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
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
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
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
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
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
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
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
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
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
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
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
P43007,SLC1A4,Neutral amino acid transporter A,Tier 1.5,0.741,1,B_cargo,1,80.56,1,0,,,1,6,"36219068,31989939,27571928,26811678,19046328,16139842",1,spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,0.8025684205131692
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
Q14697,GANAB,Neutral alpha-glucosidase AB,Tier 1.5,0.738,1,B_cargo,2,92.94,1,0,,,0,0,,1,polycystic kidney disease 3 with or without polycystic liver disease,0.7928508011740861
P98155,VLDLR,Very low-density lipoprotein receptor,Tier 1.5,0.737,1,B_cargo,27,75.69,1,0,,,1,1,19188685,1,Dysequilibrium syndrome,0.790164037509625
Q96IJ6,GMPPA,Mannose-1-phosphate guanylyltransferase regulatory subunit alpha,Tier 1.5,0.737,1,B_cargo,3,93.06,1,0,,,0,0,,1,Triple A syndrome,0.7907928491141871
O14497,ARID1A,AT-rich interactive domain-containing protein 1A,Tier 1.5,0.734,1,B_cargo,8,46.91,1,0,,,0,0,,1,"intellectual disability, autosomal dominant 14",0.7798204163479697
P51790,CLCN3,H(+)/Cl(-) exchange transporter 3,Tier 1.5,0.733,1,B_cargo,5,80.0,1,0,,,0,0,,1,neurodevelopmental disorder with hypotonia and brain abnormalities,0.7761855675091979
Q15813,TBCE,Tubulin-specific chaperone E,Tier 1.5,0.732,1,B_cargo,6,89.19,1,0,,,1,1,34448574,1,hypoparathyroidism-retardation-dysmorphism syndrome,0.7744447925917005
Q2TAL8,QRICH1,Transcriptional regulator QRICH1,Tier 1.5,0.729,1,B_cargo,2,57.47,1,0,,,0,0,,1,Ververi-Brady syndrome 1,0.7633163630733731
Q13043,STK4,Serine/threonine-protein kinase 4,Tier 1.5,0.728,1,B_cargo,16,75.94,1,0,,,1,1,31707227,1,combined immunodeficiency due to STK4 deficiency,0.7613382040802787
O75175,CNOT3,CCR4-NOT transcription complex subunit 3,Tier 1.5,0.727,1,B_cargo,6,65.44,1,0,,,0,0,,1,"intellectual developmental disorder with speech delay, autism and dysmorphic facies",0.7557397879122256
P14854,COX6B1,Cytochrome c oxidase subunit 6B1,Tier 1.5,0.724,1,B_cargo,3,95.0,1,0,,,0,0,,1,"mitochondrial complex IV deficiency, nuclear type 7",0.7478662750768209
O00400,SLC33A1,Acetyl-coenzyme A transporter 1,Tier 1.5,0.723,1,B_cargo,2,82.38,1,0,,,0,0,,1,Huppke-Brendel syndrome,0.7421018006689203
P07237,P4HB,Protein disulfide-isomerase,Tier 1.5,0.723,1,B_cargo,14,88.5,1,0,,,1,2,"31625090,28952381",1,Cole-Carpenter syndrome,0.7447295842045853
Q63HN8,RNF213,E3 ubiquitin-protein ligase RNF213,Tier 1.5,0.723,1,B_cargo,4,86.25,1,0,,,0,0,,1,Moyamoya disease,0.7432964420796212
Q9Y287,ITM2B,Integral membrane protein 2B,Tier 1.5,0.72,1,B_cargo,1,75.44,1,0,,,0,0,,1,ABri amyloidosis,0.7342528954076827
O95479,H6PD,GDH/6PGL endoplasmic bifunctional protein,Tier 1.5,0.719,1,B_cargo,1,90.56,1,0,,,0,0,,1,Hyperandrogenism due to cortisone reductase deficiency,0.7312443728931738
P17812,CTPS1,CTP synthase 1,Tier 1.5,0.718,1,B_cargo,7,91.38,1,0,,,0,0,,1,combined immunodeficiency due to CTPS1 deficiency,0.727135118379296
Q8TAQ2,SMARCC2,SWI/SNF complex subunit SMARCC2,Tier 1.5,0.715,1,B_cargo,10,63.41,1,0,,,0,0,,1,Coffin-Siris syndrome 8,0.7151553459130683
P21281,ATP6V1B2,"V-type proton ATPase subunit B, brain isoform",Tier 1.5,0.715,1,B_cargo,8,86.0,1,0,,,0,0,,1,Zimmermann-Laband syndrome 2,0.7173813048839504
Q02218,OGDH,2-oxoglutarate dehydrogenase complex component E1,Tier 1.5,0.715,1,B_cargo,3,90.44,1,0,,,0,0,,1,oxoglutaricaciduria,0.7171952130928542
Q8ND04,SMG8,Nonsense-mediated mRNA decay factor SMG8,Tier 1.5,0.712,1,B_cargo,6,73.88,1,0,,,0,0,,1,Alzahrani-Kuwahara syndrome,0.705812720697099
Q8NI36,WDR36,WD repeat-containing protein 36,Tier 1.5,0.712,1,B_cargo,3,87.44,1,0,,,0,0,,1,open-angle glaucoma,0.7050878586165737
Q03519,TAP2,Antigen peptide transporter 2,Tier 1.5,0.712,1,B_cargo,21,82.69,1,0,,,0,0,,1,MHC class I deficiency,0.7053973274491012
Q5MNZ6,WDR45B,WD repeat domain phosphoinositide-interacting protein 3,Tier 1.5,0.709,1,B_cargo,5,94.81,1,0,,,0,0,,1,neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures,0.6954780252748286
Q13158,FADD,FAS-associated death domain protein,Tier 1.5,0.708,1,B_cargo,18,72.12,1,0,,,1,3,"36309655,30594071,26318819",1,FADD-related immunodeficiency,0.6932338529214827
O14979,HNRNPDL,Heterogeneous nuclear ribonucleoprotein D-like,Tier 1.5,0.705,1,B_cargo,1,62.78,1,0,,,0,0,,1,autosomal dominant limb-girdle muscular dystrophy type 1G,0.6837247353165932
P31483,TIA1,Cytotoxic granule associated RNA binding protein TIA1,Tier 1.5,0.699,1,B_cargo,10,73.69,1,0,,,0,0,,1,amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,0.6625203683612911
Q15645,TRIP13,Pachytene checkpoint protein 2 homolog,Tier 1.5,0.696,1,B_cargo,6,86.69,1,0,,,0,0,,1,mosaic variegated aneuploidy syndrome 3,0.6540826184796098