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
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
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
Q16595,FXN,"Frataxin, mitochondrial",Tier 1,0.757,1,B_cargo,20,75.5,1,0,,,0,0,,1,Friedreich ataxia,0.8550760415889643
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P49768,PSEN1,Presenilin-1,Tier 1,0.751,1,B_cargo,27,72.12,1,0,,,0,0,,1,Alzheimer disease 3,0.8373536811398027
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P60709,ACTB,"Actin, cytoplasmic 1",Negative Control,0.745,1,B_cargo,30,95.19,1,0,,,1,3,"40413753,38783134,34598060",1,Baraitser-Winter syndrome 1,0.8169087711684756
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
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
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