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
P00439,PAH,Phenylalanine-4-hydroxylase,Tier 1,0.618,1,B_cargo,20,88.69,0,0,,,1,11,"39435559,35394406,35081018,34973551,33386219,32587339,31349094,26043089,24749544,23583275,16914451",0,phenylketonuria,0.892702971437507
P40337,VHL,von Hippel-Lindau disease tumor suppressor,Tier 1,0.616,1,B_cargo,100,84.44,0,0,,,1,5,"39437434,36250201,34549489,23142634,17290195",0,von Hippel-Lindau disease,0.8883247767048489
P22304,IDS,Iduronate 2-sulfatase,Tier 1.5,0.613,1,B_cargo,2,93.06,0,0,,,1,9,"41791433,41521476,41396069,40394224,37948569,31273548,30529550,28420169,20842131",0,mucopolysaccharidosis type 2,0.8781523206667287
O00255,MEN1,Menin,Tier 1,0.61,1,B_cargo,61,84.44,0,0,,,0,0,,0,multiple endocrine neoplasia type 1,0.8653255032429027
P35557,GCK,Hexokinase-4,Tier 1,0.609,1,B_cargo,35,93.69,0,0,,,0,0,,0,MODY,0.8633086470947097
P21549,AGXT,Alanine--glyoxylate aminotransferase,Tier 1,0.607,1,B_cargo,17,98.31,0,0,,,0,0,,0,primary hyperoxaluria type 1,0.8572717660798254
P04629,NTRK1,High affinity nerve growth factor receptor,Tier 1,0.607,1,B_cargo,65,78.25,0,0,,,1,1,38604287,0,hereditary sensory and autonomic neuropathy type 4,0.8579248191890114
Q9BZS1,FOXP3,Forkhead box protein P3,Tier 1,0.606,1,B_cargo,2,56.72,0,0,,,1,8,"40448637,34457999,32892748,26999456,24460675,22323540,18698484,18319343",0,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,0.8516802661294931
P19544,WT1,Wilms tumor protein,Tier 1,0.606,1,B_cargo,28,50.78,0,0,,,1,3,"27417971,19123921,11329270",0,Denys-Drash syndrome,0.8525486743466777
P37231,PPARG,Peroxisome proliferator-activated receptor gamma,Tier 1,0.605,1,B_cargo,100,76.12,0,0,,,1,3,"37203464,33671292,28206680",0,type 2 diabetes mellitus,0.8486094742593474
P23760,PAX3,Paired box protein Pax-3,Tier 1,0.605,1,B_cargo,1,63.94,0,0,,,0,0,,0,Waardenburg syndrome type 1,0.8500072027894306
P54132,BLM,RecQ-like DNA helicase BLM,Tier 1,0.605,1,B_cargo,15,60.53,0,0,,,1,9,"40700985,38959435,34973563,33571410,33050386,31563064,30343567,27332117,19146404",0,Bloom syndrome,0.8491084997646711
O76039,CDKL5,Cyclin-dependent kinase-like 5,Tier 1.5,0.605,1,B_cargo,3,53.12,0,0,,,0,0,,0,"developmental and epileptic encephalopathy, 2",0.8510325653635987
Q9UIF7,MUTYH,Adenine DNA glycosylase,Tier 1.5,0.605,1,B_cargo,3,78.94,0,0,,,0,0,,0,familial adenomatous polyposis 2,0.8483469680730393
P40692,MLH1,DNA mismatch repair protein Mlh1,Tier 1,0.604,1,B_cargo,7,77.31,0,0,,,0,0,,0,Lynch syndrome,0.8472183133029993
Q92793,CREBBP,CREB-binding protein,Tier 1,0.603,1,B_cargo,100,52.53,0,0,,,1,1,39429683,0,Rubinstein-Taybi syndrome due to CREBBP mutations,0.8442311239876018
P58012,FOXL2,Forkhead box protein L2,Tier 1.5,0.603,1,B_cargo,2,60.12,0,0,,,1,1,37933840,0,"blepharophimosis, ptosis, and epicanthus inversus syndrome",0.841709236718747
P20823,HNF1A,Hepatocyte nuclear factor 1-alpha,Tier 1.5,0.602,1,B_cargo,6,56.97,0,0,,,1,4,"15781225,15629461",0,MODY,0.8405262466243777
P38935,IGHMBP2,DNA-binding protein SMUBP-2,Tier 1.5,0.602,1,B_cargo,4,77.38,0,0,,,0,0,,0,autosomal recessive distal spinal muscular atrophy 1,0.8396147647161344
O43435,TBX1,T-box transcription factor TBX1,Tier 1.5,0.602,1,B_cargo,1,68.19,0,0,,,1,1,24797903,0,22q11.2 deletion syndrome,0.8406035626999856
P82279,CRB1,Protein crumbs homolog 1,Tier 1.5,0.602,1,B_cargo,1,75.06,0,0,,,0,0,,0,Leber congenital amaurosis 8,0.8398871782775204
P20807,CAPN3,Calpain-3,Tier 1,0.601,1,B_cargo,5,78.25,0,0,,,0,0,,0,autosomal recessive limb-girdle muscular dystrophy type 2A,0.8360959201056175
O60260,PRKN,E3 ubiquitin-protein ligase parkin,Tier 1,0.601,1,B_cargo,21,78.06,0,0,,,0,0,,0,Young adult-onset Parkinsonism,0.8361755700457273
Q8N159,NAGS,"N-acetylglutamate synthase, mitochondrial",Tier 1.5,0.601,1,B_cargo,1,79.75,0,0,,,0,0,,0,hyperammonemia due to N-acetylglutamate synthase deficiency,0.8382373711482316
Q02127,DHODH,"Dihydroorotate dehydrogenase (quinone), mitochondrial",Tier 1,0.6,1,B_cargo,100,96.12,0,0,,,1,1,29626096,0,postaxial acrofacial dysostosis,0.8330628404263816
Q7Z2E3,APTX,Aprataxin,Tier 1,0.6,1,B_cargo,11,80.75,0,0,,,0,0,,0,"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",0.832110422501825
Q13402,MYO7A,Unconventional myosin-VIIa,Tier 1,0.6,1,B_cargo,1,77.25,0,0,,,0,0,,0,Usher syndrome type 1B,0.8326791560829035
P49715,CEBPA,CCAAT/enhancer-binding protein alpha,Tier 1,0.6,1,B_cargo,2,61.69,0,0,,,1,7,"38965606,30909853,31546149,30795863,28639199,26983359",0,acute myeloid leukemia,0.8336701187896877
Q2TBA0,KLHL40,Kelch-like protein 40,Tier 1.5,0.6,1,B_cargo,1,89.44,0,0,,,0,0,,0,nemaline myopathy 8,0.8348979900805442
Q9BY41,HDAC8,Histone deacetylase 8,Tier 1,0.599,1,B_cargo,53,95.31,0,0,,,0,0,,0,Cornelia de Lange syndrome,0.8312421317616957
O14832,PHYH,"Phytanoyl-CoA dioxygenase, peroxisomal",Tier 1,0.598,1,B_cargo,1,85.44,0,0,,,0,0,,0,Refsum disease,0.8265474775217052
P22557,ALAS2,"5-aminolevulinate synthase, erythroid-specific, mitochondrial",Tier 1,0.598,1,B_cargo,27,82.19,0,0,,,0,0,,0,X-linked sideroblastic anemia 1,0.8266521651625864
P41235,HNF4A,Hepatocyte nuclear factor 4-alpha,Tier 1,0.598,1,B_cargo,8,73.88,0,0,,,1,1,37016361,0,MODY,0.8258786338560885
Q14191,WRN,Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN,Tier 1,0.598,1,B_cargo,42,68.62,0,0,,,1,1,27332117,0,Werner syndrome,0.8278730962406992
O94761,RECQL4,ATP-dependent DNA helicase Q4,Tier 1,0.598,1,B_cargo,2,67.38,0,0,,,1,1,31495919,0,Rothmund-Thomson syndrome type 2,0.8261878622968941
Q9H3D4,TP63,Tumor protein 63,Tier 1,0.598,1,B_cargo,26,63.19,0,0,,,1,1,17563751,0,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",0.8281511708882607
Q9UMN6,KMT2B,Histone-lysine N-methyltransferase 2B,Tier 1,0.598,1,B_cargo,4,,0,0,,,0,0,,0,"dystonia 28, childhood-onset",0.8253090908207902
P31271,HOXA13,Homeobox protein Hox-A13,Tier 1.5,0.598,1,B_cargo,1,54.28,0,0,,,0,0,,0,hand-foot-genital syndrome,0.8270145658663097
Q13485,SMAD4,SMAD family member 4,Tier 1.5,0.598,1,B_cargo,12,73.38,0,0,,,1,10,"39602246,35356877,33124760,32456365,31876518,29632714,27843907,21266541,17132729,16775010",0,juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,0.8277625447220475
Q99593,TBX5,T-box transcription factor TBX5,Tier 1.5,0.598,1,B_cargo,4,62.66,0,0,,,0,0,,0,Holt-Oram syndrome,0.827317913681364
P11473,VDR,Vitamin D3 receptor,Tier 1,0.597,1,B_cargo,52,83.56,0,0,,,0,0,,0,Hypocalcemic vitamin D-resistant rickets,0.8226576498848421
Q8IWS0,PHF6,PHD finger protein 6,Tier 1,0.597,1,B_cargo,2,73.44,0,0,,,0,0,,0,Borjeson-Forssman-Lehmann syndrome,0.8219833984621376
P13686,ACP5,Tartrate-resistant acid phosphatase type 5,Tier 1.5,0.597,1,B_cargo,2,94.62,0,0,,,1,2,30537181,0,Spondyloenchondrodysplasia with immune dysregulation,0.8234579245679164
Q96GM8,TOE1,Target of EGR1 protein 1,Tier 1.5,0.597,1,B_cargo,1,77.75,0,0,,,0,0,,0,pontocerebellar hypoplasia type 7,0.824632140055663
Q9UH77,KLHL3,Kelch-like protein 3,Tier 1.5,0.597,1,B_cargo,3,90.5,0,0,,,0,0,,0,pseudohypoaldosteronism type 2D,0.8246213773832068
P28069,POU1F1,Pituitary-specific positive transcription factor 1,Tier 1.5,0.596,1,B_cargo,1,67.75,0,0,,,0,0,,0,"pituitary hormone deficiency, combined, 1",0.8206947239178665
Q99453,PHOX2B,Paired mesoderm homeobox protein 2B,Tier 1.5,0.596,1,B_cargo,5,59.78,0,0,,,0,0,,0,"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease",0.8208322275185037
Q9H334,FOXP1,Forkhead box protein P1,Tier 1.5,0.596,1,B_cargo,1,57.94,0,0,,,0,0,,0,intellectual disability-severe speech delay-mild dysmorphism syndrome,0.8203183311387787
Q7Z4S6,KIF21A,Kinesin-like protein KIF21A,Tier 1,0.595,1,B_cargo,5,70.56,0,0,,,0,0,,0,congenital fibrosis of the extraocular muscles,0.8179974657616618
P23769,GATA2,Endothelial transcription factor GATA-2,Tier 1,0.595,1,B_cargo,2,56.38,0,0,,,0,0,,0,monocytopenia with susceptibility to infections,0.8174326010603342