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
P15848,ARSB,Arylsulfatase B,Tier 1.5,0.761,1,B_cargo,1,93.12,0,0,,,0,0,,1,mucopolysaccharidosis type 6,0.8708405439406184
P54802,NAGLU,Alpha-N-acetylglucosaminidase,Tier 1.5,0.761,1,B_cargo,1,96.75,0,0,,,0,0,,1,mucopolysaccharidosis type 3B,0.8688752515463204
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
P49748,ACADVL,"Very long-chain acyl-CoA dehydrogenase, mitochondrial",Tier 1.5,0.76,1,B_cargo,3,90.25,0,0,,,0,0,,1,very long chain acyl-CoA dehydrogenase deficiency,0.8655785842544526
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
Q01968,OCRL,Inositol polyphosphate 5-phosphatase OCRL,Tier 1.5,0.759,1,B_cargo,5,82.56,0,0,,,0,0,,1,oculocerebrorenal syndrome,0.8639646099557533
P30566,ADSL,Adenylosuccinate lyase,Tier 1.5,0.756,1,B_cargo,4,96.56,0,0,,,0,0,,1,adenylosuccinate lyase deficiency,0.8537075354730899
P35914,HMGCL,"Hydroxymethylglutaryl-CoA lyase, mitochondrial",Tier 1.5,0.755,1,B_cargo,4,92.0,0,0,,,0,0,,1,3-hydroxy-3-methylglutaric aciduria,0.84972741897364
P51648,ALDH3A2,Aldehyde dehydrogenase family 3 member A2,Tier 1.5,0.755,1,B_cargo,1,96.62,0,0,,,0,0,,1,Sjögren-Larsson syndrome,0.8498976178886021
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
P50336,PPOX,Protoporphyrinogen oxidase,Tier 1.5,0.755,1,B_cargo,3,95.31,0,0,,,0,0,,1,variegate porphyria,0.8511493920751063
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
P36871,PGM1,Phosphoglucomutase-1,Tier 1.5,0.753,1,B_cargo,16,97.12,0,0,,,0,0,,1,PGM1-congenital disorder of glycosylation,0.843931261346685
O95571,ETHE1,"Persulfide dioxygenase ETHE1, mitochondrial",Tier 1.5,0.752,1,B_cargo,1,92.88,0,0,,,0,0,,1,ethylmalonic encephalopathy,0.8389957647020829
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
P54886,ALDH18A1,Delta-1-pyrroline-5-carboxylate synthase,Tier 1.5,0.75,1,B_cargo,1,84.19,0,0,,,0,0,,1,ALDH18A1-related de Barsy syndrome,0.8337004817329543
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
Q9H0F7,ARL6,ADP-ribosylation factor-like protein 6,Tier 1.5,0.749,1,B_cargo,1,94.69,0,0,,,0,0,,1,Bardet-Biedl syndrome,0.831055560105815
P02538,KRT6A,"Keratin, type II cytoskeletal 6A",Tier 1.5,0.748,1,B_cargo,1,66.31,0,0,,,0,0,,1,pachyonychia congenita,0.8265917804295808
P55809,OXCT1,"Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial",Tier 1.5,0.748,1,B_cargo,1,91.94,0,0,,,0,0,,1,succinyl-CoA:3-ketoacid CoA transferase deficiency,0.8271377770408165
Q8IWV7,UBR1,E3 ubiquitin-protein ligase UBR1,Tier 1.5,0.748,1,B_cargo,5,84.69,0,0,,,0,0,,1,Johanson-Blizzard syndrome,0.8277473176517505
P12955,PEPD,Xaa-Pro dipeptidase,Tier 1.5,0.747,1,B_cargo,21,97.44,0,0,,,0,0,,1,prolidase deficiency,0.8227965856258603
Q15833,STXBP2,Syntaxin-binding protein 2,Tier 1.5,0.747,1,B_cargo,1,90.0,0,0,,,0,0,,1,Familial hemophagocytic lymphohistiocytosis,0.8239664182555839
Q14739,LBR,Delta(14)-sterol reductase LBR,Tier 1.5,0.746,1,B_cargo,1,76.62,0,0,,,0,0,,1,Greenberg dysplasia,0.8198252534620432
P08237,PFKM,"ATP-dependent 6-phosphofructokinase, muscle type",Tier 1.5,0.746,1,B_cargo,1,91.69,0,0,,,0,0,,1,glycogen storage disease VII,0.8199812991737021
P38571,LIPA,Lysosomal acid lipase/cholesteryl ester hydrolase,Tier 1.5,0.745,1,B_cargo,1,91.56,0,0,,,0,0,,1,cholesteryl ester storage disease,0.8176913717992665
Q14938,NFIX,Nuclear factor 1 X-type,Tier 1.5,0.745,1,B_cargo,3,61.62,0,0,,,0,0,,1,Malan overgrowth syndrome,0.8156080181042044
P02549,SPTA1,"Spectrin alpha chain, erythrocytic 1",Tier 1.5,0.745,1,B_cargo,3,76.38,0,0,,,0,0,,1,elliptocytosis 2,0.8153311905916062
P04080,CSTB,Cystatin-B,Tier 1.5,0.744,1,B_cargo,3,95.56,0,0,,,0,0,,1,Unverricht-Lundborg disease,0.8143874694671263
Q15738,NSDHL,"Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating",Tier 1.5,0.744,1,B_cargo,2,88.62,0,0,,,0,0,,1,CHILD syndrome,0.81209434191833
O95822,MLYCD,"Malonyl-CoA decarboxylase, mitochondrial",Tier 1.5,0.744,1,B_cargo,2,89.94,0,0,,,0,0,,1,malonic aciduria,0.8148554714603661
Q01433,AMPD2,AMP deaminase 2,Tier 1.5,0.744,1,B_cargo,4,80.69,0,0,,,0,0,,1,pontocerebellar hypoplasia type 9,0.8149450703818453
Q9UGM6,WARS2,"Tryptophan--tRNA ligase, mitochondrial",Tier 1.5,0.743,1,B_cargo,1,89.75,0,0,,,0,0,,1,"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",0.8094386747017313
P02533,KRT14,"Keratin, type I cytoskeletal 14",Tier 1.5,0.743,1,B_cargo,2,73.25,0,0,,,0,0,,1,"epidermolysis bullosa simplex 1A, generalized severe",0.8088593947918921
Q16836,HADH,"Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial",Tier 1.5,0.742,1,B_cargo,12,96.81,0,0,,,0,0,,1,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,0.8054501080547742
Q9UJS0,SLC25A13,"Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial",Tier 1.5,0.742,1,B_cargo,1,82.31,0,0,,,0,0,,1,neonatal intrahepatic cholestasis due to citrin deficiency,0.8051027586554986
O95202,LETM1,Mitochondrial proton/calcium exchanger protein,Tier 1.5,0.742,1,B_cargo,2,66.56,0,0,,,0,0,,1,"neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction",0.8053871863850453
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
P51610,HCFC1,Host cell factor 1,Tier 1.5,0.741,1,B_cargo,11,46.41,0,0,,,0,0,,1,"methylmalonic acidemia with homocystinuria, type cblX",0.8025576540875302
Q16854,DGUOK,"Deoxyguanosine kinase, mitochondrial",Tier 1.5,0.741,1,B_cargo,1,86.06,0,0,,,0,0,,1,mitochondrial DNA depletion syndrome 3 (hepatocerebral type),0.8027927477832228
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
Q9BT40,INPP5K,Inositol polyphosphate 5-phosphatase K,Tier 1.5,0.738,1,B_cargo,1,88.38,0,0,,,0,0,,1,"muscular dystrophy, congenital, with cataracts and intellectual disability",0.7921804970122728
O15357,INPPL1,"Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2",Tier 1.5,0.738,1,B_cargo,11,69.25,0,0,,,0,0,,1,opsismodysplasia,0.7942030158613098
P98175,RBM10,RNA-binding protein 10,Tier 1.5,0.738,1,B_cargo,6,59.97,0,0,,,0,0,,1,TARP syndrome,0.7926540744990629
Q5JTZ9,AARS2,"Alanine--tRNA ligase, mitochondrial",Tier 1.5,0.737,1,B_cargo,3,87.88,0,0,,,0,0,,1,combined oxidative phosphorylation defect type 8,0.790456486417183
P07384,CAPN1,Calpain-1 catalytic subunit,Tier 1.5,0.735,1,B_cargo,5,89.94,0,0,,,0,0,,1,Autosomal recessive spastic paraplegia type 76,0.7826099721448625
Q13586,STIM1,Stromal interaction molecule 1,Tier 1.5,0.735,1,B_cargo,6,67.81,0,0,,,0,0,,1,"myopathy, tubular aggregate, 1",0.7836768834970178
Q8TDI0,CHD5,ATP-dependent chromatin remodeler CHD5,Tier 1.5,0.735,1,B_cargo,1,62.0,0,0,,,0,0,,1,parenti-mignot neurodevelopmental syndrome,0.7837472852063317