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
P01112,HRAS,GTPase HRas,Tier 1,0.765,1,B_cargo,100,91.94,0,1,5P21,4Q21,0,0,,1,Costello syndrome,0.8839339324666988
P15289,ARSA,Arylsulfatase A,Tier 1,0.763,1,B_cargo,10,96.12,0,0,,,0,0,,1,metachromatic leukodystrophy,0.8781786404283894
O15305,PMM2,Phosphomannomutase 2,Tier 1,0.761,1,B_cargo,7,96.44,0,0,,,0,0,,1,PMM2-congenital disorder of glycosylation,0.8687293837006977
P08559,PDHA1,"Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial",Tier 1,0.758,1,B_cargo,9,94.5,0,0,,,0,0,,1,pyruvate dehydrogenase E1-alpha deficiency,0.8590861671403908
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
P36507,MAP2K2,Dual specificity mitogen-activated protein kinase kinase 2,Tier 1,0.757,1,B_cargo,3,81.62,0,0,,,0,0,,1,cardiofaciocutaneous syndrome,0.8571797350022399
Q16595,FXN,"Frataxin, mitochondrial",Tier 1,0.757,1,B_cargo,20,75.5,1,0,,,0,0,,1,Friedreich ataxia,0.8550760415889643
Q04656,ATP7A,Copper-transporting ATPase 1,Tier 1,0.757,1,B_cargo,22,73.38,0,0,,,0,0,,1,Menkes disease,0.8556218833987248
P00966,ASS1,Argininosuccinate synthase,Tier 1,0.756,1,B_cargo,1,95.5,0,0,,,0,0,,1,citrullinemia type I,0.8547319473775126
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
P30613,PKLR,Pyruvate kinase PKLR,Tier 1,0.756,1,B_cargo,58,90.69,0,0,,,0,0,,1,pyruvate kinase deficiency of red cells,0.8545857147634045
P46100,ATRX,Transcriptional regulator ATRX,Tier 1,0.755,1,B_cargo,12,51.81,0,0,,,0,0,,1,alpha thalassemia-X-linked intellectual disability syndrome,0.8486940552679562
P11217,PYGM,"Glycogen phosphorylase, muscle form",Tier 1,0.754,1,B_cargo,1,94.31,0,0,,,0,0,,1,glycogen storage disease V,0.8482737151867437
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
P51570,GALK1,Galactokinase,Tier 1,0.753,1,B_cargo,20,97.19,0,0,,,0,0,,1,galactokinase deficiency,0.8442002323363244
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
Q9Y223,GNE,Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,Tier 1,0.753,1,B_cargo,5,93.12,0,0,,,0,0,,1,GNE myopathy,0.8438241196803116
P51649,ALDH5A1,"Succinate-semialdehyde dehydrogenase, mitochondrial",Tier 1,0.753,1,B_cargo,5,91.88,0,0,,,0,0,,1,succinic semialdehyde dehydrogenase deficiency,0.8435061416819137
P12694,BCKDHA,"2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",Tier 1,0.753,1,B_cargo,24,91.56,0,0,,,0,0,,1,maple syrup urine disease type 1A,0.8431584865455812
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
P07686,HEXB,Beta-hexosaminidase subunit beta,Tier 1,0.751,1,B_cargo,8,92.81,0,0,,,0,0,,1,Sandhoff disease,0.8358490853539441
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
Q9BX63,BRIP1,Fanconi anemia group J protein,Tier 1,0.751,1,B_cargo,3,63.88,0,0,,,0,0,,1,Fanconi anemia complementation group J,0.8380329286110476
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
Q8TB36,GDAP1,Ganglioside-induced differentiation-associated protein 1,Tier 1,0.75,1,B_cargo,8,87.31,0,0,,,0,0,,1,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,0.8335233921018209
P06132,UROD,Uroporphyrinogen decarboxylase,Tier 1,0.749,1,B_cargo,19,96.75,0,0,,,0,0,,1,Familial porphyria cutanea tarda,0.8298171209078576
P51659,HSD17B4,Peroxisomal multifunctional enzyme type 2,Tier 1,0.749,1,B_cargo,7,89.0,0,0,,,0,0,,1,d-bifunctional protein deficiency,0.830341815259975
Q9UBK8,MTRR,Methionine synthase reductase,Tier 1,0.749,1,B_cargo,2,85.31,0,0,,,0,0,,1,methylcobalamin deficiency type cblE,0.8288259674381309
O14936,CASK,Peripheral plasma membrane protein CASK,Tier 1,0.749,1,B_cargo,22,78.94,0,0,,,0,0,,1,"X-linked intellectual disability, Najm type",0.8302355593197244
P04075,ALDOA,Fructose-bisphosphate aldolase A,Tier 1,0.748,1,B_cargo,8,96.44,0,0,,,0,0,,1,glycogen storage disease due to aldolase A deficiency,0.826807229393595
P32322,PYCR1,"Pyrroline-5-carboxylate reductase 1, mitochondrial",Tier 1,0.748,1,B_cargo,47,89.81,0,0,,,0,0,,1,autosomal recessive cutis laxa type 2B,0.826514119676127
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
P00558,PGK1,Phosphoglycerate kinase 1,Tier 1,0.747,1,B_cargo,30,96.38,0,0,,,0,0,,1,glycogen storage disease due to phosphoglycerate kinase 1 deficiency,0.8228898260165487
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
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
O43819,SCO2,Cytochrome c oxidase assembly factor SCO2,Tier 1,0.746,1,B_cargo,1,83.75,0,0,,,0,0,,1,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",0.8204831517684852
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
P09467,FBP1,"Fructose-1,6-bisphosphatase 1",Tier 1,0.745,1,B_cargo,51,94.31,0,0,,,0,0,,1,"fructose-1,6-bisphosphatase deficiency",0.8178590536523854
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
P50440,GATM,"Glycine amidinotransferase, mitochondrial",Tier 1,0.744,1,B_cargo,11,89.62,0,0,,,0,0,,1,AGAT deficiency,0.8130880750586561
P17900,GM2A,Ganglioside GM2 activator,Tier 1,0.744,1,B_cargo,8,88.94,0,0,,,0,0,,1,"GM2-gangliosidosis, AB variant",0.8134379375819221
Q13825,AUH,"Methylglutaconyl-CoA hydratase, mitochondrial",Tier 1,0.744,1,B_cargo,3,85.69,0,0,,,0,0,,1,3-methylglutaconic aciduria type 1,0.8135711454915439
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