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
P33897,ABCD1,ATP-binding cassette sub-family D member 1,Tier 1,0.96,1,A_surface,14,80.62,1,0,,,0,0,,1,adrenoleukodystrophy,0.8656366512509434
P36021,SLC16A2,Monocarboxylate transporter 8,Tier 1.5,0.956,1,A_surface,7,79.56,1,0,,,0,0,,1,Allan-Herndon-Dudley syndrome,0.8533069932022032
P51795,CLCN5,H(+)/Cl(-) exchange transporter 5,Tier 1.5,0.955,1,A_surface,2,80.62,0,0,,,0,0,,1,Dent disease type 1,0.850724240157394
P13637,ATP1A3,Sodium/potassium-transporting ATPase subunit alpha-3,Tier 1.5,0.953,1,A_surface,5,88.81,1,0,,,0,0,,1,alternating hemiplegia of childhood 2,0.842328126568451
Q14524,SCN5A,Sodium channel protein type 5 subunit alpha,Tier 1.5,0.953,1,A_surface,16,67.25,1,0,,,0,0,,1,long QT syndrome 3,0.8448298602976083
Q969N2,PIGT,GPI-anchor transamidase component PIGT,Tier 1.5,0.953,1,A_surface,3,87.25,1,0,,,0,0,,1,multiple congenital anomalies-hypotonia-seizures syndrome 3,0.8439030764005646
Q9NQ11,ATP13A2,Polyamine-transporting ATPase 13A2,Tier 1,0.953,1,A_surface,25,79.62,1,0,,,0,0,,1,Kufor-Rakeb syndrome,0.8439049037191295
P35499,SCN4A,Sodium channel protein type 4 subunit alpha,Tier 1,0.952,1,A_surface,3,72.44,1,0,,,0,0,,1,paramyotonia congenita of Von Eulenburg,0.8401628899371881
Q99250,SCN2A,Sodium channel protein type 2 subunit alpha,Tier 1.5,0.952,1,A_surface,5,68.81,1,0,,,0,0,,1,"developmental and epileptic encephalopathy, 11",0.8388748085806758
O00571,DDX3X,ATP-dependent RNA helicase DDX3X,Tier 1,0.951,1,A_surface,17,72.19,0,0,,,0,0,,1,X-linked non-syndromic intellectual disability,0.8362533125067105
P25189,MPZ,Myelin protein P0,Tier 1.5,0.951,1,A_surface,2,81.69,0,0,,,0,0,,1,Charcot-Marie-Tooth disease type 1B,0.8377022197539885
P07359,GP1BA,Platelet glycoprotein Ib alpha chain,Tier 1,0.95,1,A_surface,22,64.31,1,0,,,0,0,,1,Bernard-Soulier syndrome,0.8346884735388165
P54760,EPHB4,Ephrin type-B receptor 4,Tier 1,0.95,1,A_surface,23,82.0,0,0,,,0,0,,1,Capillary malformation - arteriovenous malformation,0.8317426466005666
Q9HAB3,SLC52A2,"Solute carrier family 52, riboflavin transporter, member 2",Tier 1.5,0.95,1,A_surface,1,84.12,1,0,,,0,0,,1,riboflavin transporter deficiency,0.8333271825486935
Q9Y653,ADGRG1,Adhesion G-protein coupled receptor G1,Tier 1.5,0.95,1,A_surface,1,77.88,1,0,,,0,0,,1,bilateral frontoparietal polymicrogyria,0.8322298896713178
Q9NRA2,SLC17A5,Sialin,Tier 1,0.949,1,A_surface,7,84.12,1,0,,,0,0,,1,"free sialic acid storage disease, infantile form",0.8292382821211967
P13473,LAMP2,Lysosome-associated membrane glycoprotein 2,Tier 1.5,0.948,1,A_surface,2,83.19,0,0,,,0,0,,1,Glycogen Storage Disease Type 2b,0.8273010649608126
P63092,GNAS,Guanine nucleotide-binding protein G(s) subunit alpha isoforms short,Tier 1,0.948,1,A_surface,100,91.31,1,0,,,0,0,,1,pseudohypoparathyroidism type 1A,0.826829760867455
Q5JWF2,GNAS,Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas,Tier 1,0.948,1,A_surface,9,56.72,1,0,,,0,0,,1,pseudohypoparathyroidism type 1A,0.826829760867455
Q8WZA1,POMGNT1,"Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",Tier 1,0.948,1,A_surface,10,89.88,0,0,,,0,0,,1,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",0.826104223872448
P14770,GP9,Platelet glycoprotein IX,Tier 1.5,0.947,1,A_surface,2,84.69,1,0,,,0,0,,1,Bernard-Soulier syndrome,0.8233582238860002
P16615,ATP2A2,Sarcoplasmic/endoplasmic reticulum calcium ATPase 2,Tier 1,0.947,1,A_surface,15,85.44,1,0,,,0,0,,1,Darier disease,0.8223208039299769
Q13936,CACNA1C,Voltage-dependent L-type calcium channel subunit alpha-1C,Tier 1,0.947,1,A_surface,33,61.94,1,0,,,0,0,,1,Timothy syndrome,0.8227725490420764
P02730,SLC4A1,Band 3 anion transport protein,Tier 1,0.946,1,A_surface,54,82.12,1,0,,,0,0,,1,hereditary spherocytosis type 4,0.820137113225454
Q9H3H5,DPAGT1,UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase,Tier 1,0.943,1,A_surface,8,94.69,1,0,,,0,0,,1,DPAGT1-congenital disorder of glycosylation,0.8101246300555436
P51798,CLCN7,H(+)/Cl(-) exchange transporter 7,Tier 1.5,0.942,1,A_surface,9,80.94,1,0,,,0,0,,1,Autosomal recessive malignant osteopetrosis,0.8065499095904218
P49810,PSEN2,Presenilin-2,Tier 1,0.941,1,A_surface,2,71.81,1,0,,,0,0,,1,early-onset autosomal dominant Alzheimer disease,0.8047686386596943
O94766,B3GAT3,Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3,Tier 1,0.94,1,A_surface,3,92.56,0,0,,,0,0,,1,"Larsen-like syndrome, B3GAT3 type",0.7995331164339264
Q9H2M9,RAB3GAP2,Rab3 GTPase-activating protein non-catalytic subunit,Tier 1,0.939,1,A_surface,1,79.62,1,0,,,0,0,,1,Cataract - intellectual disability - hypogonadism,0.7977527040203786
Q14118,DAG1,Dystroglycan 1,Tier 1,0.938,1,A_surface,8,68.19,0,0,,,0,0,,1,autosomal recessive limb-girdle muscular dystrophy type 2P,0.7935290060634741
Q9UPN3,MACF1,"Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5",Tier 1,0.938,1,A_surface,3,,0,0,,,0,0,,1,lissencephaly 9 with complex brainstem malformation,0.7945569032416216
Q9Y5Y0,FLVCR1,Choline/ethanolamine transporter FLVCR1,Tier 1,0.938,1,A_surface,8,77.56,1,0,,,0,0,,1,Posterior column ataxia - retinitis pigmentosa,0.7932113640677738
P08473,MME,Neprilysin,Tier 1,0.937,1,A_surface,16,96.19,0,0,,,0,0,,1,Charcot-Marie-Tooth disease axonal type 2T,0.7912653398252156
P35916,FLT4,Vascular endothelial growth factor receptor 3,Tier 1,0.937,1,A_surface,2,72.44,0,0,,,0,0,,1,lymphatic malformation 1,0.7904355931811005
Q96JI7,SPG11,Spatacsin,Tier 1.5,0.937,1,A_surface,3,66.75,1,0,,,0,0,,1,Autosomal recessive spastic paraplegia type 11,0.7886006646085494
Q9NW15,ANO10,Anoctamin-10,Tier 1,0.937,1,A_surface,5,86.12,1,0,,,0,0,,1,autosomal recessive spinocerebellar ataxia 10,0.7915327777093032
P05023,ATP1A1,Sodium/potassium-transporting ATPase subunit alpha-1,Tier 1.5,0.936,1,A_surface,10,88.69,1,0,,,0,0,,1,"Charcot-Marie-tooth disease, axonal, type 2DD",0.7868851290226483
Q6PJF5,RHBDF2,Inactive rhomboid protein 2,Tier 1,0.936,1,A_surface,5,67.38,1,0,,,0,0,,1,palmoplantar keratoderma-esophageal carcinoma syndrome,0.7882817956366938
Q8TD43,TRPM4,Transient receptor potential cation channel subfamily M member 4,Tier 1.5,0.936,1,A_surface,25,77.44,1,0,,,0,0,,1,Familial progressive cardiac conduction defect,0.7868180621357534
O75880,SCO1,Cytochrome c oxidase assembly factor SCO1,Tier 1,0.935,1,A_surface,10,77.75,0,0,,,0,0,,1,"mitochondrial complex IV deficiency, nuclear type 4",0.7827872588103603
Q9NP58,ABCB6,ATP-binding cassette sub-family B member 6,Tier 1,0.934,1,A_surface,16,83.06,1,0,,,0,0,,1,dyschromatosis universalis hereditaria 3,0.7783407126197405
O94856,NFASC,Neurofascin,Tier 1.5,0.933,1,A_surface,2,76.31,0,0,,,0,0,,1,neurodevelopmental disorder with central and peripheral motor dysfunction,0.7782432580663833
Q8N766,EMC1,ER membrane protein complex subunit 1,Tier 1,0.931,1,A_surface,10,87.44,1,0,,,0,0,,1,"cerebellar atrophy, visual impairment, and psychomotor retardation;",0.7687056132401411
Q15746,MYLK,"Myosin light chain kinase, smooth muscle",Tier 1.5,0.93,1,A_surface,7,65.88,0,0,,,0,0,,1,"aortic aneurysm, familial thoracic 7",0.7659842793171938
P78536,ADAM17,Disintegrin and metalloproteinase domain-containing protein 17,Tier 1,0.929,1,A_surface,33,72.69,1,0,,,0,0,,1,neonatal inflammatory skin and bowel disease,0.7624558659108367
Q02094,RHAG,Ammonium transporter Rh type A,Tier 1.5,0.929,1,A_surface,8,95.62,1,0,,,0,0,,1,Rh deficiency syndrome,0.764209214915708
P00846,MT-ATP6,ATP synthase F(0) complex subunit a,Tier 1.5,0.928,1,A_surface,10,88.94,1,0,,,0,0,,1,NARP syndrome,0.760749518172638
Q9BVK8,TMEM147,BOS complex subunit TMEM147,Tier 1,0.928,1,A_surface,3,92.5,1,0,,,0,0,,1,"neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly",0.7615388401822349
O95714,HERC2,E3 ubiquitin-protein ligase HERC2,Tier 1,0.925,1,A_surface,15,,0,0,,,0,0,,1,developmental delay with autism spectrum disorder and gait instability,0.74952129063985
P20963,CD247,T-cell surface glycoprotein CD3 zeta chain,Tier 1,0.923,1,A_surface,38,62.41,1,0,,,0,0,,1,immunodeficiency 25,0.7436838111879828