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
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
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
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
Q92574,TSC1,Hamartin,Tier 1,0.604,1,B_cargo,5,62.06,1,0,,,1,1,18974095,0,tuberous sclerosis,0.8476796313298992
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
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
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
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
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
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
Q05066,SRY,Sex-determining region Y protein,Tier 1.5,0.599,1,B_cargo,10,67.62,1,0,,,1,1,40082426,0,"46,XY sex reversal 1",0.8290523705747719
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
P48431,SOX2,Transcription factor SOX-2,Tier 1,0.598,1,B_cargo,13,59.84,1,0,,,1,13,"41377018,40082426,37891174,37370863,36284815,34405338,31991109,31301870,28988933,26176230,23892456,18490265,15863505",0,anophthalmia/microphthalmia-esophageal atresia syndrome,0.8263477268235936
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
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
Q9BYX4,IFIH1,Interferon-induced helicase C domain-containing protein 1,Tier 1.5,0.597,1,B_cargo,9,79.44,1,0,,,1,1,18983163,0,Aicardi-Goutieres syndrome 7,0.8235229759148853
Q8NB91,FANCB,Fanconi anemia group B protein,Tier 1,0.596,1,B_cargo,6,71.0,1,0,,,1,1,23836560,0,Fanconi anemia,0.8195998375932156
Q9NZJ4,SACS,Sacsin,Tier 1,0.595,1,B_cargo,7,,0,0,,,1,5,"41610745,40771130,39719055,33584503",0,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,0.8179172286536236
P49638,TTPA,Alpha-tocopherol transfer protein,Tier 1,0.594,1,B_cargo,6,94.12,0,0,,,1,20,"41699153,41371773,38963794,36882463,36203210,35563278,33918821,31870256,30197987,30015643,28051346,26876003,25855589,24922319,21142878,20594164,20387790,20050927,19485299,18713263",0,Ataxia with vitamin E deficiency,0.8129089189782969
P61244,MAX,Protein max,Tier 1,0.593,1,B_cargo,12,81.31,1,0,,,1,288,"41934996,41833970,41619462,41469028,41439640,41422825,41237904,41213249,41083647,41002303,40921876,40905551,40902004,40864593,40850274,40840129,40642767,40491004,40383336,40356230,40164941,40097648,40011207,39923524,39890743,39852074,39828650,39630145,39605530,39566329,39420595,39360861,39225197,39117896,39115976,39103298,39056617,38968658,38920574,38907914,38899396,38846799,38682443,38573322,38542416,38385442,38359718,38348887,38217658,38103284",0,pheochromocytoma,0.8086574254358271
P04198,MYCN,N-myc proto-oncogene protein,Tier 1.5,0.593,1,B_cargo,2,60.16,0,0,,,1,3,"38074684,34703655,23243020",0,Feingold syndrome type 1,0.8115451687313872
Q9NZC2,TREM2,Triggering receptor expressed on myeloid cells 2,Tier 1,0.592,1,B_cargo,15,76.75,0,0,,,1,5,"39695715,35147513,35144252",0,Nasu-Hakola disease,0.8076185000216165
Q09472,EP300,Histone acetyltransferase p300,Tier 1,0.591,1,B_cargo,60,53.25,1,0,,,1,2,"39429683,28539359",0,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,0.8025866884926094
Q03164,KMT2A,Histone-lysine N-methyltransferase 2A,Tier 1,0.591,1,B_cargo,60,,1,0,,,1,1,33606679,0,Wiedemann-Steiner syndrome,0.802084366673722
P51530,DNA2,DNA replication ATP-dependent helicase/nuclease DNA2,Tier 1.5,0.591,1,B_cargo,1,87.81,0,0,,,1,79,"41919953,40756646,40549055,40280078,40067128,39933341,39701233,39400726,39339485,39263860,39196429,38844882,38240894,38219326,38057050,38015452,37991343,37955623,37604608,37499488,37470836,36958207,36809725,36242904,36178489,36150338,35491044,35384954,35176850,35093773,33676715,33496853,33415103,33217231,32800122,32601890,32475386,32200901,31706177,31561796,31278549,31276907,31159934,30952252,30904620,30862445,30609356,30209628,30172325,29884355",0,mitochondrial DNA deletion syndrome with progressive myopathy,0.8039462281320306
P28329,CHAT,Choline O-acetyltransferase,Tier 1,0.59,1,B_cargo,7,83.94,0,0,,,1,1,38780008,0,Congenital myasthenic syndromes,0.80158576006834
Q9NRG9,AAAS,Aladin,Tier 1.5,0.59,1,B_cargo,2,75.25,1,0,,,1,2,"39798364,30768874",0,triple-A syndrome,0.8009946434571534
P17735,TAT,Tyrosine aminotransferase,Tier 1.5,0.59,1,B_cargo,1,91.75,0,0,,,1,116,"42052694,41392711,41107360,41026857,40789888,40681131,40125796,40063097,39876991,39558155,39335496,39318271,39167715,38924638,38501479,38054213,37240414,36879476,36832059,36642821,36576612,36475447,36277654,36209487,36198145,35654302,35364795,33981364,33909408,33155468,33149582,32976590,32250590,32147886,32100315,32061015,32051269,31975549,31881749,31880928,31707021,35345244,31243610,30976173,30540162,30529550,30350592,30285239,30198708,29464116",0,tyrosinemia type II,0.7986496109306669
Q9NUX5,POT1,Protection of telomeres protein 1,Tier 1,0.589,1,B_cargo,14,87.38,1,0,,,1,3,"41867726,25934589,21772997",0,tumor predisposition syndrome 3,0.7983039512174813
Q9UMX1,SUFU,Suppressor of fused homolog,Tier 1,0.589,1,B_cargo,10,82.31,0,0,,,1,1,18698484,0,medulloblastoma,0.7957650276957399
O43766,LIAS,"Lipoyl synthase, mitochondrial",Tier 1,0.589,1,B_cargo,5,81.19,0,0,,,1,1,32329602,0,lipoic acid synthetase deficiency,0.7951307244152087
O14770,MEIS2,Homeobox protein Meis2,Tier 1.5,0.588,1,B_cargo,4,61.97,0,0,,,1,2,41495882,0,"cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",0.7938323593532864
P05129,PRKCG,Protein kinase C gamma type,Tier 1,0.587,1,B_cargo,2,81.44,0,0,,,1,1,33334063,0,spinocerebellar ataxia type 14,0.7904034101945372
P46527,CDKN1B,Cyclin-dependent kinase inhibitor 1B,Tier 1,0.587,1,B_cargo,19,69.25,1,0,,,1,1,20191379,0,multiple endocrine neoplasia type 4,0.7896116263348134
P49711,CTCF,Transcriptional repressor CTCF,Tier 1,0.587,1,B_cargo,21,58.81,1,0,,,1,5,"41955940,41430607,35927613,31288216,20435085",0,CTCF-related neurodevelopmental disorder,0.7903743707735115