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
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
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
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
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
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
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
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
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
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
P50336,PPOX,Protoporphyrinogen oxidase,Tier 1.5,0.755,1,B_cargo,3,95.31,0,0,,,0,0,,1,variegate porphyria,0.8511493920751063
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
P51570,GALK1,Galactokinase,Tier 1,0.753,1,B_cargo,20,97.19,0,0,,,0,0,,1,galactokinase deficiency,0.8442002323363244
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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