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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P07333,CSF1R,Macrophage colony-stimulating factor 1 receptor,Tier 1,0.802,1,A_surface,26,77.81,0,0,,,1,1,29277631,0,"leukoencephalopathy, diffuse hereditary, with spheroids 1",0.8391971566583056
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
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
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
P42262,GRIA2,Glutamate receptor 2,Tier 1,0.8,1,A_surface,16,84.94,0,0,,,1,4,"28325839,19417060,17929944,17024188",0,neurodevelopmental disorder with language impairment and behavioral abnormalities,0.8328652004757138
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
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
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
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
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
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
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
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
Q01974,ROR2,Tyrosine-protein kinase transmembrane receptor ROR2,Tier 1,0.794,1,A_surface,6,68.31,0,0,,,1,2,"41782379,18673242",0,autosomal recessive Robinow syndrome,0.8145559265435566
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
Q9UM73,ALK,ALK tyrosine kinase receptor,Tier 1,0.791,1,A_surface,79,68.19,0,0,,,1,6,"40347134,38604287,32218299,29205808,24116381,21281497",0,neuroblastoma,0.8016889264946979
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
Q12866,MERTK,Tyrosine-protein kinase Mer,Tier 1,0.79,1,A_surface,42,72.25,0,0,,,0,0,,0,retinitis pigmentosa,0.7985580877708576
Q4KMG0,CDON,Cell adhesion molecule-related/down-regulated by oncogenes,Tier 1,0.79,1,A_surface,3,62.03,0,0,,,1,3,"36333824,24629635,18698484",0,holoprosencephaly,0.800378039564866
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
P16871,IL7R,Interleukin-7 receptor subunit alpha,Tier 1,0.789,1,A_surface,8,67.44,0,0,,,0,0,,0,immunodeficiency 104,0.7983119488718231
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
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
P15509,CSF2RA,Granulocyte-macrophage colony-stimulating factor receptor subunit alpha,Tier 1,0.788,1,A_surface,2,82.0,0,0,,,0,0,,0,Congenital pulmonary alveolar proteinosis,0.7922592394513138
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
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