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
Q13315,ATM,Serine-protein kinase ATM,Tier 1,0.613,1,B_cargo,14,,1,0,,,1,9,"41867498,39253616,37656667,34733968,28838608,28706912,26176230,17386435,15181173",0,ataxia telangiectasia,0.8759719859489208
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
P35670,ATP7B,Copper-transporting ATPase 2,Tier 1,0.61,1,B_cargo,13,71.69,1,0,,,1,1,39737993,0,Wilson disease,0.8657500553466239
P35557,GCK,Hexokinase-4,Tier 1,0.609,1,B_cargo,35,93.69,0,0,,,0,0,,0,MODY,0.8633086470947097
O43602,DCX,Neuronal migration protein doublecortin,Tier 1,0.609,1,B_cargo,18,66.5,1,0,,,0,0,,0,lissencephaly type 1 due to doublecortin gene mutation,0.864453842605602
Q8NCM8,DYNC2H1,Cytoplasmic dynein 2 heavy chain 1,Tier 1.5,0.608,1,B_cargo,4,83.44,1,0,,,0,0,,0,asphyxiating thoracic dystrophy 3,0.8610362911667925
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
O14746,TERT,Telomerase reverse transcriptase,Tier 1,0.607,1,B_cargo,23,80.19,1,0,,,1,13,"41104418,40347637,40062394,39513874,39441744,37427434,36005058,35658460,33476148,28004350,24176970,22013508",0,"dyskeratosis congenita, autosomal dominant 2",0.8577919827748599
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
Q9Y6K1,DNMT3A,DNA (cytosine-5)-methyltransferase 3A,Tier 1,0.605,1,B_cargo,43,72.94,1,0,,,1,3,"39079576,31733056,23179556",0,acute myeloid leukemia,0.8505245588442946
Q3T906,GNPTAB,N-acetylglucosamine-1-phosphotransferase subunits alpha/beta,Tier 1,0.605,1,B_cargo,5,71.62,1,0,,,0,0,,0,"mucolipidosis type III, alpha/beta",0.8490445308315259
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
Q96RY7,IFT140,Intraflagellar transport protein 140 homolog,Tier 1,0.604,1,B_cargo,4,80.12,1,0,,,0,0,,0,short-rib thoracic dysplasia 9 with or without polydactyly,0.8464676938353167
P54098,POLG,DNA polymerase subunit gamma-1,Tier 1,0.604,1,B_cargo,36,78.94,1,0,,,0,0,,0,mitochondrial DNA depletion syndrome 4a,0.8474167021250057
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
O15360,FANCA,Fanconi anemia group A protein,Tier 1,0.604,1,B_cargo,6,74.88,1,0,,,0,0,,0,Fanconi anemia complementation group A,0.8469248580955555
Q92574,TSC1,Hamartin,Tier 1,0.604,1,B_cargo,5,62.06,1,0,,,1,1,18974095,0,tuberous sclerosis,0.8476796313298992
Q2NKJ3,CTC1,CST complex subunit CTC1,Tier 1,0.603,1,B_cargo,7,77.5,1,0,,,0,0,,0,Coats plus syndrome,0.8438631461095314
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
Q2M1P5,KIF7,Kinesin-like protein KIF7,Tier 1.5,0.603,1,B_cargo,5,67.19,1,0,,,0,0,,0,acrocallosal syndrome,0.8424257475739304
O60931,CTNS,Cystinosin,Tier 1.5,0.603,1,B_cargo,6,89.44,1,0,,,0,0,,0,nephropathic cystinosis,0.841818398377195
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
Q12879,GRIN2A,"Glutamate receptor ionotropic, NMDA 2A",Tier 1,0.602,1,B_cargo,37,60.84,1,0,,,0,0,,0,Landau-Kleffner syndrome,0.8407159711916629
P38398,BRCA1,Breast cancer type 1 susceptibility protein,Tier 1,0.602,1,B_cargo,33,41.59,1,0,,,1,13,"40251554,37288783,36858016,32945515,32245065,29737162,28841982,26784987,24734899,23836560,21800393,16825284",0,breast cancer,0.839035109761358
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
Q9HBG6,IFT122,Intraflagellar transport protein 122 homolog,Tier 1.5,0.602,1,B_cargo,5,82.88,1,0,,,0,0,,0,cranioectodermal dysplasia,0.8402296001002503
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
Q5S007,LRRK2,Leucine-rich repeat serine/threonine-protein kinase 2,Tier 1,0.6,1,B_cargo,44,77.5,1,0,,,1,4,"38467937,37586882,37422510,36774388",0,Hereditary late-onset Parkinson disease,0.8349742982582067
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
Q15910,EZH2,Histone-lysine N-methyltransferase EZH2,Tier 1,0.6,1,B_cargo,38,76.25,1,0,,,1,8,"41574287,41223251,40931580,39853766,36626902,32884286,30795863,27719642",0,Weaver syndrome,0.8324078192564933
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
Q9BXW9,FANCD2,Fanconi anemia group D2 protein,Tier 1.5,0.6,1,B_cargo,13,76.75,1,0,,,0,0,,0,Fanconi anemia complementation group D2,0.8319139646572291
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