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
P01112,HRAS,GTPase HRas,Tier 1,0.765,1,B_cargo,100,91.94,0,1,5P21,4Q21,0,0,,1,Costello syndrome,0.8839339324666988
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
P15289,ARSA,Arylsulfatase A,Tier 1,0.763,1,B_cargo,10,96.12,0,0,,,0,0,,1,metachromatic leukodystrophy,0.8781786404283894
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
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
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
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
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
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
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
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
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
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
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
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
Q16595,FXN,"Frataxin, mitochondrial",Tier 1,0.757,1,B_cargo,20,75.5,1,0,,,0,0,,1,Friedreich ataxia,0.8550760415889643
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
P00966,ASS1,Argininosuccinate synthase,Tier 1,0.756,1,B_cargo,1,95.5,0,0,,,0,0,,1,citrullinemia type I,0.8547319473775126
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
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
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
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
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
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
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
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
P51570,GALK1,Galactokinase,Tier 1,0.753,1,B_cargo,20,97.19,0,0,,,0,0,,1,galactokinase deficiency,0.8442002323363244
Q9HCC0,MCCC2,"Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",Tier 1,0.753,1,B_cargo,14,94.69,1,0,,,0,0,,1,3-methylcrotonyl-CoA carboxylase 2 deficiency,0.8437575319886195
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
Q9Y223,GNE,Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,Tier 1,0.753,1,B_cargo,5,93.12,0,0,,,0,0,,1,GNE myopathy,0.8438241196803116
P51649,ALDH5A1,"Succinate-semialdehyde dehydrogenase, mitochondrial",Tier 1,0.753,1,B_cargo,5,91.88,0,0,,,0,0,,1,succinic semialdehyde dehydrogenase deficiency,0.8435061416819137
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
Q8NBK3,SUMF1,Formylglycine-generating enzyme,Tier 1,0.753,1,B_cargo,18,83.56,0,0,,,1,1,38467937,1,Multiple sulfatase deficiency,0.8444446120971877
Q15465,SHH,Sonic hedgehog protein,Tier 1,0.753,1,B_cargo,20,78.38,1,0,,,1,4,"33257185,32867229,18698484,38462144",1,holoprosencephaly 3,0.8433062137163501
Q14376,GALE,UDP-glucose 4-epimerase,Tier 1,0.752,1,B_cargo,11,97.06,0,0,,,1,1,37486460,1,galactose epimerase deficiency,0.8407417123376392
Q13144,EIF2B5,Translation initiation factor eIF2B subunit epsilon,Tier 1,0.752,1,B_cargo,25,78.75,1,0,,,0,0,,1,CACH syndrome,0.8411470079917355
P55265,ADAR,Double-stranded RNA-specific adenosine deaminase,Tier 1,0.752,1,B_cargo,24,68.38,1,0,,,1,8,"41910181,41791686,41772759,41497668,41267360,39673485,38583236,17000903",1,Aicardi-Goutieres syndrome 6,0.8388797454328872
P35270,SPR,Sepiapterin reductase,Tier 1,0.751,1,B_cargo,14,96.69,0,0,,,1,368,"42010751,41791433,41759131,41646885,41572478,41547223,41524709,41522607,41330132,41294718,41248478,41231675,41185944,41035145,40897008,40839967,40821668,40801924,40558441,40516427,40331775,40277558,40251423,40207094,40191889,40174668,40163419,40130277,40113339,39954411,39927773,39894103,39852074,39808989,39742443,39644990,39584594,39206405,38934238,38870828,38829419,38742926,38732912,38682836,38645339,38613992,38606503,38552466,38444705,38342787,32456943",1,dopa-responsive dystonia due to sepiapterin reductase deficiency,0.8362323603565402
P43235,CTSK,Cathepsin K,Tier 1,0.751,1,B_cargo,70,94.88,0,0,,,1,3,"32603599,32693649,29263412",1,pycnodysostosis,0.8370793964210973
P46777,RPL5,Large ribosomal subunit protein uL18,Tier 1,0.751,1,B_cargo,30,94.5,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.8352702821155725
P16219,ACADS,"Short-chain specific acyl-CoA dehydrogenase, mitochondrial",Tier 1,0.751,1,B_cargo,4,93.62,1,0,,,0,0,,1,short chain acyl-CoA dehydrogenase deficiency,0.8352413435265167
P07954,FH,"Fumarate hydratase, mitochondrial",Tier 1,0.751,1,B_cargo,7,92.69,0,0,,,1,4,"37351166,32190730,28211680,21396765",1,hereditary leiomyomatosis and renal cell cancer,0.8372834886646517
P07686,HEXB,Beta-hexosaminidase subunit beta,Tier 1,0.751,1,B_cargo,8,92.81,0,0,,,0,0,,1,Sandhoff disease,0.8358490853539441
P00367,GLUD1,"Glutamate dehydrogenase 1, mitochondrial",Tier 1,0.751,1,B_cargo,7,90.25,1,0,,,0,0,,1,hyperinsulinism-hyperammonemia syndrome,0.8355052949188112
P53634,CTSC,Dipeptidyl peptidase 1,Tier 1,0.751,1,B_cargo,18,90.12,0,0,,,1,1,37052638,1,Papillon-Lefèvre syndrome,0.8373137649306006