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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P55157,MTTP,Microsomal triglyceride transfer protein large subunit,Tier 1.5,0.748,1,B_cargo,2,86.56,1,0,,,1,1,23770039,1,abetalipoproteinemia,0.8281089516017405
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
Q53H12,AGK,"Acylglycerol kinase, mitochondrial",Tier 1.5,0.747,1,B_cargo,1,87.0,1,0,,,1,1,35763566,1,Sengers syndrome,0.8231275438888749
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
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
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
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