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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P51798,CLCN7,H(+)/Cl(-) exchange transporter 7,Tier 1.5,0.942,1,A_surface,9,80.94,1,0,,,0,0,,1,Autosomal recessive malignant osteopetrosis,0.8065499095904218
P49810,PSEN2,Presenilin-2,Tier 1,0.941,1,A_surface,2,71.81,1,0,,,0,0,,1,early-onset autosomal dominant Alzheimer disease,0.8047686386596943
P58335,ANTXR2,Anthrax toxin receptor 2,Tier 1,0.941,1,A_surface,14,71.81,1,0,,,1,4,"41503480,41083485,41020397,40313273",1,hyaline fibromatosis syndrome,0.8028849863986661
P61073,CXCR4,C-X-C chemokine receptor type 4,Tier 1,0.94,1,A_surface,33,82.25,1,0,,,1,17,"40671676,40401615,39865939,39778270,37052638,35157940,33739080,31737891,31267721,31097627,28670693,26265085,25329893,22811524,22376154,12498773,41543187",1,WHIM syndrome,0.8009225456235435
Q9H2M9,RAB3GAP2,Rab3 GTPase-activating protein non-catalytic subunit,Tier 1,0.939,1,A_surface,1,79.62,1,0,,,0,0,,1,Cataract - intellectual disability - hypogonadism,0.7977527040203786
Q9Y5Y0,FLVCR1,Choline/ethanolamine transporter FLVCR1,Tier 1,0.938,1,A_surface,8,77.56,1,0,,,0,0,,1,Posterior column ataxia - retinitis pigmentosa,0.7932113640677738
Q96JI7,SPG11,Spatacsin,Tier 1.5,0.937,1,A_surface,3,66.75,1,0,,,0,0,,1,Autosomal recessive spastic paraplegia type 11,0.7886006646085494
Q9NW15,ANO10,Anoctamin-10,Tier 1,0.937,1,A_surface,5,86.12,1,0,,,0,0,,1,autosomal recessive spinocerebellar ataxia 10,0.7915327777093032
P05023,ATP1A1,Sodium/potassium-transporting ATPase subunit alpha-1,Tier 1.5,0.936,1,A_surface,10,88.69,1,0,,,0,0,,1,"Charcot-Marie-tooth disease, axonal, type 2DD",0.7868851290226483
Q6PJF5,RHBDF2,Inactive rhomboid protein 2,Tier 1,0.936,1,A_surface,5,67.38,1,0,,,0,0,,1,palmoplantar keratoderma-esophageal carcinoma syndrome,0.7882817956366938
Q8TD43,TRPM4,Transient receptor potential cation channel subfamily M member 4,Tier 1.5,0.936,1,A_surface,25,77.44,1,0,,,0,0,,1,Familial progressive cardiac conduction defect,0.7868180621357534
P15529,CD46,Membrane cofactor protein,Tier 1.5,0.934,1,A_surface,7,82.12,1,0,,,1,9,"35114109,34248841,31761039,31077760,27734375,19915929,17046833,11084032",1,atypical hemolytic-uremic syndrome with MCP/CD46 anomaly,0.7798469882597787
Q9NP58,ABCB6,ATP-binding cassette sub-family B member 6,Tier 1,0.934,1,A_surface,16,83.06,1,0,,,0,0,,1,dyschromatosis universalis hereditaria 3,0.7783407126197405
P13987,CD59,CD59 glycoprotein,Tier 1,0.932,1,A_surface,17,79.31,1,0,,,1,1,19915929,1,primary CD59 deficiency,0.7738276843579196
Q8N766,EMC1,ER membrane protein complex subunit 1,Tier 1,0.931,1,A_surface,10,87.44,1,0,,,0,0,,1,"cerebellar atrophy, visual impairment, and psychomotor retardation;",0.7687056132401411
P78536,ADAM17,Disintegrin and metalloproteinase domain-containing protein 17,Tier 1,0.929,1,A_surface,33,72.69,1,0,,,0,0,,1,neonatal inflammatory skin and bowel disease,0.7624558659108367
Q02094,RHAG,Ammonium transporter Rh type A,Tier 1.5,0.929,1,A_surface,8,95.62,1,0,,,0,0,,1,Rh deficiency syndrome,0.764209214915708
P00846,MT-ATP6,ATP synthase F(0) complex subunit a,Tier 1.5,0.928,1,A_surface,10,88.94,1,0,,,0,0,,1,NARP syndrome,0.760749518172638
Q9BVK8,TMEM147,BOS complex subunit TMEM147,Tier 1,0.928,1,A_surface,3,92.5,1,0,,,0,0,,1,"neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly",0.7615388401822349