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
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
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
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
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
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
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
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
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
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
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
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
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
O15259,NPHP1,Nephrocystin-1,Tier 1.5,0.594,1,B_cargo,2,75.88,0,0,,,0,0,,0,nephronophthisis 1,0.8140254888983035
Q53S33,BOLA3,BolA-like protein 3,Tier 1.5,0.594,1,B_cargo,1,80.94,0,0,,,0,0,,0,multiple mitochondrial dysfunctions syndrome 2,0.8146596253409263
P41229,KDM5C,Lysine-specific demethylase 5C,Tier 1.5,0.594,1,B_cargo,2,71.94,0,0,,,0,0,,0,syndromic X-linked intellectual disability Claes-Jensen type,0.8149829731199962
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
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
Q9BSI4,TINF2,TERF1-interacting nuclear factor 2,Tier 1.5,0.592,1,B_cargo,3,60.56,0,0,,,0,0,,0,"dyskeratosis congenita, autosomal dominant 3",0.8076730158243078
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
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
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
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
Q9ULV5,HSF4,Heat shock factor protein 4,Tier 1.5,0.589,1,B_cargo,2,59.59,0,0,,,0,0,,0,cataract 5 multiple types,0.7953462784936949
O60281,ZNF292,Zinc finger protein 292,Tier 1.5,0.588,1,B_cargo,2,46.91,0,0,,,0,0,,0,"intellectual developmental disorder, autosomal dominant 64",0.7931698496364843
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
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
Q00973,B4GALNT1,"Beta-1,4 N-acetylgalactosaminyltransferase 1",Tier 1.5,0.588,1,B_cargo,3,88.69,0,0,,,0,0,,0,hereditary spastic paraplegia 26,0.7949291425747776
P19532,TFE3,Transcription factor E3,Tier 1.5,0.587,1,B_cargo,1,58.66,0,0,,,0,0,,0,"intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies",0.7894865093321197
Q9Y2M0,FAN1,Fanconi-associated nuclease 1,Tier 1.5,0.587,1,B_cargo,18,69.88,1,0,,,0,0,,0,karyomegalic interstitial nephritis,0.7887103269780822
P81274,GPSM2,G-protein-signaling modulator 2,Tier 1.5,0.587,1,B_cargo,7,66.94,0,0,,,0,0,,0,Chudley-McCullough syndrome,0.7892319521351122
A6NGG8,PCARE,Photoreceptor cilium actin regulator,Tier 1.5,0.586,1,B_cargo,1,43.78,0,0,,,0,0,,0,retinitis pigmentosa,0.7851829492847434
O15119,TBX3,T-box transcription factor TBX3,Tier 1.5,0.586,1,B_cargo,1,54.91,0,0,,,1,1,34873487,0,ulnar-mammary syndrome,0.7856453214934344
Q6PJG6,BRAT1,Integrator complex assembly factor BRAT1,Tier 1.5,0.586,1,B_cargo,5,84.81,1,0,,,0,0,,0,Lethal neonatal spasticity-epileptic encephalopathy syndrome,0.7870801460315344
O15409,FOXP2,Forkhead box protein P2,Tier 1.5,0.585,1,B_cargo,2,59.22,0,0,,,0,0,,0,childhood apraxia of speech,0.7839103460347123