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
P14136,GFAP,Glial fibrillary acidic protein,Tier 1.5,0.761,1,B_cargo,1,80.0,0,0,,,1,4,"42022738,40983220,27924617,27399849",1,Alexander disease,0.8713727112153956
P00480,OTC,"Ornithine transcarbamylase, mitochondrial",Tier 1.5,0.76,1,B_cargo,4,92.19,0,0,,,1,71,"42031033,41819402,41207276,41033028,40970979,40801924,40719766,40644866,40602786,40187287,40064103,40015047,39904249,39644528,39571486,39275399,39030014,38504447,38193253,37459789,37364386,37103619,36891736,36618689,36454704,36403375,35884270,35672499,35006795,34973550,34821674,34684942,34152736,33812186,33035887,32862845,32768827,32674777,31673790,31580049,31325751,31016392,30837641,30778448,30594079,30426224,30202432,30128033,29937498,28578167",1,ornithine carbamoyltransferase deficiency,0.8675763935672858
P11532,DMD,Dystrophin,Tier 1.5,0.76,1,B_cargo,6,76.38,0,0,,,1,32,"41983899,41503480,41083485,40396427,39910928,39469668,38050701,37765072,37261868,34876524,34693888,34440571,34075115,33617542,32592467,28315675,28252048,27530235,27173731,26594036,26163061,26039989,21838691,20962041,17011811,38448545",1,Duchenne muscular dystrophy,0.865885140119287
P05165,PCCA,"Propionyl-CoA carboxylase alpha chain, mitochondrial",Tier 1.5,0.756,1,B_cargo,25,87.44,1,0,,,1,1,36578103,1,propionic acidemia,0.8530542602972598
P35475,IDUA,Alpha-L-iduronidase,Tier 1.5,0.755,1,B_cargo,11,94.75,0,0,,,1,1,18838694,1,Scheie syndrome,0.8500187612858606
P26440,IVD,"Isovaleryl-CoA dehydrogenase, mitochondrial",Tier 1.5,0.754,1,B_cargo,5,93.38,1,0,,,1,2,"41230502,26946282",1,isovaleric acidemia,0.8480603595890895
P48637,GSS,Glutathione synthetase,Tier 1.5,0.754,1,B_cargo,2,94.94,0,0,,,1,1,24296062,1,Glutathione synthetase deficiency,0.8480115629745476
P50897,PPT1,Palmitoyl-protein thioesterase 1,Tier 1.5,0.752,1,B_cargo,1,91.69,0,0,,,1,2,33112630,1,neuronal ceroid lipofuscinosis 1,0.8400332147230634
P50416,CPT1A,"Carnitine O-palmitoyltransferase 1, liver isoform",Tier 1.5,0.751,1,B_cargo,1,92.44,0,0,,,1,1,29325019,1,carnitine palmitoyl transferase 1A deficiency,0.8360102017303558
P48728,AMT,"Aminomethyltransferase, mitochondrial",Tier 1.5,0.749,1,B_cargo,2,93.69,0,0,,,1,6,"41360349,38751431,36935143,32969502,32779681,32062632",1,glycine encephalopathy,0.8307194416875259
P55157,MTTP,Microsomal triglyceride transfer protein large subunit,Tier 1.5,0.748,1,B_cargo,2,86.56,1,0,,,1,1,23770039,1,abetalipoproteinemia,0.8281089516017405
Q53H12,AGK,"Acylglycerol kinase, mitochondrial",Tier 1.5,0.747,1,B_cargo,1,87.0,1,0,,,1,1,35763566,1,Sengers syndrome,0.8231275438888749
P42224,STAT1,Signal transducer and activator of transcription 1-alpha/beta,Tier 1.5,0.744,1,B_cargo,10,87.25,1,0,,,1,5,"41290466,38569854,31879964,31702021,21433395",1,Chronic mucocutaneous candidosis,0.8147374964880533
P09936,UCHL1,Ubiquitin carboxyl-terminal hydrolase isozyme L1,Tier 1.5,0.741,1,B_cargo,14,93.62,0,0,,,1,2,30863411,1,early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,0.8048623975346616
P43007,SLC1A4,Neutral amino acid transporter A,Tier 1.5,0.741,1,B_cargo,1,80.56,1,0,,,1,6,"36219068,31989939,27571928,26811678,19046328,16139842",1,spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,0.8025684205131692
Q6NUK1,SLC25A24,Mitochondrial adenyl nucleotide antiporter SLC25A24,Tier 1.5,0.74,1,B_cargo,3,81.31,0,0,,,1,1,41871245,1,Fontaine progeroid syndrome,0.7984507086824493
P98155,VLDLR,Very low-density lipoprotein receptor,Tier 1.5,0.737,1,B_cargo,27,75.69,1,0,,,1,1,19188685,1,Dysequilibrium syndrome,0.790164037509625
P21397,MAOA,Amine oxidase [flavin-containing] A,Tier 1.5,0.733,1,B_cargo,4,97.0,0,0,,,1,2,"36795559,26841904",1,Brunner syndrome,0.7777423430063588
Q15813,TBCE,Tubulin-specific chaperone E,Tier 1.5,0.732,1,B_cargo,6,89.19,1,0,,,1,1,34448574,1,hypoparathyroidism-retardation-dysmorphism syndrome,0.7744447925917005
Q01105,SET,Protein SET,Tier 1.5,0.73,1,B_cargo,3,77.62,0,0,,,1,556,"42039565,41993416,41969971,41928908,41902675,41898181,41881226,41770599,41761637,41666037,41644952,41542672,41498743,41486176,41405351,41226313,41207276,41169591,41135899,41099717,41020397,40892043,40808600,40710098,40706113,40656531,40618375,40598898,40394224,40362575,40333723,40313273,40306472,40270429,40259434,40245514,40243681,40220375,40215752,40212654,40209705,40083221,39971069,39959072,39954262,39939919,39865031,39832878,39803439,39744100,30485711",1,"intellectual disability, autosomal dominant 58",0.7663060887583324
P50461,CSRP3,Cysteine and glycine-rich protein 3,Tier 1.5,0.728,1,B_cargo,2,73.44,0,0,,,1,1,29222138,1,dilated cardiomyopathy 1M,0.7615568697921314
Q13043,STK4,Serine/threonine-protein kinase 4,Tier 1.5,0.728,1,B_cargo,16,75.94,1,0,,,1,1,31707227,1,combined immunodeficiency due to STK4 deficiency,0.7613382040802787
Q16719,KYNU,Kynureninase,Tier 1.5,0.726,1,B_cargo,3,95.44,0,0,,,1,2,39045230,1,"vertebral, cardiac, renal, and limb defects syndrome 2",0.7538237163234831
P07237,P4HB,Protein disulfide-isomerase,Tier 1.5,0.723,1,B_cargo,14,88.5,1,0,,,1,2,"31625090,28952381",1,Cole-Carpenter syndrome,0.7447295842045853
Q15796,SMAD2,SMAD family member 2,Tier 1.5,0.72,1,B_cargo,10,77.62,0,0,,,1,7,"37415558,35356877,33124760,22899759,21266541,16775010,11856769",1,Loeys-Dietz syndrome 6,0.7333699386757103
Q9NXG6,P4HTM,Transmembrane prolyl 4-hydroxylase,Tier 1.5,0.717,1,B_cargo,1,81.06,0,0,,,1,1,28685750,1,"hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities",0.7218110110850424
Q13158,FADD,FAS-associated death domain protein,Tier 1.5,0.708,1,B_cargo,18,72.12,1,0,,,1,3,"36309655,30594071,26318819",1,FADD-related immunodeficiency,0.6932338529214827
P23458,JAK1,Tyrosine-protein kinase JAK1,Tier 1.5,0.706,1,B_cargo,51,85.56,0,0,,,1,2,"41290466,20711698",1,rheumatoid arthritis,0.6871251698480906
Q9H082,RAB33B,Ras-related protein Rab-33B,Tier 1.5,0.702,1,B_cargo,2,80.62,0,0,,,1,3,"34248841,32838280,29754498",1,Smith-McCort dysplasia 2,0.6718069684124652
P06401,PGR,Progesterone receptor,Tier 1.5,0.701,1,B_cargo,20,56.16,0,0,,,1,11,"31226842,25461163,41716468,41535871,41318995,39719189,39028987,38802696,38512151,36001395,30428522",1,endometriosis,0.669096724339783
Q05655,PRKCD,Protein kinase C delta type,Tier 1.5,0.7,1,B_cargo,2,80.69,0,0,,,1,2,"29961347,29754498",1,autoimmune lymphoproliferative syndrome,0.6669954888212556
Q13423,NNT,"NAD(P) transhydrogenase, mitochondrial",Tier 1.5,0.692,1,B_cargo,3,90.88,0,0,,,1,3,"40903908,36413497,18425911",1,familial glucocorticoid deficiency,0.638839481734631
P35354,PTGS2,Prostaglandin G/H synthase 2,Tier 1.5,0.69,1,B_cargo,7,93.0,0,0,,,1,7,"39503504,38959476,33230429,22544606,19723884,17909039,31482734",1,rheumatoid arthritis,0.6335569514731725
P17096,HMGA1,High mobility group protein HMG-I/HMG-Y,Tier 1.5,0.674,1,B_cargo,5,65.0,0,0,,,1,4,"41871245,31538905,20961861,19956671",1,HIV infection,0.5809402815127065
Q01518,CAP1,Adenylyl cyclase-associated protein 1,Tier 1.5,0.668,1,B_cargo,5,81.75,1,0,,,1,1,37614296,1,neurodegenerative disease,0.5608927359093832
P57075,UBASH3A,Ubiquitin-associated and SH3 domain-containing protein A,Tier 1.5,0.667,1,B_cargo,2,82.25,0,0,,,1,1,41680500,1,rheumatoid arthritis,0.5578057740717796
P09668,CTSH,Pro-cathepsin H,Tier 1.5,0.664,1,B_cargo,2,93.88,0,0,,,1,1,38811951,1,type 1 diabetes mellitus,0.5481319551898879
Q7Z3B1,NEGR1,Neuronal growth regulator 1,Tier 1.5,0.663,1,B_cargo,2,81.62,0,0,,,1,1,29754498,1,intelligence,0.544218102469465
P12270,TPR,Nucleoprotein TPR,Tier 1.5,0.663,1,B_cargo,4,60.5,0,0,,,1,1,33217386,1,HIV infection,0.5418451313960712
Q96RS0,TGS1,Trimethylguanosine synthase,Tier 1.5,0.661,1,B_cargo,2,59.94,0,0,,,1,1,27572987,1,neurodegenerative disease,0.5358070245955443
P37802,TAGLN2,Transgelin-2,Tier 1.5,0.658,1,B_cargo,1,88.12,0,0,,,1,3,"41358073,32527800",1,neurodegenerative disease,0.5261379875719714
Q13794,PMAIP1,Phorbol-12-myristate-13-acetate-induced protein 1,Tier 1.5,0.658,1,B_cargo,1,81.94,0,0,,,1,1,21616931,1,neurodegenerative disease,0.527389679534353
Q16798,ME3,"NADP-dependent malic enzyme, mitochondrial",Tier 1.5,0.658,1,B_cargo,5,91.69,1,0,,,1,1,39602246,1,open-angle glaucoma,0.5259955902523525
O15067,PFAS,Phosphoribosylformylglycinamidine synthase,Tier 1.5,0.656,1,B_cargo,3,92.31,1,0,,,1,10,"41934998,41928580,40936959,40862935,40772729,40658928,39110961,38202993,37051269,34991260",1,dyskeratosis congenita,0.5199677146803817
Q6FI81,CIAPIN1,Anamorsin,Tier 1.5,0.654,1,B_cargo,3,80.19,0,0,,,1,1,40506465,1,neurodegenerative disease,0.5125028552204193
P32119,PRDX2,Peroxiredoxin-2,Tier 1.5,0.654,1,B_cargo,7,97.75,0,0,,,1,2,41097770,1,neurodegenerative disease,0.5148660529122818
Q7L7L0,H2AC25,Histone H2A type 3,Tier 1.5,0.651,1,B_cargo,2,90.94,1,0,,,1,2,"38045440,37593997",1,infectious disease,0.5030392466541774
O15021,MAST4,Microtubule-associated serine/threonine-protein kinase 4,Tier 1.5,0.649,1,B_cargo,1,42.53,0,0,,,1,1,18376136,1,Neurodevelopmental disorder,0.4951959408492021
P16455,MGMT,Methylated-DNA--protein-cysteine methyltransferase,Tier 1.5,0.647,1,B_cargo,21,85.12,1,0,,,1,4,"41951573,38806504,31601097,28499389",1,Abnormality of the skeletal system,0.49129662019672776
P84090,ERH,Enhancer of rudimentary homolog,Tier 1.5,0.646,1,B_cargo,4,95.94,0,0,,,1,1,41785608,1,neurodegenerative disease,0.48655131342191105