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
P35555,FBN1,Fibrillin-1,Tier 1,0.809,1,A2_pm_peripheral,11,,0,0,,,0,0,,1,Marfan syndrome,0.8969300970597663
P15056,BRAF,Serine/threonine-protein kinase B-raf,Tier 1,0.803,1,A2_pm_peripheral,100,66.38,0,0,,,1,6,"39624124,34874026,33497198,31726389,24486214,11856330",1,cardiofaciocutaneous syndrome,0.8764542776642054
P04049,RAF1,RAF proto-oncogene serine/threonine-protein kinase,Tier 1,0.799,1,A2_pm_peripheral,75,67.5,0,0,,,1,4,"15112994,12173045,11856330,9883908",1,Noonan syndrome,0.8625147809861142
P51531,SMARCA2,SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2,Tier 1,0.797,1,A2_pm_peripheral,31,65.06,0,0,,,0,0,,1,intellectual disability-sparse hair-brachydactyly syndrome,0.85547142397368
P29400,COL4A5,Collagen alpha-5(IV) chain,Tier 1.5,0.794,1,A2_pm_peripheral,2,48.12,0,0,,,0,0,,1,X-linked Alport syndrome,0.8472963899466404
P52333,JAK3,Tyrosine-protein kinase JAK3,Tier 1,0.794,1,A2_pm_peripheral,42,85.69,0,0,,,0,0,,1,T-B+ severe combined immunodeficiency due to JAK3 deficiency,0.8450717197794638
Q06187,BTK,Tyrosine-protein kinase BTK,Tier 1,0.794,1,A2_pm_peripheral,100,84.44,0,0,,,1,1,41951939,1,X-linked agammaglobulinemia,0.8454716106068291
Q14315,FLNC,Filamin-C,Tier 1.5,0.791,1,A2_pm_peripheral,14,75.06,0,0,,,0,0,,1,hypertrophic cardiomyopathy 26,0.8363192336142512
O60315,ZEB2,Zinc finger E-box-binding homeobox 2,Tier 1.5,0.789,1,A2_pm_peripheral,1,48.16,0,0,,,1,3,"27719642,24146916,18698484",1,Mowat-Wilson syndrome,0.8313744323041312
O75369,FLNB,Filamin-B,Tier 1,0.788,1,A2_pm_peripheral,23,76.25,0,0,,,0,0,,1,Larsen syndrome,0.826975893141549
Q02750,MAP2K1,Dual specificity mitogen-activated protein kinase kinase 1,Tier 1,0.788,1,A2_pm_peripheral,94,83.25,0,0,,,1,1,29580944,1,cardiofaciocutaneous syndrome,0.825549979325162
P11274,BCR,Breakpoint cluster region protein,Tier 1.5,0.785,1,A2_pm_peripheral,5,64.81,0,0,,,1,20,"41951939,41535871,40882628,37937247,37103734,32929022,32507237,31825964,31650445,31295447,29299123,28686804,25809097,23836560,22411871,21810089,21653319,21030439,16990253,11713794",1,chronic myelogenous leukemia,0.8183048540102864
O43175,PHGDH,D-3-phosphoglycerate dehydrogenase,Tier 1,0.784,1,A2_pm_peripheral,21,92.94,0,0,,,0,0,,1,PHGDH deficiency,0.8128323162948055
P01111,NRAS,GTPase NRas,Tier 1,0.783,1,A2_pm_peripheral,35,92.06,0,0,,,1,2,"39952900,39371477",1,Noonan syndrome 6,0.8087775198380727
Q9Y3Z3,SAMHD1,Deoxynucleoside triphosphate triphosphohydrolase SAMHD1,Tier 1,0.783,1,A2_pm_peripheral,76,88.19,0,0,,,0,0,,1,Aicardi-Goutières syndrome,0.8101030032946703
O95630,STAMBP,STAM-binding protein,Tier 1.5,0.782,1,A2_pm_peripheral,5,84.0,0,0,,,0,0,,1,microcephaly-capillary malformation syndrome,0.8060251236043802
Q08499,PDE4D,"3',5'-cyclic-AMP phosphodiesterase 4D",Tier 1,0.782,1,A2_pm_peripheral,100,67.44,0,0,,,0,0,,1,acrodysostosis 2 with or without hormone resistance,0.8053064772512085
Q8TD16,BICD2,Protein bicaudal D homolog 2,Tier 1,0.782,1,A2_pm_peripheral,2,78.0,0,0,,,0,0,,1,autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures,0.8072433385790271
Q96BN8,OTULIN,Ubiquitin thioesterase otulin,Tier 1,0.781,1,A2_pm_peripheral,12,83.81,0,0,,,0,0,,1,"autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive",0.804614072482804
O60674,JAK2,Tyrosine-protein kinase JAK2,Tier 1,0.78,1,A2_pm_peripheral,100,86.88,0,0,,,1,8,"41455398,34121564,32985358,31279934,30415442,25809097,22411871,20711698",1,polycythemia vera,0.8000866241942614
P98170,XIAP,E3 ubiquitin-protein ligase XIAP,Tier 1,0.78,1,A2_pm_peripheral,74,74.25,0,0,,,1,4,"35383192,29864441,27514505,26318819",1,X-linked lymphoproliferative disease,0.8013347966323413
Q9UHD9,UBQLN2,Ubiquilin-2,Tier 1,0.778,1,A2_pm_peripheral,4,61.03,0,0,,,1,2,23541532,1,amyotrophic lateral sclerosis type 15,0.7942015735994536
P12814,ACTN1,Alpha-actinin-1,Tier 1.5,0.777,1,A2_pm_peripheral,4,85.25,0,0,,,0,0,,1,platelet-type bleeding disorder 15,0.7887662502912471
P49773,HINT1,Adenosine 5'-monophosphoramidase HINT1,Tier 1,0.777,1,A2_pm_peripheral,59,96.19,0,0,,,0,0,,1,Autosomal recessive axonal neuropathy with neuromyotonia,0.7895184274923306
O15294,OGT,UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit,Tier 1,0.77,1,A2_pm_peripheral,44,93.06,0,0,,,1,2,"36868188,36626902",1,"intellectual disability, X-linked 106",0.7660009745204424
Q9Y263,PLAA,Phospholipase A-2-activating protein,Tier 1,0.77,1,A2_pm_peripheral,5,84.0,0,0,,,0,0,,1,"neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies",0.7656265019633831
P55263,ADK,Adenosine kinase,Tier 1.5,0.769,1,A2_pm_peripheral,4,93.31,0,0,,,1,2,26051465,1,adenosine kinase deficiency,0.7617058236708037
Q9NWZ3,IRAK4,Interleukin-1 receptor-associated kinase 4,Tier 1,0.768,1,A2_pm_peripheral,96,83.94,0,0,,,0,0,,1,immunodeficiency 67,0.7593923638641371
Q9NZ09,UBAP1,Ubiquitin-associated protein 1,Tier 1.5,0.764,1,A2_pm_peripheral,3,62.5,0,0,,,0,0,,1,"spastic paraplegia 80, autosomal dominant",0.7464670113492812
Q01484,ANK2,Ankyrin-2,Tier 1,0.762,1,A2_pm_peripheral,11,61.78,0,0,,,0,0,,1,Romano-Ward syndrome,0.7390647393986454
Q6NZI2,CAVIN1,Caveolae-associated protein 1,Tier 1.5,0.76,1,A2_pm_peripheral,3,67.38,0,0,,,0,0,,1,congenital generalized lipodystrophy type 4,0.7317728549444928
Q92997,DVL3,Segment polarity protein dishevelled homolog DVL-3,Tier 1.5,0.759,1,A2_pm_peripheral,9,58.91,0,0,,,0,0,,1,autosomal dominant Robinow syndrome,0.7284158836126389
P26038,MSN,Moesin,Tier 1,0.755,1,A2_pm_peripheral,10,86.38,0,0,,,1,65,"41813080,41784619,41611946,40904334,40886652,40258621,40222299,39454415,39053429,38856817,38759442,38687941,38561432,38446130,38349197,38295649,38266273,37869770,37806507,37423650,37353120,37062561,37058944,36982925,36843953,36700559,36562728,36179642,35026109,34893239,34538325,33960345,33727809,33528465,33149582,32882423,32291531,32170403,31872318,31792209,31213813,31072481,30985076,30865739,32254866,29955964,29568450,29136862,28917759,28832225",1,combined immunodeficiency due to moesin deficiency,0.7157135146765757
P07948,LYN,Tyrosine-protein kinase Lyn,Tier 1,0.754,1,A2_pm_peripheral,6,83.12,0,0,,,0,0,,1,"autoinflammatory disease, systemic, with vasculitis",0.7119500711989845
P22735,TGM1,Protein-glutamine gamma-glutamyltransferase K,Tier 1.5,0.754,1,A2_pm_peripheral,1,84.12,0,0,,,0,0,,1,autosomal recessive congenital ichthyosis,0.714755023666953
P31939,ATIC,Bifunctional purine biosynthesis protein ATIC,Tier 1.5,0.754,1,A2_pm_peripheral,5,97.38,0,0,,,0,0,,1,AICA-ribosiduria,0.7137167364484167
Q13153,PAK1,Serine/threonine-protein kinase PAK 1,Tier 1,0.753,1,A2_pm_peripheral,41,73.69,0,0,,,1,2,"32636813,20564698",1,"intellectual developmental disorder with macrocephaly, seizures, and speech delay",0.7110292416229067
O15117,FYB1,FYN-binding protein 1,Tier 1,0.752,1,A2_pm_peripheral,3,56.59,0,0,,,0,0,,1,thrombocytopenia 3,0.7067701415491194
P35241,RDX,Radixin,Tier 1.5,0.749,1,A2_pm_peripheral,2,86.56,0,0,,,1,2,"33253235,30700648",1,"hearing loss, autosomal recessive",0.6973070672344621
Q9Y5K6,CD2AP,CD2-associated protein,Tier 1,0.749,1,A2_pm_peripheral,12,62.22,0,0,,,0,0,,1,focal segmental glomerulosclerosis,0.6952333377860125
Q8IXK2,GALNT12,Polypeptide N-acetylgalactosaminyltransferase 12,Tier 1.5,0.748,1,A2_pm_peripheral,1,93.5,0,0,,,0,0,,1,"colorectal cancer, susceptibility to, 1",0.6932727729787528
Q8IZQ1,WDFY3,WD repeat and FYVE domain-containing protein 3,Tier 1,0.748,1,A2_pm_peripheral,2,,0,0,,,0,0,,1,Autosomal dominant microcephaly,0.6934322596452817
P61586,RHOA,Transforming protein RhoA,Tier 1,0.744,1,A2_pm_peripheral,100,93.56,0,0,,,1,4,"25645980,19389625,12927206,12123800",1,"ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies",0.6804889074382072
Q00535,CDK5,Cyclin-dependent kinase 5,Tier 1,0.744,1,A2_pm_peripheral,10,91.56,0,0,,,1,4,"33291667,33200349",1,Alzheimer disease,0.6800338890220147
Q96CW1,AP2M1,AP-2 complex subunit mu,Tier 1,0.741,1,A2_pm_peripheral,4,89.19,0,0,,,0,0,,1,intellectual developmental disorder 60 with seizures,0.6712897942723018
O43516,WIPF1,WAS/WASL-interacting protein family member 1,Tier 1.5,0.737,1,A2_pm_peripheral,4,58.5,0,0,,,0,0,,1,Wiskott-Aldrich syndrome,0.6561328889736038
P26196,DDX6,Probable ATP-dependent RNA helicase DDX6,Tier 1,0.734,1,A2_pm_peripheral,9,84.06,0,0,,,1,2,34132569,1,intellectual developmental disorder with impaired language and dysmorphic facies,0.6482686715821397
P27815,PDE4A,"3',5'-cyclic-AMP phosphodiesterase 4A",Tier 1,0.732,1,A2_pm_peripheral,5,64.5,0,0,,,0,0,,1,psoriasis,0.6394621747004946
P48730,CSNK1D,Casein kinase I isoform delta,Tier 1,0.732,1,A2_pm_peripheral,46,81.0,0,0,,,0,0,,1,Familial advanced sleep-phase syndrome,0.6394614732145313
Q12929,EPS8,Epidermal growth factor receptor kinase substrate 8,Tier 1.5,0.731,1,A2_pm_peripheral,2,70.31,0,0,,,0,0,,1,autosomal recessive nonsyndromic hearing loss 102,0.6354471967036509