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
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
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
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
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
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
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
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
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
P19429,TNNI3,"Troponin I, cardiac muscle",Tier 1,0.75,1,B_cargo,39,78.62,1,0,,,1,1,26594036,1,hypertrophic cardiomyopathy,0.8340329164680969
Q99714,HSD17B10,3-hydroxyacyl-CoA dehydrogenase type-2,Tier 1,0.749,1,B_cargo,15,96.88,1,0,,,1,1,17917077,1,HSD10 mitochondrial disease,0.828877258137219
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
P42345,MTOR,Serine/threonine-protein kinase mTOR,Tier 1,0.749,1,B_cargo,70,78.0,1,0,,,1,27,"41951939,41924451,41819327,41563473,40316188,39728786,37574619,35356877,34638443,34362425,33319976,33124760,32521684,32245065,32170897,31840081,33455222,28945233,28471660,25751060,25057446,24292708,24242861,22363130,22239618,19878313,17495522",1,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,0.8296449565554538
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
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
Q99707,MTR,Methionine synthase,Tier 1,0.748,1,B_cargo,9,87.5,1,0,,,1,1,25964329,1,methylcobalamin deficiency type cblG,0.8253271986114175
Q9Y3A5,SBDS,Ribosome maturation protein SBDS,Tier 1,0.748,1,B_cargo,6,74.06,1,0,,,1,1,19454024,1,Shwachman-Diamond syndrome,0.8282172244212194
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
P11498,PC,"Pyruvate carboxylase, mitochondrial",Tier 1,0.746,1,B_cargo,10,90.38,1,0,,,1,607,"42025735,42015877,41963040,41956254,41946336,41942404,41940259,41852458,41850902,41813080,41806728,41801682,41791686,41786503,41742365,41713118,41686726,41679186,41671824,41621292,41586771,41570502,41545126,41519040,41453347,41447218,41444487,41422636,41401493,41328792,41294729,41275818,41275550,41268823,41207524,41167900,41155928,41149351,41135241,41103270,41061457,41030495,41002305,40992058,40978513,40974925,40968085,40952515,40942102,40936186",1,pyruvate carboxylase deficiency disease,0.8195584644258792
Q13148,TARDBP,TAR DNA-binding protein 43,Tier 1,0.746,1,B_cargo,44,65.19,1,0,,,1,7,"39548508,34469713,26915990,37671010,35739092,23264567",1,amyotrophic lateral sclerosis,0.8196962822149189
P46531,NOTCH1,Neurogenic locus notch homolog protein 1,Tier 1,0.746,1,B_cargo,29,59.59,1,0,,,1,4,"38559166,34431568,33614227,28685750",1,Adams-Oliver syndrome,0.8199672000988557
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
P26358,DNMT1,DNA (cytosine-5)-methyltransferase 1,Tier 1,0.744,1,B_cargo,27,77.81,1,0,,,1,12,"41635784,39079576,38762976,36609400,31733056,29554483,23179556",1,"autosomal dominant cerebellar ataxia, deafness and narcolepsy",0.8134195803175972
P35637,FUS,RNA-binding protein FUS,Tier 1,0.744,1,B_cargo,23,53.59,1,0,,,1,8,"40394046,35592098,28701145,15132764,12927206",1,sporadic amyotrophic lateral sclerosis,0.8117088043931799
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
P07602,PSAP,Prosaposin,Tier 1,0.743,1,B_cargo,20,73.75,1,0,,,1,1,41889102,1,Gaucher disease due to saposin C deficiency,0.8100495894070405
Q13501,SQSTM1,Sequestosome-1,Tier 1,0.743,1,B_cargo,26,67.25,1,0,,,1,4,"40413753,32225060",1,amyotrophic lateral sclerosis,0.809360678421687
Q9UHD2,TBK1,Serine/threonine-protein kinase TBK1,Tier 1,0.742,1,B_cargo,25,89.69,1,0,,,1,1,40413753,1,frontotemporal dementia and/or amyotrophic lateral sclerosis 4,0.8079405505675022