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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Q86XE5,HOGA1,"4-hydroxy-2-oxoglutarate aldolase, mitochondrial",Tier 1,0.594,1,B_cargo,2,92.69,0,0,,,0,0,,0,primary hyperoxaluria type 3,0.8135667789275441
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
Q8WWQ0,PHIP,PH-interacting protein,Tier 1,0.594,1,B_cargo,100,66.06,0,0,,,0,0,,0,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,0.814586276955991