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
P06280,GLA,Alpha-galactosidase A,Tier 1,0.768,1,B_cargo,31,94.31,0,0,,,1,15,"41930712,41508958,41143454,38347795,38230795,37459647,37423441,37288783,36593537,36197710,35362383,31433757,31112933,29793133,17461758",1,Fabry disease,0.8939694636235022
P43246,MSH2,DNA mismatch repair protein Msh2,Tier 1,0.766,1,B_cargo,30,85.31,1,0,,,0,0,,1,Lynch syndrome,0.8882239051809577
P51608,MECP2,Methyl-CpG-binding protein 2,Tier 1,0.765,1,B_cargo,9,56.59,0,0,,,1,4,"40894892,25934574",1,Rett syndrome,0.8836154777062162
P01130,LDLR,Low-density lipoprotein receptor,Tier 1,0.763,1,B_cargo,36,75.44,0,0,,,1,18,"41707385,38796450,37351166,37175248,33177004,32415571,31841991,31493779,42031715,41599761,41276911,38996211,30269613,25855589",1,"hypercholesterolemia, familial, 1",0.8776305284554387
P04637,TP53,Cellular tumor antigen p53,Tier 1,0.763,1,B_cargo,100,75.06,0,0,,,1,13,"38811338,36591491,36364157,34375633,32370304,32161460,29737162,29610332,29323871,26413153,26406332,21324664,19734942",1,Li-Fraumeni syndrome,0.876069213988417
P10253,GAA,Lysosomal alpha-glucosidase,Tier 1,0.763,1,B_cargo,19,91.88,0,0,,,1,9,"41639270,38804293,36935137,36290911,33674421,34122904,31657561,28477231,8756406",1,Glycogen storage disease due to acid maltase deficiency,0.8766674295528372
P15289,ARSA,Arylsulfatase A,Tier 1,0.763,1,B_cargo,10,96.12,0,0,,,0,0,,1,metachromatic leukodystrophy,0.8781786404283894
Q06124,PTPN11,Tyrosine-protein phosphatase non-receptor type 11,Tier 1,0.762,1,B_cargo,100,85.94,0,0,,,1,1,35821507,1,Noonan syndrome,0.8741645623918622
O15305,PMM2,Phosphomannomutase 2,Tier 1,0.761,1,B_cargo,7,96.44,0,0,,,0,0,,1,PMM2-congenital disorder of glycosylation,0.8687293837006977
P00441,SOD1,Superoxide dismutase [Cu-Zn],Tier 1,0.761,1,B_cargo,100,97.94,0,0,,,1,7,"37671010,35052634,34208092,32592467,28771197,41325160",1,amyotrophic lateral sclerosis,0.8701480663155676
P14136,GFAP,Glial fibrillary acidic protein,Tier 1.5,0.761,1,B_cargo,1,80.0,0,0,,,1,4,"42022738,40983220,27924617,27399849",1,Alexander disease,0.8713727112153956
P15848,ARSB,Arylsulfatase B,Tier 1.5,0.761,1,B_cargo,1,93.12,0,0,,,0,0,,1,mucopolysaccharidosis type 6,0.8708405439406184
P54802,NAGLU,Alpha-N-acetylglucosaminidase,Tier 1.5,0.761,1,B_cargo,1,96.75,0,0,,,0,0,,1,mucopolysaccharidosis type 3B,0.8688752515463204
P00480,OTC,"Ornithine transcarbamylase, mitochondrial",Tier 1.5,0.76,1,B_cargo,4,92.19,0,0,,,1,71,"42031033,41819402,41207276,41033028,40970979,40801924,40719766,40644866,40602786,40187287,40064103,40015047,39904249,39644528,39571486,39275399,39030014,38504447,38193253,37459789,37364386,37103619,36891736,36618689,36454704,36403375,35884270,35672499,35006795,34973550,34821674,34684942,34152736,33812186,33035887,32862845,32768827,32674777,31673790,31580049,31325751,31016392,30837641,30778448,30594079,30426224,30202432,30128033,29937498,28578167",1,ornithine carbamoyltransferase deficiency,0.8675763935672858
P04424,ASL,Argininosuccinate lyase,Tier 1,0.76,1,B_cargo,2,96.31,0,0,,,1,7,"41897330,36768220,35926421,35123334,32157125,31942851,25825978",1,argininosuccinic aciduria,0.8658097399401212
P11532,DMD,Dystrophin,Tier 1.5,0.76,1,B_cargo,6,76.38,0,0,,,1,32,"41983899,41503480,41083485,40396427,39910928,39469668,38050701,37765072,37261868,34876524,34693888,34440571,34075115,33617542,32592467,28315675,28252048,27530235,27173731,26594036,26163061,26039989,21838691,20962041,17011811,38448545",1,Duchenne muscular dystrophy,0.865885140119287
P35520,CBS,Cystathionine beta-synthase,Tier 1,0.76,1,B_cargo,19,90.06,1,0,,,1,6,"41780400,40454747,39984441,39541715,30792407,8650546",1,classic homocystinuria,0.8675045223052872
P49748,ACADVL,"Very long-chain acyl-CoA dehydrogenase, mitochondrial",Tier 1.5,0.76,1,B_cargo,3,90.25,0,0,,,0,0,,1,very long chain acyl-CoA dehydrogenase deficiency,0.8655785842544526
Q01968,OCRL,Inositol polyphosphate 5-phosphatase OCRL,Tier 1.5,0.759,1,B_cargo,5,82.56,0,0,,,0,0,,1,oculocerebrorenal syndrome,0.8639646099557533
P02545,LMNA,Prelamin-A/C,Tier 1,0.758,1,B_cargo,27,76.38,1,0,,,1,1,37565451,1,dilated cardiomyopathy,0.8593312064339074
P07902,GALT,Galactose-1-phosphate uridylyltransferase,Tier 1,0.758,1,B_cargo,2,91.69,0,0,,,1,1,25483705,1,classic galactosemia,0.8596600028722636
P08559,PDHA1,"Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial",Tier 1,0.758,1,B_cargo,9,94.5,0,0,,,0,0,,1,pyruvate dehydrogenase E1-alpha deficiency,0.8590861671403908
P68133,ACTA1,"Actin, alpha skeletal muscle",Tier 1.5,0.758,1,B_cargo,5,95.12,1,0,,,0,0,,1,"congenital myopathy 2a, typical, autosomal dominant",0.8588441418736817
P36507,MAP2K2,Dual specificity mitogen-activated protein kinase kinase 2,Tier 1,0.757,1,B_cargo,3,81.62,0,0,,,0,0,,1,cardiofaciocutaneous syndrome,0.8571797350022399
Q04656,ATP7A,Copper-transporting ATPase 1,Tier 1,0.757,1,B_cargo,22,73.38,0,0,,,0,0,,1,Menkes disease,0.8556218833987248
Q16595,FXN,"Frataxin, mitochondrial",Tier 1,0.757,1,B_cargo,20,75.5,1,0,,,0,0,,1,Friedreich ataxia,0.8550760415889643
Q96RQ3,MCCC1,"Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",Tier 1,0.757,1,B_cargo,14,87.62,1,0,,,0,0,,1,Isolated 3-methylcrotonyl-CoA carboxylase deficiency,0.8573370131864518
P00966,ASS1,Argininosuccinate synthase,Tier 1,0.756,1,B_cargo,1,95.5,0,0,,,0,0,,1,citrullinemia type I,0.8547319473775126
P05165,PCCA,"Propionyl-CoA carboxylase alpha chain, mitochondrial",Tier 1.5,0.756,1,B_cargo,25,87.44,1,0,,,1,1,36578103,1,propionic acidemia,0.8530542602972598
P11310,ACADM,"Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",Tier 1,0.756,1,B_cargo,7,93.38,1,0,,,0,0,,1,medium chain acyl-CoA dehydrogenase deficiency,0.8542618568274527
P30566,ADSL,Adenylosuccinate lyase,Tier 1.5,0.756,1,B_cargo,4,96.56,0,0,,,0,0,,1,adenylosuccinate lyase deficiency,0.8537075354730899
P30613,PKLR,Pyruvate kinase PKLR,Tier 1,0.756,1,B_cargo,58,90.69,0,0,,,0,0,,1,pyruvate kinase deficiency of red cells,0.8545857147634045
P11413,G6PD,Glucose-6-phosphate 1-dehydrogenase,Tier 1,0.755,1,B_cargo,25,94.38,1,0,,,1,3,"41935727,20811084",1,"anemia, nonspherocytic hemolytic, due to G6PD deficiency",0.8516109113701843
P30084,ECHS1,"Enoyl-CoA hydratase, mitochondrial",Tier 1.5,0.755,1,B_cargo,6,91.69,1,0,,,0,0,,1,mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency,0.8483381531913922
P35475,IDUA,Alpha-L-iduronidase,Tier 1.5,0.755,1,B_cargo,11,94.75,0,0,,,1,1,18838694,1,Scheie syndrome,0.8500187612858606
P35914,HMGCL,"Hydroxymethylglutaryl-CoA lyase, mitochondrial",Tier 1.5,0.755,1,B_cargo,4,92.0,0,0,,,0,0,,1,3-hydroxy-3-methylglutaric aciduria,0.84972741897364
P46100,ATRX,Transcriptional regulator ATRX,Tier 1,0.755,1,B_cargo,12,51.81,0,0,,,0,0,,1,alpha thalassemia-X-linked intellectual disability syndrome,0.8486940552679562
P50336,PPOX,Protoporphyrinogen oxidase,Tier 1.5,0.755,1,B_cargo,3,95.31,0,0,,,0,0,,1,variegate porphyria,0.8511493920751063
P51648,ALDH3A2,Aldehyde dehydrogenase family 3 member A2,Tier 1.5,0.755,1,B_cargo,1,96.62,0,0,,,0,0,,1,Sjögren-Larsson syndrome,0.8498976178886021
Q14896,MYBPC3,"Myosin-binding protein C, cardiac-type",Tier 1.5,0.755,1,B_cargo,17,78.81,1,0,,,0,0,,1,hypertrophic cardiomyopathy,0.8502637105703099
P04181,OAT,"Ornithine aminotransferase, mitochondrial",Tier 1,0.754,1,B_cargo,25,94.06,0,0,,,1,5,"36610257,36010442,35744448,31883987,30847660",1,Gyrate atrophy of choroid and retina,0.8467230038335781
P11217,PYGM,"Glycogen phosphorylase, muscle form",Tier 1,0.754,1,B_cargo,1,94.31,0,0,,,0,0,,1,glycogen storage disease V,0.8482737151867437
P16278,GLB1,Beta-galactosidase,Tier 1,0.754,1,B_cargo,8,90.12,0,0,,,1,31,"41235448,40569566,40411663,37893383,36795559,36194889,34635237,34597992,34282923,29089431,28115631,27873255,25826571,25549616,24581444,24581443,24404773,23274138,21908397,21676871,21115656,18682034,17526692,17391960,17317571,17299271,23495909,12166645,11513587,11075346,11024283",1,mucopolysaccharidosis type 4B,0.847874266091269
P26440,IVD,"Isovaleryl-CoA dehydrogenase, mitochondrial",Tier 1.5,0.754,1,B_cargo,5,93.38,1,0,,,1,2,"41230502,26946282",1,isovaleric acidemia,0.8480603595890895
P42336,PIK3CA,"Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform",Tier 1,0.754,1,B_cargo,100,92.38,0,0,,,1,2,"40560578,36801760",1,megalencephaly-capillary malformation-polymicrogyria syndrome,0.846936627407075
P48637,GSS,Glutathione synthetase,Tier 1.5,0.754,1,B_cargo,2,94.94,0,0,,,1,1,24296062,1,Glutathione synthetase deficiency,0.8480115629745476
Q12756,KIF1A,Kinesin-like protein KIF1A,Tier 1,0.754,1,B_cargo,21,70.5,1,0,,,0,0,,1,"intellectual disability, autosomal dominant 9",0.8481151412193974
P10619,CTSA,Lysosomal protective protein,Tier 1,0.753,1,B_cargo,12,94.5,0,0,,,1,3,"41325160,10660541,41226313",1,galactosialidosis,0.8421773206603207
P12694,BCKDHA,"2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",Tier 1,0.753,1,B_cargo,24,91.56,0,0,,,0,0,,1,maple syrup urine disease type 1A,0.8431584865455812
P22830,FECH,"Ferrochelatase, mitochondrial",Tier 1,0.753,1,B_cargo,25,86.56,0,0,,,1,2,"24561613,24481979",1,autosomal erythropoietic protoporphyria,0.8424032706667833