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
P35520,CBS,Cystathionine beta-synthase,Tier 1,0.76,1,B_cargo,19,90.06,1,0,,,1,6,"41780400,40454747,39984441,39541715,30792407,8650546",1,classic homocystinuria,0.8675045223052872
P02545,LMNA,Prelamin-A/C,Tier 1,0.758,1,B_cargo,27,76.38,1,0,,,1,1,37565451,1,dilated cardiomyopathy,0.8593312064339074
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
P11413,G6PD,Glucose-6-phosphate 1-dehydrogenase,Tier 1,0.755,1,B_cargo,25,94.38,1,0,,,1,3,"41935727,20811084",1,"anemia, nonspherocytic hemolytic, due to G6PD deficiency",0.8516109113701843
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
Q15465,SHH,Sonic hedgehog protein,Tier 1,0.753,1,B_cargo,20,78.38,1,0,,,1,4,"33257185,32867229,18698484,38462144",1,holoprosencephaly 3,0.8433062137163501
P55265,ADAR,Double-stranded RNA-specific adenosine deaminase,Tier 1,0.752,1,B_cargo,24,68.38,1,0,,,1,8,"41910181,41791686,41772759,41497668,41267360,39673485,38583236,17000903",1,Aicardi-Goutieres syndrome 6,0.8388797454328872
P19429,TNNI3,"Troponin I, cardiac muscle",Tier 1,0.75,1,B_cargo,39,78.62,1,0,,,1,1,26594036,1,hypertrophic cardiomyopathy,0.8340329164680969
Q99714,HSD17B10,3-hydroxyacyl-CoA dehydrogenase type-2,Tier 1,0.749,1,B_cargo,15,96.88,1,0,,,1,1,17917077,1,HSD10 mitochondrial disease,0.828877258137219
P42345,MTOR,Serine/threonine-protein kinase mTOR,Tier 1,0.749,1,B_cargo,70,78.0,1,0,,,1,27,"41951939,41924451,41819327,41563473,40316188,39728786,37574619,35356877,34638443,34362425,33319976,33124760,32521684,32245065,32170897,31840081,33455222,28945233,28471660,25751060,25057446,24292708,24242861,22363130,22239618,19878313,17495522",1,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,0.8296449565554538
Q99707,MTR,Methionine synthase,Tier 1,0.748,1,B_cargo,9,87.5,1,0,,,1,1,25964329,1,methylcobalamin deficiency type cblG,0.8253271986114175
Q9Y3A5,SBDS,Ribosome maturation protein SBDS,Tier 1,0.748,1,B_cargo,6,74.06,1,0,,,1,1,19454024,1,Shwachman-Diamond syndrome,0.8282172244212194
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
P11498,PC,"Pyruvate carboxylase, mitochondrial",Tier 1,0.746,1,B_cargo,10,90.38,1,0,,,1,607,"42025735,42015877,41963040,41956254,41946336,41942404,41940259,41852458,41850902,41813080,41806728,41801682,41791686,41786503,41742365,41713118,41686726,41679186,41671824,41621292,41586771,41570502,41545126,41519040,41453347,41447218,41444487,41422636,41401493,41328792,41294729,41275818,41275550,41268823,41207524,41167900,41155928,41149351,41135241,41103270,41061457,41030495,41002305,40992058,40978513,40974925,40968085,40952515,40942102,40936186",1,pyruvate carboxylase deficiency disease,0.8195584644258792
Q13148,TARDBP,TAR DNA-binding protein 43,Tier 1,0.746,1,B_cargo,44,65.19,1,0,,,1,7,"39548508,34469713,26915990,37671010,35739092,23264567",1,amyotrophic lateral sclerosis,0.8196962822149189
P46531,NOTCH1,Neurogenic locus notch homolog protein 1,Tier 1,0.746,1,B_cargo,29,59.59,1,0,,,1,4,"38559166,34431568,33614227,28685750",1,Adams-Oliver syndrome,0.8199672000988557
P60709,ACTB,"Actin, cytoplasmic 1",Negative Control,0.745,1,B_cargo,30,95.19,1,0,,,1,3,"40413753,38783134,34598060",1,Baraitser-Winter syndrome 1,0.8169087711684756
P26358,DNMT1,DNA (cytosine-5)-methyltransferase 1,Tier 1,0.744,1,B_cargo,27,77.81,1,0,,,1,12,"41635784,39079576,38762976,36609400,31733056,29554483,23179556",1,"autosomal dominant cerebellar ataxia, deafness and narcolepsy",0.8134195803175972
P35637,FUS,RNA-binding protein FUS,Tier 1,0.744,1,B_cargo,23,53.59,1,0,,,1,8,"40394046,35592098,28701145,15132764,12927206",1,sporadic amyotrophic lateral sclerosis,0.8117088043931799
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
P07602,PSAP,Prosaposin,Tier 1,0.743,1,B_cargo,20,73.75,1,0,,,1,1,41889102,1,Gaucher disease due to saposin C deficiency,0.8100495894070405
Q13501,SQSTM1,Sequestosome-1,Tier 1,0.743,1,B_cargo,26,67.25,1,0,,,1,4,"40413753,32225060",1,amyotrophic lateral sclerosis,0.809360678421687
Q9UHD2,TBK1,Serine/threonine-protein kinase TBK1,Tier 1,0.742,1,B_cargo,25,89.69,1,0,,,1,1,40413753,1,frontotemporal dementia and/or amyotrophic lateral sclerosis 4,0.8079405505675022
P55072,VCP,Transitional endoplasmic reticulum ATPase,Tier 1,0.741,1,B_cargo,100,82.56,1,0,,,1,1,40972397,1,inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,0.8028131613498347
P05067,APP,Amyloid-beta precursor protein,Tier 1,0.741,1,B_cargo,100,67.38,1,0,,,1,63,"40845665,40781183,40398131,40392609,40168709,39916963,39815389,39609809,39558155,39462761,39293375,39224911,38895620,38476032,38397086,38256230,38101030,37791572,37770666,37504144,36963325,36709587,36651835,36149663,35910789,35762921,35546375,35215961,34832326,34696413,34282416,33756331,33657486,33334063,33104885,32905362,32339154,31641824,31606675,31560515,31513457,31259533,31192585,30959405,30715838,29193172,28965053,28054670,27834794,26476448",1,Alzheimer disease,0.8042536996738855
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
P37840,SNCA,Alpha-synuclein,Tier 1,0.74,1,B_cargo,100,75.19,1,0,,,1,62,"40140103,38917326,38397086,38256230,37586882,36403906,35164441,33079553,31627816,26096948,41212423,40914014,40602043,40489035,40337966,39777233,39377064,38728058,37956285,37821404,37782556,37534999,37506391,37433867,37160866,37037631,36774388,36348612,36339626,35994742,35861142,35581077,35500203,34410317,33934227,33889925,35019576,32349285,32292959,32129373,31900535,31886023,31825201,31437653,31207024,30278340,30051958,29858057,29700982,29104136,23264567",1,Hereditary late-onset Parkinson disease,0.8010568055473846
P43694,GATA4,Transcription factor GATA-4,Tier 1,0.739,1,B_cargo,3,57.22,1,0,,,1,1,37762684,1,atrial septal defect 2,0.7972225107836246
P02792,FTL,Ferritin light chain,Tier 1,0.738,1,B_cargo,16,96.69,1,0,,,1,1,37563071,1,hereditary hyperferritinemia with congenital cataracts,0.7935576882994914
P10515,DLAT,"Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial",Tier 1,0.738,1,B_cargo,13,72.0,1,0,,,1,1,41255424,1,pyruvate dehydrogenase E2 deficiency,0.7949601730853583
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
Q08209,PPP3CA,Protein phosphatase 3 catalytic subunit alpha,Tier 1,0.735,1,B_cargo,21,85.5,1,0,,,1,1,23579184,1,developmental and epileptic encephalopathy 91,0.7846168061843352
Q9NP81,SARS2,"Serine--tRNA ligase, mitochondrial",Tier 1,0.734,1,B_cargo,6,90.5,1,0,,,1,438,"41873762,41851736,41791686,41775871,41686152,41680122,41674662,41652223,41651417,41576434,41541792,41541267,41517950,41501248,41498844,41430764,41413958,41352973,41303663,41274248,41272150,41265758,41245639,41228803,41210733,41191496,41157905,41112192,41092787,41078774,41053637,41043050,41002345,40974925,40959948,40935807,40693866,40642289,40586934,40563445,40547623,40522066,40516427,40512469,40481269,40333723,40321580,40292706,40289185,40227272",1,hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,0.7805632256445381
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
Q7RTN6,STRADA,STE20-related kinase adapter protein alpha,Tier 1,0.728,1,B_cargo,4,80.0,1,0,,,1,7,"37175549,35456960,33676711,31862491,31822733,26264345,25636022",1,"polyhydramnios, megalencephaly, and symptomatic epilepsy",0.7604002763758355
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
P61011,SRP54,Signal recognition particle subunit SRP54,Tier 1,0.727,1,B_cargo,9,79.25,1,0,,,1,1,40172085,1,"neutropenia, severe congenital, 8, autosomal dominant",0.7555049061942504
P29992,GNA11,Guanine nucleotide-binding protein subunit alpha-11,Tier 1,0.726,1,B_cargo,13,92.94,1,0,,,1,1,40015005,1,Familial isolated hypoparathyroidism,0.752195363550312
P49257,LMAN1,Protein ERGIC-53,Tier 1,0.723,1,B_cargo,18,79.38,1,0,,,1,1,12604659,1,"factor V and factor VIII, combined deficiency of, type 1",0.7437604514578838
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
Q86WV6,STING1,Stimulator of interferon genes protein,Tier 1,0.722,1,B_cargo,100,83.75,1,0,,,1,10,"41781380,41742243,41657042,41543229,41125194,40476560,40413753,39922441,39586211,38898748",1,STING-associated vasculopathy with onset in infancy,0.740865633793155
Q9H6X2,ANTXR1,Anthrax toxin receptor 1,Tier 1,0.719,1,B_cargo,5,72.44,1,0,,,1,2,"25841381,38045440",1,GAPO syndrome,0.7284229063774266
P01344,IGF2,Insulin-like growth factor 2,Tier 1,0.719,1,B_cargo,16,59.03,1,0,,,1,13,"38059276,33977395,33467925,31570709,28281528,23373648,19391177,40554308,39225423,32040773",1,Silver-Russell syndrome,0.7290427440273365
P78527,PRKDC,DNA-dependent protein kinase catalytic subunit,Tier 1,0.718,1,B_cargo,48,,1,0,,,1,3,"36494579,21555850,9477961",1,severe combined immunodeficiency due to DNA-PKcs deficiency,0.7274518381609374
P04040,CAT,Catalase,Tier 1,0.716,1,B_cargo,17,95.81,1,0,,,1,123,"41862624,41406692,40921876,40449637,40373412,40245514,40135680,39736206,39617230,39494521,39216635,38968658,38830056,38257841,38006953,37944280,37921634,37572292,37457170,37263189,36988581,36963555,36852949,36290911,36202193,36083615,35133042,35037525,35029036,34740116,34597992,33716125,32676707,31750459,31635027,31129134,31125817,31089784,30908871,30172319,29863725,29373502,28499498,27766362,27669644,26920780,26707270,26615953,26552825,26515644,41981590,40916920,40876379,40823979,40136939,39871473,39116770,38951214,38692792,38678841,38479142,38466144,38269029,37277963,37058901,37057846,37003060,36716668,36109814,35338966,34976356,34490870,34403860,33725073,33671292,33369762,32937727,32161750,30900705,30303384,29969227,29562606,28689078,24913871,24813911,24275801,23669044,22965726,22411871",1,acatalasia,0.7191143125221583
Q9NPE3,NOP10,H/ACA ribonucleoprotein complex subunit 3,Tier 1,0.716,1,B_cargo,7,94.5,1,0,,,1,1,21893585,1,"dyskeratosis congenita, autosomal recessive 1",0.7184232895097743
P11802,CDK4,Cyclin-dependent kinase 4,Tier 1,0.714,1,B_cargo,15,86.81,1,1,2W96,3G33,1,2,"41535871,21059336",1,"melanoma, cutaneous malignant, susceptibility to, 3",0.7141203476842687
Q96SW2,CRBN,Protein cereblon,Tier 1,0.712,1,B_cargo,90,86.62,1,0,,,1,1,38131089,1,multiple myeloma,0.7061408884959351
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