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
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
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
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
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
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
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
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
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
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
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
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
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
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
P50416,CPT1A,"Carnitine O-palmitoyltransferase 1, liver isoform",Tier 1.5,0.751,1,B_cargo,1,92.44,0,0,,,1,1,29325019,1,carnitine palmitoyl transferase 1A deficiency,0.8360102017303558
P38117,ETFB,Electron transfer flavoprotein subunit beta,Tier 1,0.749,1,B_cargo,4,96.12,0,0,,,1,4,"40102450,37599631",1,multiple acyl-CoA dehydrogenase deficiency,0.8299661865891321
Q9Y6K9,IKBKG,NF-kappa-B essential modulator,Tier 1,0.749,1,B_cargo,17,82.0,0,0,,,1,2,"27802394,16891465",1,incontinentia pigmenti,0.8297700299216089
P20936,RASA1,Ras GTPase-activating protein 1,Tier 1,0.749,1,B_cargo,15,75.44,0,0,,,1,1,25778421,1,capillary malformation-arteriovenous malformation 1,0.8306926057172873
P48728,AMT,"Aminomethyltransferase, mitochondrial",Tier 1.5,0.749,1,B_cargo,2,93.69,0,0,,,1,6,"41360349,38751431,36935143,32969502,32779681,32062632",1,glycine encephalopathy,0.8307194416875259
P01116,KRAS,GTPase KRas,Tier 1,0.748,1,B_cargo,100,91.5,0,1,6GOD,6MNX,1,21,"41132421,40824107,40766128,40148451,39215101,38784467,38784452,38604287,37637206,36229679,35473857,34097885,32871244,32370304,32010971,31583159,28639199,28514850,27936442,20565241,17461759",1,Noonan syndrome 3,0.8263697027313498
P27986,PIK3R1,Phosphatidylinositol 3-kinase regulatory subunit alpha,Tier 1,0.747,1,B_cargo,100,83.19,0,0,,,1,1,40560578,1,SHORT syndrome,0.8239278567344643
P00519,ABL1,Tyrosine-protein kinase ABL1,Tier 1,0.747,1,B_cargo,85,63.38,0,1,2GQG,1OPL,1,5,"31295447,23836560,22411871,21810089,21653319",1,chronic myelogenous leukemia,0.8219762968845584
P22681,CBL,E3 ubiquitin-protein ligase CBL,Tier 1,0.745,1,B_cargo,33,62.84,0,0,,,1,4,"39759445,37013991,30216975,25306351",1,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,0.8150104416646294
P04062,GBA1,Lysosomal acid glucosylceramidase,Tier 1,0.744,1,B_cargo,58,93.25,0,0,,,1,1,37586882,1,Gaucher disease type 1,0.8135519187294226
P16435,POR,NADPH--cytochrome P450 reductase,Tier 1,0.744,1,B_cargo,9,91.06,0,0,,,1,11,"40318334,39697550,38684113,36979536,36768220,34770519,32486489,32290083,31636244,30478720,19384756",1,Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,0.8147489131213279
P32754,HPD,4-hydroxyphenylpyruvate dioxygenase,Tier 1,0.743,1,B_cargo,4,95.69,0,0,,,1,2,"38093483,28912094",1,Tyrosinemia type 3,0.8084143670720506
P52788,SMS,Spermine synthase,Tier 1,0.743,1,B_cargo,2,94.81,0,0,,,1,3,"37384557,36558901,31606878",1,syndromic X-linked intellectual disability Snyder type,0.8110331779507982
P00491,PNP,Purine nucleoside phosphorylase,Tier 1,0.743,1,B_cargo,41,93.81,0,0,,,1,3,"38377562,31510048,30264075",1,purine nucleoside phosphorylase deficiency,0.8112966864301248
P43403,ZAP70,Tyrosine-protein kinase ZAP-70,Tier 1,0.742,1,B_cargo,15,84.94,0,0,,,1,4,"37231465,36656150,34814699,29961347",1,combined immunodeficiency due to ZAP70 deficiency,0.8071926297327517
Q06787,FMR1,Fragile X messenger ribonucleoprotein 1,Tier 1,0.742,1,B_cargo,12,69.38,0,0,,,1,9,"41635784,40659275,25537455,12927206,35364257,33483368,23264567",1,fragile X syndrome,0.8080082391330151
Q16637,SMN1,Survival motor neuron protein,Tier 1,0.742,1,B_cargo,16,66.88,0,0,,,1,1,21109673,1,Proximal spinal muscular atrophy type 3,0.8070641208991373
P50402,EMD,Emerin,Tier 1,0.742,1,B_cargo,6,60.25,0,0,,,1,5,"41981891,41688234,41221651,40349714,39788927",1,X-linked Emery-Dreifuss muscular dystrophy,0.8055293618805336
P04150,NR3C1,Glucocorticoid receptor,Tier 1,0.742,1,B_cargo,57,59.59,0,0,,,1,5,"35026285,32964813,29196557,27628422",1,glucocorticoid resistance,0.8081730501624982
P05089,ARG1,Arginase-1,Tier 1,0.741,1,B_cargo,60,97.0,0,0,,,1,2,"41854184,27819142",1,Argininemia,0.8021779270767568
P09936,UCHL1,Ubiquitin carboxyl-terminal hydrolase isozyme L1,Tier 1.5,0.741,1,B_cargo,14,93.62,0,0,,,1,2,30863411,1,early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,0.8048623975346616
Q6NUK1,SLC25A24,Mitochondrial adenyl nucleotide antiporter SLC25A24,Tier 1.5,0.74,1,B_cargo,3,81.31,0,0,,,1,1,41871245,1,Fontaine progeroid syndrome,0.7984507086824493
P00918,CA2,Carbonic anhydrase 2,Tier 1,0.738,1,B_cargo,100,97.38,0,0,,,1,109,"41955789,41543229,41513346,40854266,40783389,40744710,40660917,40411663,40380946,40321028,39978259,39928524,39716707,39536855,39515698,38946763,38693181,38462338,38409486,37997814,37726778,37148800,37103734,36792529,36410157,36140102,36107718,35490167,35344667,35211356,35194086,35022247,35006986,34619285,34607961,34440571,34399193,34362425,34166652,33832411,33479839,33410656,33230701,33080851,32991252,35516485,32700526,32493583,32331372,32304233",1,Osteopetrosis with renal tubular acidosis,0.7929568656592082
P00374,DHFR,Dihydrofolate reductase,Tier 1,0.738,1,B_cargo,89,96.12,0,0,,,1,6,"41680500,29122887,11931614,38027068",1,constitutional megaloblastic anemia with severe neurologic disease,0.7944942680009458