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
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
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
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
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
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
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
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
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
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
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
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
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
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
Q96SD1,DCLRE1C,Protein artemis,Tier 1,0.598,1,B_cargo,14,69.44,1,0,,,0,0,,0,severe combined immunodeficiency due to DCLRE1C deficiency,0.826513936982479
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
Q9Y253,POLH,DNA polymerase eta,Tier 1,0.597,1,B_cargo,100,76.88,1,0,,,0,0,,0,xeroderma pigmentosum variant type,0.8236705244099821
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
P40879,SLC26A3,Chloride anion exchanger,Tier 1,0.596,1,B_cargo,13,85.06,1,0,,,0,0,,0,congenital secretory chloride diarrhea 1,0.8189631913308207
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
Q9UJQ4,SALL4,Sal-like protein 4,Tier 1,0.595,1,B_cargo,13,51.06,1,0,,,0,0,,0,Duane-radial ray syndrome,0.8169322292438749
P29033,GJB2,Gap junction beta-2 protein,Tier 1,0.594,1,B_cargo,24,86.19,1,0,,,0,0,,0,palmoplantar keratoderma-deafness syndrome,0.8149616697051898
Q9BQ52,ELAC2,Zinc phosphodiesterase ELAC protein 2,Tier 1,0.594,1,B_cargo,10,82.81,1,0,,,0,0,,0,combined oxidative phosphorylation defect type 17,0.8142476181884984
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
Q9UPT6,MAPK8IP3,C-Jun-amino-terminal kinase-interacting protein 3,Tier 1,0.593,1,B_cargo,5,62.03,1,0,,,0,0,,0,neurodevelopmental disorder with or without variable brain abnormalities; NEDBA,0.8115235837032309
Q8WVM7,STAG1,Cohesin subunit SA-1,Tier 1,0.592,1,B_cargo,20,78.56,1,0,,,0,0,,0,"intellectual disability, autosomal dominant 47",0.8075622605545107
Q5TBB1,RNASEH2B,Ribonuclease H2 subunit B,Tier 1,0.592,1,B_cargo,4,76.31,1,0,,,0,0,,0,Aicardi-Goutières syndrome,0.8070167548553762
Q8IXJ9,ASXL1,Polycomb group protein ASXL1,Tier 1.5,0.592,1,B_cargo,4,42.22,1,0,,,0,0,,0,Bohring-Opitz syndrome,0.8082443730060624
Q9NW38,FANCL,E3 ubiquitin-protein ligase FANCL,Tier 1.5,0.592,1,B_cargo,8,91.31,1,0,,,0,0,,0,Fanconi anemia complementation group L,0.8062585405338945
Q13635,PTCH1,Protein patched homolog 1,Tier 1,0.591,1,B_cargo,16,73.88,1,0,,,0,0,,0,nevoid basal cell carcinoma syndrome,0.8042006866265059
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
Q9UJV9,DDX41,Probable ATP-dependent RNA helicase DDX41,Tier 1,0.59,1,B_cargo,5,77.94,1,0,,,0,0,,0,DDX41-related hematologic malignancy predisposition syndrome,0.8011142376308067
Q7Z6J9,TSEN54,tRNA-splicing endonuclease subunit Sen54,Tier 1,0.59,1,B_cargo,5,72.38,1,0,,,0,0,,0,pontocerebellar hypoplasia type 4,0.8013423073419832
Q13415,ORC1,Origin recognition complex subunit 1,Tier 1,0.59,1,B_cargo,14,67.38,1,0,,,0,0,,0,Ear-patella-short stature syndrome,0.7989950785999808
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
P49917,LIG4,DNA ligase 4,Tier 1,0.589,1,B_cargo,31,88.19,1,0,,,0,0,,0,LIG4 syndrome,0.7958751373450337
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
P46020,PHKA1,"Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform",Tier 1.5,0.589,1,B_cargo,10,81.69,1,0,,,0,0,,0,glycogen storage disease IXd,0.7957863874816654
Q8WX94,NLRP7,"NACHT, LRR and PYD domains-containing protein 7",Tier 1.5,0.589,1,B_cargo,3,82.25,1,0,,,0,0,,0,"hydatidiform mole, recurrent, 1",0.7978415742308576
Q96EX3,DYNC2I2,Cytoplasmic dynein 2 intermediate chain 2,Tier 1,0.588,1,B_cargo,4,82.06,1,0,,,0,0,,0,"Short rib-polydactyly syndrome, Verma-Naumoff type",0.7942611241080781
O96028,NSD2,Histone-lysine N-methyltransferase NSD2,Tier 1,0.588,1,B_cargo,19,65.62,1,0,,,0,0,,0,Rauch-Steindl syndrome,0.7919900106594773
Q9UBR1,UPB1,Beta-ureidopropionase,Tier 1.5,0.588,1,B_cargo,2,97.0,1,0,,,0,0,,0,beta-ureidopropionase deficiency,0.7918900848494692