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
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
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
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
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
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
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
P50336,PPOX,Protoporphyrinogen oxidase,Tier 1.5,0.755,1,B_cargo,3,95.31,0,0,,,0,0,,1,variegate porphyria,0.8511493920751063
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Q8TCS8,PNPT1,"Polyribonucleotide nucleotidyltransferase 1, mitochondrial",Tier 1.5,0.743,1,B_cargo,11,87.44,1,0,,,0,0,,1,combined oxidative phosphorylation defect type 13,0.8091107966912156
Q9UGM6,WARS2,"Tryptophan--tRNA ligase, mitochondrial",Tier 1.5,0.743,1,B_cargo,1,89.75,0,0,,,0,0,,1,"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",0.8094386747017313
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
O43464,HTRA2,"Serine protease HTRA2, mitochondrial",Tier 1.5,0.742,1,B_cargo,13,74.44,1,0,,,0,0,,1,3-methylglutaconic aciduria type 8,0.8079136325441377
Q14738,PPP2R5D,Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform,Tier 1.5,0.742,1,B_cargo,2,79.94,1,0,,,0,0,,1,Hogue-Janssens syndrome 1,0.8058398703478188
Q15125,EBP,"3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase",Tier 1.5,0.742,1,B_cargo,4,95.56,1,0,,,0,0,,1,MEND syndrome,0.8082510362309315
Q16836,HADH,"Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",Tier 1.5,0.742,1,B_cargo,12,96.81,0,0,,,0,0,,1,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,0.8054501080547742
Q9UJS0,SLC25A13,"Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",Tier 1.5,0.742,1,B_cargo,1,82.31,0,0,,,0,0,,1,neonatal intrahepatic cholestasis due to citrin deficiency,0.8051027586554986
O95202,LETM1,Mitochondrial proton/calcium exchanger protein,Tier 1.5,0.742,1,B_cargo,2,66.56,0,0,,,0,0,,1,"neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction",0.8053871863850453
P51610,HCFC1,Host cell factor 1,Tier 1.5,0.741,1,B_cargo,11,46.41,0,0,,,0,0,,1,"methylmalonic acidemia with homocystinuria, type cblX",0.8025576540875302
Q16854,DGUOK,"Deoxyguanosine kinase, mitochondrial",Tier 1.5,0.741,1,B_cargo,1,86.06,0,0,,,0,0,,1,mitochondrial DNA depletion syndrome 3 (hepatocerebral type),0.8027927477832228
Q14669,TRIP12,E3 ubiquitin-protein ligase TRIP12,Tier 1.5,0.739,1,B_cargo,5,66.75,1,0,,,0,0,,1,Clark-Baraitser syndrome,0.795639262535032
Q9Y4R8,TELO2,Telomere length regulation protein TEL2 homolog,Tier 1.5,0.739,1,B_cargo,3,83.88,1,0,,,0,0,,1,TELO2-related intellectual disability-neurodevelopmental disorder,0.7971337980726797
P10916,MYL2,"Myosin regulatory light chain 2, ventricular/cardiac muscle isoform",Tier 1.5,0.738,1,B_cargo,3,83.5,1,0,,,0,0,,1,hypertrophic cardiomyopathy,0.7947577322969279