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
P43246,MSH2,DNA mismatch repair protein Msh2,Tier 1,0.766,1,B_cargo,30,85.31,1,0,,,0,0,,1,Lynch syndrome,0.8882239051809577
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
Q96RQ3,MCCC1,"Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial",Tier 1,0.757,1,B_cargo,14,87.62,1,0,,,0,0,,1,Isolated 3-methylcrotonyl-CoA carboxylase deficiency,0.8573370131864518
Q16595,FXN,"Frataxin, mitochondrial",Tier 1,0.757,1,B_cargo,20,75.5,1,0,,,0,0,,1,Friedreich ataxia,0.8550760415889643
P11310,ACADM,"Medium-chain specific acyl-CoA dehydrogenase, mitochondrial",Tier 1,0.756,1,B_cargo,7,93.38,1,0,,,0,0,,1,medium chain acyl-CoA dehydrogenase deficiency,0.8542618568274527
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
Q12756,KIF1A,Kinesin-like protein KIF1A,Tier 1,0.754,1,B_cargo,21,70.5,1,0,,,0,0,,1,"intellectual disability, autosomal dominant 9",0.8481151412193974
Q9HCC0,MCCC2,"Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial",Tier 1,0.753,1,B_cargo,14,94.69,1,0,,,0,0,,1,3-methylcrotonyl-CoA carboxylase 2 deficiency,0.8437575319886195
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
Q13144,EIF2B5,Translation initiation factor eIF2B subunit epsilon,Tier 1,0.752,1,B_cargo,25,78.75,1,0,,,0,0,,1,CACH syndrome,0.8411470079917355
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
P46777,RPL5,Large ribosomal subunit protein uL18,Tier 1,0.751,1,B_cargo,30,94.5,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.8352702821155725
P16219,ACADS,"Short-chain specific acyl-CoA dehydrogenase, mitochondrial",Tier 1,0.751,1,B_cargo,4,93.62,1,0,,,0,0,,1,short chain acyl-CoA dehydrogenase deficiency,0.8352413435265167
P00367,GLUD1,"Glutamate dehydrogenase 1, mitochondrial",Tier 1,0.751,1,B_cargo,7,90.25,1,0,,,0,0,,1,hyperinsulinism-hyperammonemia syndrome,0.8355052949188112
P49768,PSEN1,Presenilin-1,Tier 1,0.751,1,B_cargo,27,72.12,1,0,,,0,0,,1,Alzheimer disease 3,0.8373536811398027
P63261,ACTG1,"Actin, cytoplasmic 2",Tier 1,0.75,1,B_cargo,10,95.38,1,0,,,0,0,,1,Baraitser-Winter syndrome,0.834386021888207
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
P36776,LONP1,"Lon protease homolog, mitochondrial",Tier 1,0.748,1,B_cargo,29,76.69,1,0,,,0,0,,1,CODAS syndrome,0.8273562128539942
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
Q7Z6Z7,HUWE1,E3 ubiquitin-protein ligase HUWE1,Tier 1,0.748,1,B_cargo,19,,1,0,,,0,0,,1,"intellectual disability, X-linked syndromic, Turner type",0.8251574698433977
Q71U36,TUBA1A,Tubulin alpha-1A chain,Tier 1,0.747,1,B_cargo,15,91.12,1,0,,,0,0,,1,lissencephaly due to TUBA1A mutation,0.8249848986700001
Q9UNE7,STUB1,E3 ubiquitin-protein ligase CHIP,Tier 1,0.747,1,B_cargo,21,89.31,1,0,,,0,0,,1,autosomal recessive spinocerebellar ataxia 16,0.8231010720948859
P09493,TPM1,Tropomyosin alpha-1 chain,Tier 1,0.746,1,B_cargo,14,91.62,1,0,,,0,0,,1,hypertrophic cardiomyopathy,0.8201717082603994
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
Q8IYB7,DIS3L2,DIS3-like exonuclease 2,Tier 1,0.746,1,B_cargo,4,82.69,1,0,,,0,0,,1,Perlman syndrome,0.8206937660793029
Q8TEQ6,GEMIN5,Gem-associated protein 5,Tier 1,0.746,1,B_cargo,16,78.94,1,0,,,0,0,,1,neurodevelopmental disorder with cerebellar atrophy and motor dysfunction,0.8184088962562686
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
P18077,RPL35A,Large ribosomal subunit protein eL33,Tier 1,0.744,1,B_cargo,30,95.56,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.8140112443681048
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
Q9UI10,EIF2B4,Translation initiation factor eIF2B subunit delta,Tier 1,0.744,1,B_cargo,25,76.5,1,0,,,0,0,,1,CACH syndrome,0.8146710778484454
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
O95831,AIFM1,"Apoptosis-inducing factor 1, mitochondrial",Tier 1,0.743,1,B_cargo,26,85.81,1,0,,,0,0,,1,severe X-linked mitochondrial encephalomyopathy,0.8095652882833212
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
E7ETK0,RPS24,40S ribosomal protein S24,Tier 1,0.742,1,B_cargo,2,89.44,1,0,,,0,0,,1,Blackfan-Diamond anemia,0.808182918000228
O15287,FANCG,Fanconi anemia group G protein,Tier 1,0.742,1,B_cargo,6,83.12,1,0,,,0,0,,1,Fanconi anemia complementation group G,0.8075342855580835
P09471,GNAO1,Guanine nucleotide-binding protein G(o) subunit alpha,Tier 1,0.741,1,B_cargo,83,94.5,1,0,,,0,0,,1,"developmental and epileptic encephalopathy, 17",0.8046862567587088
Q13509,TUBB3,Tubulin beta-3 chain,Tier 1,0.741,1,B_cargo,28,91.44,1,0,,,0,0,,1,"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",0.8033756889440116
Q9UL18,AGO1,Protein argonaute-1,Tier 1,0.741,1,B_cargo,8,91.0,1,0,,,0,0,,1,"neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures",0.803337762735991
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
Q9H9Q4,NHEJ1,Non-homologous end-joining factor 1,Tier 1,0.741,1,B_cargo,26,81.75,1,0,,,0,0,,1,Cernunnos-XLF deficiency,0.8044005005389401
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
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