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
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
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
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
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
P31040,SDHA,"Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial",Tier 1.5,0.785,1,A2_pm_peripheral,4,93.94,1,0,,,0,0,,1,"mitochondrial complex II deficiency, nuclear type 1",0.815589203208636
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
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
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
Q12840,KIF5A,Kinesin heavy chain isoform 5A,Tier 1.5,0.781,1,A2_pm_peripheral,4,75.31,1,0,,,0,0,,1,hereditary spastic paraplegia 10,0.8029405627392309
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
O00330,PDHX,"Pyruvate dehydrogenase protein X component, mitochondrial",Tier 1.5,0.779,1,A2_pm_peripheral,5,77.31,1,0,,,0,0,,1,pyruvate dehydrogenase E3-binding protein deficiency,0.7957753555992844
Q9NQG7,HPS4,BLOC-3 complex member HPS4,Tier 1.5,0.779,1,A2_pm_peripheral,1,61.66,1,0,,,0,0,,1,Hermansky-Pudlak syndrome with pulmonary fibrosis,0.7967575753847002
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
O00468,AGRN,Agrin,Tier 1.5,0.777,1,A2_pm_peripheral,1,68.81,1,0,,,0,0,,1,congenital myasthenic syndrome 8,0.7912009864338403
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
Q9ULC3,RAB23,Ras-related protein Rab-23,Tier 1.5,0.776,1,A2_pm_peripheral,6,79.56,1,0,,,1,1,23618401,1,RAB23-related Carpenter syndrome,0.7879955689930709
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
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
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
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
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
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