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
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
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
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
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
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
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
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
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
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
P00966,ASS1,Argininosuccinate synthase,Tier 1,0.756,1,B_cargo,1,95.5,0,0,,,0,0,,1,citrullinemia type I,0.8547319473775126
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
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
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
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
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
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
P50336,PPOX,Protoporphyrinogen oxidase,Tier 1.5,0.755,1,B_cargo,3,95.31,0,0,,,0,0,,1,variegate porphyria,0.8511493920751063
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
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
P51570,GALK1,Galactokinase,Tier 1,0.753,1,B_cargo,20,97.19,0,0,,,0,0,,1,galactokinase deficiency,0.8442002323363244
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
P36871,PGM1,Phosphoglucomutase-1,Tier 1.5,0.753,1,B_cargo,16,97.12,0,0,,,0,0,,1,PGM1-congenital disorder of glycosylation,0.843931261346685
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
O95571,ETHE1,"Persulfide dioxygenase ETHE1, mitochondrial",Tier 1.5,0.752,1,B_cargo,1,92.88,0,0,,,0,0,,1,ethylmalonic encephalopathy,0.8389957647020829
P50897,PPT1,Palmitoyl-protein thioesterase 1,Tier 1.5,0.752,1,B_cargo,1,91.69,0,0,,,1,2,33112630,1,neuronal ceroid lipofuscinosis 1,0.8400332147230634
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
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