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
P62873,GNB1,Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1,Tier 1,0.794,1,A2_pm_peripheral,100,97.06,1,0,,,0,0,,1,"intellectual disability, autosomal dominant 42",0.8462216225099116
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
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
O75369,FLNB,Filamin-B,Tier 1,0.788,1,A2_pm_peripheral,23,76.25,0,0,,,0,0,,1,Larsen syndrome,0.826975893141549
P06737,PYGL,"Glycogen phosphorylase, liver form",Tier 1,0.787,1,A2_pm_peripheral,19,92.69,1,0,,,0,0,,1,glycogen storage disease VI,0.8220063508118274
P49770,EIF2B2,Translation initiation factor eIF2B subunit beta,Tier 1,0.787,1,A2_pm_peripheral,25,86.56,1,0,,,0,0,,1,CACH syndrome,0.824634396744653
P21333,FLNA,Filamin-A,Tier 1,0.786,1,A2_pm_peripheral,26,76.56,1,0,,,0,0,,1,Melnick-Needles syndrome,0.8200516896124751
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
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
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
Q01831,XPC,DNA repair protein complementing XP-C cells,Tier 1,0.782,1,A2_pm_peripheral,14,66.56,1,0,,,0,0,,1,Xeroderma pigmentosum complementation group C,0.8056391472748724
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
P01137,TGFB1,Transforming growth factor beta-1 proprotein,Tier 1,0.78,1,A2_pm_peripheral,20,79.56,1,0,,,1,4,"38132522,32370304,16775010,11856769",1,Camurati-Engelmann disease,0.7995305374459716
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
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
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
Q92743,HTRA1,Serine protease HTRA1,Tier 1,0.768,1,A2_pm_peripheral,18,83.25,1,0,,,1,1,31988066,1,"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2",0.7611877816680132
Q9BYI3,HYCC1,Hyccin,Tier 1,0.766,1,A2_pm_peripheral,5,67.75,1,0,,,0,0,,1,Hypomyelination - congenital cataract,0.7528702184568328
P35221,CTNNA1,Catenin alpha-1,Tier 1,0.765,1,A2_pm_peripheral,10,82.94,1,0,,,1,2,40265971,1,Butterfly-shaped pigment dystrophy,0.7487735496199569
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
P13797,PLS3,Plastin-3,Tier 1,0.757,1,A2_pm_peripheral,6,88.75,1,0,,,0,0,,1,X-linked osteoporosis with fractures,0.721756781312783
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
P84077,ARF1,ADP-ribosylation factor 1,Tier 1,0.755,1,A2_pm_peripheral,36,85.94,1,0,,,1,3,"30965174,11320245",1,periventricular nodular heterotopia 8,0.7173626622431929
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
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
P07357,C8A,Complement component C8 alpha chain,Tier 1,0.75,1,A2_pm_peripheral,11,78.69,1,0,,,0,0,,1,Immunodeficiency due to a late component of complements deficiency,0.700643416115894
Q13546,RIPK1,Receptor-interacting serine/threonine-protein kinase 1,Tier 1,0.749,1,A2_pm_peripheral,39,69.75,1,0,,,1,2,"41290466,35919280",1,immunodeficiency 57,0.698121745966467
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
P50148,GNAQ,Guanine nucleotide-binding protein G(q) subunit alpha,Tier 1,0.748,1,A2_pm_peripheral,30,93.0,1,0,,,1,1,40015005,1,Sturge-Weber syndrome,0.6941111530708174
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
O95786,RIGI,Antiviral innate immune response receptor RIG-I,Tier 1,0.735,1,A2_pm_peripheral,44,85.19,1,0,,,1,6,"34487794,33253193,32946572,31600868,26018150,22127865",1,Singleton-Merten dysplasia,0.6485708110478319
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
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
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
P12931,SRC,Proto-oncogene tyrosine-protein kinase Src,Tier 1,0.73,1,A2_pm_peripheral,78,83.44,0,1,1Y57,2SRC,1,19,"40569566,39664567,38471488,35928129,35859339,34757788,34083659,33530373,32668060,30970280,28701145,26458993,25645980,23842900,22693611,22323540,18985031,18682833,12842895",1,cancer,0.6343904000453656