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
P43246,MSH2,DNA mismatch repair protein Msh2,Tier 1,0.766,1,B_cargo,30,85.31,1,0,,,0,0,,1,Lynch syndrome,0.8882239051809577
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
Q96RQ3,MCCC1,"Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",Tier 1,0.757,1,B_cargo,14,87.62,1,0,,,0,0,,1,Isolated 3-methylcrotonyl-CoA carboxylase deficiency,0.8573370131864518
Q16595,FXN,"Frataxin, mitochondrial",Tier 1,0.757,1,B_cargo,20,75.5,1,0,,,0,0,,1,Friedreich ataxia,0.8550760415889643
P11310,ACADM,"Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",Tier 1,0.756,1,B_cargo,7,93.38,1,0,,,0,0,,1,medium chain acyl-CoA dehydrogenase deficiency,0.8542618568274527
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
Q12756,KIF1A,Kinesin-like protein KIF1A,Tier 1,0.754,1,B_cargo,21,70.5,1,0,,,0,0,,1,"intellectual disability, autosomal dominant 9",0.8481151412193974
Q9HCC0,MCCC2,"Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",Tier 1,0.753,1,B_cargo,14,94.69,1,0,,,0,0,,1,3-methylcrotonyl-CoA carboxylase 2 deficiency,0.8437575319886195
Q13144,EIF2B5,Translation initiation factor eIF2B subunit epsilon,Tier 1,0.752,1,B_cargo,25,78.75,1,0,,,0,0,,1,CACH syndrome,0.8411470079917355
P46777,RPL5,Large ribosomal subunit protein uL18,Tier 1,0.751,1,B_cargo,30,94.5,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.8352702821155725
P16219,ACADS,"Short-chain specific acyl-CoA dehydrogenase, mitochondrial",Tier 1,0.751,1,B_cargo,4,93.62,1,0,,,0,0,,1,short chain acyl-CoA dehydrogenase deficiency,0.8352413435265167
P00367,GLUD1,"Glutamate dehydrogenase 1, mitochondrial",Tier 1,0.751,1,B_cargo,7,90.25,1,0,,,0,0,,1,hyperinsulinism-hyperammonemia syndrome,0.8355052949188112
P49768,PSEN1,Presenilin-1,Tier 1,0.751,1,B_cargo,27,72.12,1,0,,,0,0,,1,Alzheimer disease 3,0.8373536811398027
P63261,ACTG1,"Actin, cytoplasmic 2",Tier 1,0.75,1,B_cargo,10,95.38,1,0,,,0,0,,1,Baraitser-Winter syndrome,0.834386021888207
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
P36776,LONP1,"Lon protease homolog, mitochondrial",Tier 1,0.748,1,B_cargo,29,76.69,1,0,,,0,0,,1,CODAS syndrome,0.8273562128539942
Q7Z6Z7,HUWE1,E3 ubiquitin-protein ligase HUWE1,Tier 1,0.748,1,B_cargo,19,,1,0,,,0,0,,1,"intellectual disability, X-linked syndromic, Turner type",0.8251574698433977
Q71U36,TUBA1A,Tubulin alpha-1A chain,Tier 1,0.747,1,B_cargo,15,91.12,1,0,,,0,0,,1,lissencephaly due to TUBA1A mutation,0.8249848986700001
Q9UNE7,STUB1,E3 ubiquitin-protein ligase CHIP,Tier 1,0.747,1,B_cargo,21,89.31,1,0,,,0,0,,1,autosomal recessive spinocerebellar ataxia 16,0.8231010720948859
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
P09493,TPM1,Tropomyosin alpha-1 chain,Tier 1,0.746,1,B_cargo,14,91.62,1,0,,,0,0,,1,hypertrophic cardiomyopathy,0.8201717082603994
Q8IYB7,DIS3L2,DIS3-like exonuclease 2,Tier 1,0.746,1,B_cargo,4,82.69,1,0,,,0,0,,1,Perlman syndrome,0.8206937660793029
Q8TEQ6,GEMIN5,Gem-associated protein 5,Tier 1,0.746,1,B_cargo,16,78.94,1,0,,,0,0,,1,neurodevelopmental disorder with cerebellar atrophy and motor dysfunction,0.8184088962562686
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
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
P18077,RPL35A,Large ribosomal subunit protein eL33,Tier 1,0.744,1,B_cargo,30,95.56,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.8140112443681048
Q9UI10,EIF2B4,Translation initiation factor eIF2B subunit delta,Tier 1,0.744,1,B_cargo,25,76.5,1,0,,,0,0,,1,CACH syndrome,0.8146710778484454
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
O95831,AIFM1,"Apoptosis-inducing factor 1, mitochondrial",Tier 1,0.743,1,B_cargo,26,85.81,1,0,,,0,0,,1,severe X-linked mitochondrial encephalomyopathy,0.8095652882833212
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
E7ETK0,RPS24,40S ribosomal protein S24,Tier 1,0.742,1,B_cargo,2,89.44,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.808182918000228
O15287,FANCG,Fanconi anemia group G protein,Tier 1,0.742,1,B_cargo,6,83.12,1,0,,,0,0,,1,Fanconi anemia complementation group G,0.8075342855580835
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
P09471,GNAO1,Guanine nucleotide-binding protein G(o) subunit alpha,Tier 1,0.741,1,B_cargo,83,94.5,1,0,,,0,0,,1,"developmental and epileptic encephalopathy, 17",0.8046862567587088
Q13509,TUBB3,Tubulin beta-3 chain,Tier 1,0.741,1,B_cargo,28,91.44,1,0,,,0,0,,1,"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",0.8033756889440116
Q9UL18,AGO1,Protein argonaute-1,Tier 1,0.741,1,B_cargo,8,91.0,1,0,,,0,0,,1,"neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures",0.803337762735991
Q9H9Q4,NHEJ1,Non-homologous end-joining factor 1,Tier 1,0.741,1,B_cargo,26,81.75,1,0,,,0,0,,1,Cernunnos-XLF deficiency,0.8044005005389401
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
Q14232,EIF2B1,Translation initiation factor eIF2B subunit alpha,Tier 1,0.738,1,B_cargo,26,91.81,1,0,,,0,0,,1,leukoencephalopathy with vanishing white matter 1,0.7919833382589645
P0DP24,CALM2,Calmodulin-2,Tier 1,0.738,1,B_cargo,15,85.81,1,0,,,0,0,,1,long QT syndrome 15,0.7946166428883098
P46976,GYG1,Glycogenin-1,Tier 1,0.738,1,B_cargo,23,84.31,1,0,,,0,0,,1,polyglucosan body myopathy type 2,0.7939553356561934
O95163,ELP1,Elongator complex protein 1,Tier 1,0.738,1,B_cargo,5,83.94,1,0,,,0,0,,1,Familial dysautonomia,0.7942254141235164
Q4G0J3,LARP7,La-related protein 7,Tier 1,0.738,1,B_cargo,5,67.62,1,0,,,0,0,,1,"microcephalic primordial dwarfism, Alazami type",0.7921875576744281
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