39863313,39788632,38070612,37191882,36705086,36696850,36095194,36049339,35622174,34709779,34471566,32696702,32479610,32319623,32119944,31737572,31588238,31535128,29570714,29281176,28648779,27893356,25645980,23757206,23701883,25033804,22689339,22302221,22121695,19766091,19389625,16419035,12123800,8743323,7678562,19188685,18230760",0,retinitis pigmentosa,0.8481942240861982
P48029,SLC6A8,Sodium- and chloride-dependent creatine transporter 1,Tier 1.5,0.804,1,A_surface,6,84.62,1,0,,,0,0,,0,creatine transporter deficiency,0.847268393806457
Q9UQD0,SCN8A,Sodium channel protein type 8 subunit alpha,Tier 1.5,0.803,1,A_surface,4,68.38,1,0,,,0,0,,0,"developmental and epileptic encephalopathy, 13",0.8437707419548253
O95342,ABCB11,Bile salt export pump,Tier 1.5,0.801,1,A_surface,8,83.12,1,0,,,1,1,36313979,0,progressive familial intrahepatic cholestasis type 2,0.8372060401943777
P78508,KCNJ10,ATP-sensitive inward rectifier potassium channel 10,Tier 1.5,0.801,1,A_surface,4,82.44,1,0,,,0,0,,0,EAST syndrome,0.8357483559927158
P30968,GNRHR,Gonadotropin-releasing hormone receptor,Tier 1.5,0.799,1,A_surface,1,84.19,0,0,,,0,0,,0,hypogonadotropic hypogonadism,0.83100005285263
Q16281,CNGA3,Cyclic nucleotide-gated channel alpha-3,Tier 1.5,0.799,1,A_surface,10,74.44,1,0,,,0,0,,0,achromatopsia,0.8315799021867489
P10912,GHR,Growth hormone receptor,Tier 1.5,0.799,1,A_surface,9,58.69,0,0,,,1,5,"38811951,38477735,31603904",0,Laron syndrome,0.8304020079647765
P13866,SLC5A1,Sodium/glucose cotransporter 1,Tier 1.5,0.797,1,A_surface,4,84.38,1,0,,,0,0,,0,glucose-galactose malabsorption,0.8220991027793896
Q04844,CHRNE,Acetylcholine receptor subunit epsilon,Tier 1.5,0.797,1,A_surface,13,80.69,1,0,,,0,0,,0,Congenital myasthenic syndromes,0.8223287249629152
P23942,PRPH2,Peripherin-2,Tier 1.5,0.796,1,A_surface,1,87.0,1,0,,,0,0,,0,retinitis pigmentosa,0.8194208847382956
Q9BZV2,SLC19A3,Thiamine transporter 2,Tier 1.5,0.796,1,A_surface,19,81.56,1,0,,,0,0,,0,biotin-responsive basal ganglia disease,0.8189646480334981
Q5JUK3,KCNT1,Potassium channel subfamily T member 1,Tier 1.5,0.795,1,A_surface,6,73.88,1,0,,,0,0,,0,"developmental and epileptic encephalopathy, 14",0.8165232785825526
Q9NQW8,CNGB3,Cyclic nucleotide-gated channel beta-3,Tier 1.5,0.791,1,A_surface,9,68.12,1,0,,,0,0,,0,achromatopsia,0.8033348000666748
Q01718,MC2R,Adrenocorticotropic hormone receptor,Tier 1.5,0.79,1,A_surface,2,85.38,1,0,,,0,0,,0,familial glucocorticoid deficiency,0.8001007686411645
O43525,KCNQ3,Potassium voltage-gated channel subfamily KQT member 3,Tier 1.5,0.789,1,A_surface,1,56.72,0,0,,,0,0,,0,Benign familial neonatal seizures,0.7961763561533409
P37023,ACVRL1,Activin receptor type-1-like,Tier 1.5,0.789,1,A_surface,7,82.0,0,0,,,0,0,,0,"telangiectasia, hereditary hemorrhagic, type 2",0.7951167515831324
P16410,CTLA4,Cytotoxic T-lymphocyte protein 4,Tier 1.5,0.787,1,A_surface,22,80.12,0,0,,,1,26,"41907643,40972397,40870970,40811947,40536609,39417693,38473398,38158454,36966395,36831533,36603108,36015348,33970170,32929022,32840510,32280743,32024070,31405808,28918052,28082399,26030229,25565435,24892807,23460536,23460531,14612549",0,autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency,0.7906408646569979
Q13698,CACNA1S,Voltage-dependent L-type calcium channel subunit alpha-1S,Tier 1.5,0.786,1,A_surface,2,71.81,0,0,,,0,0,,0,"hypokalemic periodic paralysis, type 1",0.7869997029542154
O95622,ADCY5,Adenylate cyclase type 5,Tier 1.5,0.785,1,A_surface,2,73.19,1,0,,,0,0,,0,"dyskinesia with orofacial involvement, autosomal dominant",0.7830401650561951
Q96MS0,ROBO3,Roundabout homolog 3,Tier 1.5,0.784,1,A_surface,3,63.69,0,0,,,1,2,32369590,0,horizontal gaze palsy with progressive scoliosis,0.7813306356858872
P51168,SCNN1B,Epithelial sodium channel subunit beta,Tier 1.5,0.783,1,A_surface,5,82.44,1,0,,,0,0,,0,bronchiectasis with or without elevated sweat chloride 1,0.775668400727201
O43497,CACNA1G,Voltage-dependent T-type calcium channel subunit alpha-1G,Tier 1.5,0.783,1,A_surface,2,58.22,1,0,,,0,0,,0,Spinocerebellar ataxia type 42,0.7770459773037601
P43004,SLC1A2,Excitatory amino acid transporter 2,Tier 1.5,0.783,1,A_surface,7,77.75,1,0,,,0,0,,0,"developmental and epileptic encephalopathy, 41",0.7772658651722512
Q8TDI8,TMC1,Transmembrane channel-like protein 1,Tier 1.5,0.781,1,A_surface,1,76.88,0,0,,,0,0,,0,autosomal recessive nonsyndromic hearing loss 7,0.7694318181814068
P48547,KCNC1,Voltage-gated potassium channel KCNC1,Tier 1.5,0.78,1,A_surface,10,78.56,1,0,,,0,0,,0,Progressive myoclonic epilepsy,0.7675090944252294
Q13255,GRM1,Metabotropic glutamate receptor 1,Tier 1.5,0.779,1,A_surface,4,70.94,1,0,,,0,0,,0,autosomal recessive spinocerebellar ataxia 13,0.7631507286490296
P51654,GPC3,Glypican-3,Tier 1.5,0.779,1,A_surface,4,75.06,1,0,,,1,65,"42083729,41790019,41653459,41045695,40825648,40722645,39998646,39874791,39608318,39427046,38910291,38787447,38621313,38368644,37665421,36903516,36457288,36317566,36072763,35788872,35699181,35477501,35051745,34974867,34306031,33254049,33080969,32356075,30347351,30122918,29675356,29605994,29277631,27601357,28263753",0,Simpson-Golabi-Behmel syndrome type 1,0.762708583613362
Q9NUN7,ACER3,Alkaline ceramidase 3,Tier 1.5,0.777,1,A_surface,2,93.19,0,0,,,0,0,,0,alkaline ceramidase 3 deficiency,0.7575827142824458
P20023,CR2,Complement receptor type 2,Tier 1.5,0.776,1,A_surface,9,74.94,1,0,,,1,1,33235290,0,"immunodeficiency, common variable, 7",0.7543125403898414
P40126,DCT,L-dopachrome tautomerase,Tier 1.5,0.774,1,A_surface,1,89.12,0,0,,,1,1,27245069,0,oculocutaneous albinism type 8,0.7468868816172217
Q86YC3,NRROS,Transforming growth factor beta activator LRRC33,Tier 1.5,0.773,1,A_surface,1,83.31,1,0,,,0,0,,0,"seizures, early-onset, with neurodegeneration and brain calcifications",0.744630610851649
Q9Y6J6,KCNE2,Potassium voltage-gated channel subfamily E member 2,Tier 1.5,0.772,1,A_surface,1,78.25,0,0,,,0,0,,0,Romano-Ward syndrome,0.739531738338193
O75899,GABBR2,Gamma-aminobutyric acid type B receptor subunit 2,Tier 1.5,0.771,1,A_surface,26,77.75,1,0,,,0,0,,0,"developmental and epileptic encephalopathy, 59",0.7356789732167734
O43914,TYROBP,TYRO protein tyrosine kinase-binding protein,Tier 1.5,0.77,1,A_surface,5,64.62,0,0,,,0,0,,0,Nasu-Hakola disease,0.7323368313860329
Q16572,SLC18A3,Vesicular acetylcholine transporter,Tier 1.5,0.77,1,A_surface,7,76.19,1,0,,,0,0,,0,Congenital myasthenic syndromes,0.7324174860789537
P08887,IL6R,Interleukin-6 receptor subunit alpha,Tier 1.5,0.768,1,A_surface,10,77.88,1,0,,,1,18,"40853309,38152968,37034659,36579647,35890412,33590853,33340765,32515246,29211023,28929152,26552813,26383776,24481022,24440854,23235494,22503683,22258147,22094809",0,rheumatoid arthritis,0.7269057706798291
P30542,ADORA1,Adenosine receptor A1,Tier 1.5,0.767,1,A_surface,5,92.44,1,0,,,0,0,,0,asthma,0.7232344154541454
Q00975,CACNA1B,Voltage-dependent N-type calcium channel subunit alpha-1B,Tier 1.5,0.767,1,A_surface,7,59.91,1,0,,,1,2,"31118475,25782368",0,Seizure,0.7217241968702018
Q9Y5Y9,SCN10A,Sodium channel protein type 10 subunit alpha,Tier 1.5,0.764,1,A_surface,8,67.31,1,0,,,0,0,,0,atrial fibrillation,0.7126293968222049
Q13705,ACVR2B,Activin receptor type-2B,Tier 1.5,0.763,1,A_surface,9,83.31,1,0,,,0,0,,0,Heterotaxia,0.7109733260300651
Q2M385,MPEG1,Macrophage-expressed gene 1 protein,Tier 1.5,0.761,1,A_surface,5,82.75,1,0,,,0,0,,0,immunodeficiency 77,0.7043238859467001
Q9NPI9,KCNJ16,Inward rectifier potassium channel 16,Tier 1.5,0.761,1,A_surface,4,78.12,1,0,,,0,0,,0,hypokalemic tubulopathy and deafness,0.7018965238443493
Q9H2X9,SLC12A5,Solute carrier family 12 member 5,Tier 1.5,0.76,1,A_surface,2,78.44,1,0,,,0,0,,0,genetic developmental and epileptic encephalopathy,0.6993945840545625
P48023,FASLG,Tumor necrosis factor ligand superfamily member 6,Tier 1.5,0.76,1,A_surface,3,80.19,0,0,,,1,1,16581027,0,autoimmune lymphoproliferative syndrome type 1,0.6984292519156657
Q8IWU4,SLC30A8,Proton-coupled zinc antiporter SLC30A8,Tier 1.5,0.759,1,A_surface,3,82.12,1,0,,,0,0,,0,type 2 diabetes mellitus,0.6974093822415375