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
P13569,CFTR,Cystic fibrosis transmembrane conductance regulator,Tier 1,0.824,1,A_surface,58,75.62,1,0,,,1,10,"41148207,31029337,30595527,22483890,15657417",0,cystic fibrosis,0.9133535862571094
Q14654,KCNJ11,ATP-sensitive inward rectifier potassium channel 11,Tier 1,0.81,1,A_surface,9,83.81,1,0,,,0,0,,0,type 2 diabetes mellitus,0.8651421397012851
P07949,RET,Proto-oncogene tyrosine-protein kinase receptor Ret,Tier 1,0.809,1,A_surface,34,78.81,1,0,,,1,83,"41962371,41744190,41636718,41526122,41406741,41171123,41082837,41060784,41027166,40932619,40815127,40711581,40633058,40602121,40410423,40285964,40252505,40222299,39344894,39288589,39190775,38953438,38876068,38852325,38718747,38604287,38354543,38282384,38237282,37851382,37774402,37757695,37437453,37245460,36952259,36315022,35550937,35420408,34342436,34132907,34016094,33513536,33462661,33119785,33011620,32760976,32527800,32212604,32138930,31897454",0,medullary thyroid gland carcinoma,0.8617460262224842
Q12809,KCNH2,Voltage-gated inwardly rectifying potassium channel KCNH2,Tier 1,0.806,1,A_surface,23,62.75,1,0,,,1,1,22617876,0,Romano-Ward syndrome,0.8549238933917284
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
P82251,SLC7A9,"b(0,+)-type amino acid transporter 1",Tier 1,0.805,1,A_surface,4,85.44,1,0,,,0,0,,0,cystinuria,0.8484952668941285
Q695T7,SLC6A19,Sodium-dependent neutral amino acid transporter B(0)AT1,Tier 1,0.804,1,A_surface,19,90.0,1,0,,,0,0,,0,Hartnup disease,0.8464240093600148
P41180,CASR,Extracellular calcium-sensing receptor,Tier 1,0.804,1,A_surface,31,75.69,1,0,,,0,0,,0,familial hypocalciuric hypercalcemia 1,0.8460848589627423
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
Q05586,GRIN1,"Glutamate receptor ionotropic, NMDA 1",Tier 1,0.803,1,A_surface,84,82.88,1,0,,,0,0,,0,"neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant",0.8446685494288694
P07911,UMOD,Uromodulin,Tier 1,0.803,1,A_surface,10,82.94,1,0,,,1,4,"37533140,35446786",0,familial juvenile hyperuricemic nephropathy type 1,0.8446536377993564
O43526,KCNQ2,Potassium voltage-gated channel subfamily KQT member 2,Tier 1,0.803,1,A_surface,24,58.19,1,0,,,0,0,,0,Benign familial neonatal seizures,0.8423358217314708
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
Q9HBA0,TRPV4,Transient receptor potential cation channel subfamily V member 4,Tier 1,0.801,1,A_surface,19,71.62,1,0,,,0,0,,0,metatropic dysplasia,0.8356240344517467
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
P16473,TSHR,Thyrotropin receptor,Tier 1,0.8,1,A_surface,9,74.0,1,0,,,1,6,"41054857,40997970,40588369,38650837",0,hypothyroidism due to TSH receptor mutations,0.8327127196409464
Q92736,RYR2,Ryanodine receptor 2,Tier 1,0.8,1,A_surface,26,,1,0,,,1,1,24130701,0,catecholaminergic polymorphic ventricular tachycardia 1,0.8338648743498255
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
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
Q8IZF0,NALCN,Sodium leak channel NALCN,Tier 1,0.796,1,A_surface,5,76.69,1,0,,,0,0,,0,"congenital contractures of the limbs and face, hypotonia, and developmental delay",0.8198033442161259
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
P41181,AQP2,Aquaporin-2,Tier 1,0.795,1,A_surface,7,91.75,1,0,,,0,0,,0,"diabetes insipidus, nephrogenic, autosomal",0.817870726313342
Q9ULV1,FZD4,Frizzled-4,Tier 1,0.795,1,A_surface,11,84.31,1,0,,,1,1,18673242,0,Familial exudative vitreoretinopathy,0.8152111103672746
Q13651,IL10RA,Interleukin-10 receptor subunit alpha,Tier 1,0.795,1,A_surface,7,62.0,1,0,,,1,2,"25870409,25558474",0,Autosomal recessive early-onset inflammatory bowel disease,0.8151052076044897
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
Q9H222,ABCG5,ATP-binding cassette sub-family G member 5,Tier 1,0.793,1,A_surface,8,85.06,1,0,,,0,0,,0,sitosterolemia,0.810555184820483
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
Q9H1D0,TRPV6,Transient receptor potential cation channel subfamily V member 6,Tier 1,0.789,1,A_surface,24,80.56,1,0,,,0,0,,0,"hyperparathyroidism, transient neonatal",0.7964821997780153
Q14028,CNGB1,Cyclic nucleotide-gated channel beta-1,Tier 1,0.788,1,A_surface,11,57.66,1,0,,,0,0,,0,retinitis pigmentosa,0.7931901344765326
P24530,EDNRB,Endothelin receptor type B,Tier 1,0.786,1,A_surface,17,75.0,1,0,,,0,0,,0,Waardenburg syndrome type 4A,0.7874601728728147
Q03431,PTH1R,Parathyroid hormone/parathyroid hormone-related peptide receptor,Tier 1,0.786,1,A_surface,52,70.94,1,0,,,0,0,,0,"metaphyseal chondrodysplasia, Jansen type",0.7859378587442476
O60741,HCN1,Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1,Tier 1,0.786,1,A_surface,12,68.94,1,0,,,0,0,,0,Generalized epilepsy with febrile seizures-plus,0.7853938745545654
O43909,EXTL3,Exostosin-like 3,Tier 1,0.785,1,A_surface,4,83.69,1,0,,,0,0,,0,immunoskeletal dysplasia with neurodevelopmental abnormalities,0.7837827977649315
P22888,LHCGR,Lutropin-choriogonadotropic hormone receptor,Tier 1,0.785,1,A_surface,4,80.12,1,0,,,0,0,,0,"Leydig cell hypoplasia, type 1",0.783461117057047
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
P23416,GLRA2,Glycine receptor subunit alpha-2,Tier 1,0.784,1,A_surface,13,83.81,1,0,,,0,0,,0,"intellectual developmental disorder, X-linked, syndromic, Pilorge type",0.7805605973560554
P56696,KCNQ4,Potassium voltage-gated channel subfamily KQT member 4,Tier 1,0.783,1,A_surface,13,65.25,1,0,,,0,0,,0,autosomal dominant nonsyndromic hearing loss 2A,0.7765455627642878
Q13224,GRIN2B,"Glutamate receptor ionotropic, NMDA 2B",Tier 1,0.783,1,A_surface,36,60.69,1,0,,,0,0,,0,"intellectual disability, autosomal dominant 6",0.7771650025965382
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
P30531,SLC6A1,Sodium- and chloride-dependent GABA transporter 1,Tier 1,0.782,1,A_surface,5,87.94,1,0,,,0,0,,0,epilepsy with myoclonic atonic seizures,0.7729414443362785
Q9NY46,SCN3A,Sodium channel protein type 3 subunit alpha,Tier 1,0.781,1,A_surface,2,68.25,1,0,,,0,0,,0,familial focal epilepsy with variable foci,0.7708874082891223