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
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
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
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
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
P68133,ACTA1,"Actin, alpha skeletal muscle",Tier 1.5,0.758,1,B_cargo,5,95.12,1,0,,,0,0,,1,"congenital myopathy 2a, typical, autosomal dominant",0.8588441418736817
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
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
P30084,ECHS1,"Enoyl-CoA hydratase, mitochondrial",Tier 1.5,0.755,1,B_cargo,6,91.69,1,0,,,0,0,,1,mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency,0.8483381531913922
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
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
P50336,PPOX,Protoporphyrinogen oxidase,Tier 1.5,0.755,1,B_cargo,3,95.31,0,0,,,0,0,,1,variegate porphyria,0.8511493920751063
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
Q14896,MYBPC3,"Myosin-binding protein C, cardiac-type",Tier 1.5,0.755,1,B_cargo,17,78.81,1,0,,,0,0,,1,hypertrophic cardiomyopathy,0.8502637105703099
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
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
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
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
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
P35573,AGL,Glycogen debranching enzyme,Tier 1.5,0.75,1,B_cargo,1,92.75,1,0,,,0,0,,1,glycogen storage disease III,0.8321686508777297
P54886,ALDH18A1,Delta-1-pyrroline-5-carboxylate synthase,Tier 1.5,0.75,1,B_cargo,1,84.19,0,0,,,0,0,,1,ALDH18A1-related de Barsy syndrome,0.8337004817329543
Q9Y4W6,AFG3L2,Mitochondrial inner membrane m-AAA protease component AFG3L2,Tier 1.5,0.75,1,B_cargo,2,76.75,1,0,,,0,0,,1,spinocerebellar ataxia type 28,0.8341800061294613
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
Q9H0F7,ARL6,ADP-ribosylation factor-like protein 6,Tier 1.5,0.749,1,B_cargo,1,94.69,0,0,,,0,0,,1,Bardet-Biedl syndrome,0.831055560105815
P02538,KRT6A,"Keratin, type II cytoskeletal 6A",Tier 1.5,0.748,1,B_cargo,1,66.31,0,0,,,0,0,,1,pachyonychia congenita,0.8265917804295808
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
P55809,OXCT1,"Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial",Tier 1.5,0.748,1,B_cargo,1,91.94,0,0,,,0,0,,1,succinyl-CoA:3-ketoacid CoA transferase deficiency,0.8271377770408165
Q8IWV7,UBR1,E3 ubiquitin-protein ligase UBR1,Tier 1.5,0.748,1,B_cargo,5,84.69,0,0,,,0,0,,1,Johanson-Blizzard syndrome,0.8277473176517505
P12955,PEPD,Xaa-Pro dipeptidase,Tier 1.5,0.747,1,B_cargo,21,97.44,0,0,,,0,0,,1,prolidase deficiency,0.8227965856258603
Q15833,STXBP2,Syntaxin-binding protein 2,Tier 1.5,0.747,1,B_cargo,1,90.0,0,0,,,0,0,,1,Familial hemophagocytic lymphohistiocytosis,0.8239664182555839
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
Q9Y484,WDR45,WD repeat domain phosphoinositide-interacting protein 4,Tier 1.5,0.747,1,B_cargo,3,90.5,1,0,,,0,0,,1,neurodegeneration with brain iron accumulation 5,0.8230559793277397
O75027,ABCB7,"Iron-sulfur clusters transporter ABCB7, mitochondrial",Tier 1.5,0.746,1,B_cargo,1,78.12,1,0,,,0,0,,1,X-linked sideroblastic anemia with ataxia,0.821045506234113
P08237,PFKM,"ATP-dependent 6-phosphofructokinase, muscle type",Tier 1.5,0.746,1,B_cargo,1,91.69,0,0,,,0,0,,1,glycogen storage disease VII,0.8199812991737021
Q14739,LBR,Delta(14)-sterol reductase LBR,Tier 1.5,0.746,1,B_cargo,1,76.62,0,0,,,0,0,,1,Greenberg dysplasia,0.8198252534620432
P02549,SPTA1,"Spectrin alpha chain, erythrocytic 1",Tier 1.5,0.745,1,B_cargo,3,76.38,0,0,,,0,0,,1,elliptocytosis 2,0.8153311905916062
P38571,LIPA,Lysosomal acid lipase/cholesteryl ester hydrolase,Tier 1.5,0.745,1,B_cargo,1,91.56,0,0,,,0,0,,1,cholesteryl ester storage disease,0.8176913717992665
P63267,ACTG2,"Actin, gamma-enteric smooth muscle",Tier 1.5,0.745,1,B_cargo,4,95.38,1,0,,,0,0,,1,visceral myopathy 1,0.8175814609874555
Q14938,NFIX,Nuclear factor 1 X-type,Tier 1.5,0.745,1,B_cargo,3,61.62,0,0,,,0,0,,1,Malan overgrowth syndrome,0.8156080181042044
O95822,MLYCD,"Malonyl-CoA decarboxylase, mitochondrial",Tier 1.5,0.744,1,B_cargo,2,89.94,0,0,,,0,0,,1,malonic aciduria,0.8148554714603661
P04080,CSTB,Cystatin-B,Tier 1.5,0.744,1,B_cargo,3,95.56,0,0,,,0,0,,1,Unverricht-Lundborg disease,0.8143874694671263
P42224,STAT1,Signal transducer and activator of transcription 1-alpha/beta,Tier 1.5,0.744,1,B_cargo,10,87.25,1,0,,,1,5,"41290466,38569854,31879964,31702021,21433395",1,Chronic mucocutaneous candidosis,0.8147374964880533
P51159,RAB27A,Ras-related protein Rab-27A,Tier 1.5,0.744,1,B_cargo,11,83.94,1,0,,,0,0,,1,Griscelli syndrome type 2,0.8139882966122653
Q01433,AMPD2,AMP deaminase 2,Tier 1.5,0.744,1,B_cargo,4,80.69,0,0,,,0,0,,1,pontocerebellar hypoplasia type 9,0.8149450703818453
Q15738,NSDHL,"Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",Tier 1.5,0.744,1,B_cargo,2,88.62,0,0,,,0,0,,1,CHILD syndrome,0.81209434191833
P02533,KRT14,"Keratin, type I cytoskeletal 14",Tier 1.5,0.743,1,B_cargo,2,73.25,0,0,,,0,0,,1,"epidermolysis bullosa simplex 1A, generalized severe",0.8088593947918921
Q14839,CHD4,ATP-dependent chromatin remodeler CHD4,Tier 1.5,0.743,1,B_cargo,12,64.62,1,0,,,0,0,,1,Sifrim-Hitz-Weiss syndrome,0.8103430577478806