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
Q00604,NDP,Norrin,Tier 1.5,0.707,1,A_assoc,11,83.56,1,0,,,1,2,"39057719,11352723",0,Norrie disease,0.8566451682188412
P15884,TCF4,Transcription factor 4,Tier 1,0.705,1,A_assoc,5,51.12,0,0,,,1,4,"36252203,17909039,41851110,37805109",0,Pitt-Hopkins syndrome,0.8490531860867685
Q9NZK5,ADA2,Adenosine deaminase 2,Tier 1,0.699,1,A_assoc,2,95.81,0,0,,,0,0,,0,deficiency of adenosine deaminase 2,0.8291292532404531
Q99972,MYOC,Myocilin,Tier 1,0.699,1,A_assoc,24,78.94,0,0,,,0,0,,0,"glaucoma 1, open angle, A",0.8294483747483756
O95970,LGI1,Leucine-rich glioma-inactivated protein 1,Tier 1.5,0.697,1,A_assoc,9,92.56,1,0,,,0,0,,0,autosomal dominant epilepsy with auditory features,0.8225657483127345
Q9UBH0,IL36RN,Interleukin-36 receptor antagonist protein,Tier 1,0.695,1,A_assoc,3,92.44,0,0,,,0,0,,0,"psoriasis 14, pustular",0.8155144873787125
P20062,TCN2,Transcobalamin-2,Tier 1,0.694,1,A_assoc,11,91.5,0,0,,,1,3,"41935727,39493449",0,transcobalamin II deficiency,0.8116989428679681
Q96MK3,FAM20A,Pseudokinase FAM20A,Tier 1,0.693,1,A_assoc,4,85.25,0,0,,,0,0,,0,amelogenesis imperfecta type 1G,0.8106031517056754
P55000,SLURP1,Secreted Ly-6/uPAR-related protein 1,Tier 1,0.692,1,A_assoc,2,84.19,0,0,,,0,0,,0,mal de Meleda,0.8064330379723671
P45452,MMP13,Collagenase 3,Tier 1,0.691,1,A_assoc,49,88.62,0,0,,,1,4,"41754778,40893365,38471488,38750696",0,"spondyloepimetaphyseal dysplasia, Missouri type",0.8032079813035149
P29460,IL12B,Interleukin-12 subunit beta,Tier 1,0.687,1,A_assoc,20,91.12,1,0,,,0,0,,0,psoriasis,0.7914863943708039
Q13253,NOG,Noggin,Tier 1.5,0.685,1,A_assoc,2,86.06,0,0,,,1,2,38397086,0,proximal symphalangism 1A,0.7844136456463046
P03971,AMH,Anti-Muellerian hormone,Tier 1.5,0.685,1,A_assoc,3,68.62,1,0,,,1,2,"41101154,27364573",0,persistent Mullerian duct syndrome,0.7847328444470535
Q96S42,NODAL,Nodal homolog,Tier 1,0.684,1,A_assoc,1,75.44,0,0,,,1,3,"38155321,24146916,23918801",0,"heterotaxy, visceral, 5, autosomal",0.7788051667024423
P01138,NGF,Beta-nerve growth factor,Tier 1.5,0.684,1,A_assoc,8,73.25,0,0,,,1,6,"42015870,38780008,32982626,21216401,7545283,29754498",0,hereditary sensory and autonomic neuropathy type 5,0.7785402119369383
P18510,IL1RN,Interleukin-1 receptor antagonist protein,Tier 1.5,0.682,1,A_assoc,5,87.06,0,0,,,1,1,38928037,0,sterile multifocal osteomyelitis with periostitis and pustulosis,0.7734282711738736
P29120,PCSK1,Neuroendocrine convertase 1,Tier 1.5,0.682,1,A_assoc,3,82.5,0,0,,,0,0,,0,obesity due to prohormone convertase I deficiency,0.773875795833803
P00797,REN,Renin,Tier 1,0.68,1,A_assoc,91,85.44,0,0,,,1,456,"42025056,42000159,41992303,41979049,41942404,41934998,41909751,41904852,41851110,41849890,41794534,41780402,41770936,41718462,41711853,41698160,41671930,41659919,41629318,41545413,41538945,41529264,41519163,41454539,41443106,41386094,41330678,41327249,41249026,41234744,41207040,41205456,41175848,41172349,41171135,41164194,41161441,41148632,41118515,41089000,41067030,41024479,41002305,40994449,40968863,40963922,40893365,40891676,40870790,40801503,41906877,40832436,39923730,39263947,39129649,38811951,36190914,35983901,35907639,35187107,34619249,34248841,32981365,32838280,32527800,31988066,26746799,21147843",0,familial juvenile hyperuricemic nephropathy type 2,0.7657976389758877
P05019,IGF1,Insulin-like growth factor 1,Tier 1,0.68,1,A_assoc,32,59.53,1,0,,,1,23,"38384162,35859339,35591468,33977395,33467925,32511241,31930684,26245346,24832383,23933187,23373648,16019422,41283885,39263947,38497478,33888746,15231297",0,growth delay due to insulin-like growth factor type 1 deficiency,0.7650418939376437
Q9GZV9,FGF23,Fibroblast growth factor 23,Tier 1,0.679,1,A_assoc,6,76.62,1,0,,,1,11,"39007037,38079395,35415885,32065590,30297602,30197987,41226313,36705086",0,autosomal dominant hypophosphatemic rickets,0.762326334964193
P20849,COL9A1,Collagen alpha-1(IX) chain,Tier 1,0.678,1,A_assoc,5,61.5,0,0,,,0,0,,0,Stickler syndrome,0.7594904923903256
P16112,ACAN,Aggrecan core protein,Tier 1.5,0.677,1,A_assoc,4,51.91,0,0,,,0,0,,0,Familial osteochondritis dissecans,0.7558487616449627
P55789,GFER,FAD-linked sulfhydryl oxidase ALR,Tier 1.5,0.677,1,A_assoc,7,76.88,0,0,,,0,0,,0,congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,0.7556346526616893
Q12794,HYAL1,Hyaluronidase-1,Tier 1.5,0.672,1,A_assoc,1,94.0,0,0,,,0,0,,0,Hyaluronidase deficiency,0.7412407206736383
Q92752,TNR,Tenascin-R,Tier 1.5,0.672,1,A_assoc,2,78.5,0,0,,,0,0,,0,"neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus",0.7403484347367364
O15520,FGF10,Fibroblast growth factor 10,Tier 1.5,0.67,1,A_assoc,2,80.0,0,0,,,1,1,35415885,0,Lacrimoauriculodentodigital syndrome,0.7344198619465704
P35225,IL13,Interleukin-13,Tier 1,0.669,1,A_assoc,13,85.62,1,0,,,1,9,"41463156,35356877,33742062,32784904,27640094,29949702,21793788",0,atopic eczema,0.7297489019498119
Q2MKA7,RSPO1,R-spondin-1,Tier 1,0.669,1,A_assoc,12,74.69,1,0,,,0,0,,0,palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,0.7285342885472184
Q9BQB4,SOST,Sclerostin,Tier 1,0.666,1,A_assoc,3,70.81,0,0,,,1,32,"42031715,41736700,41545413,41276911,41242313,40464222,40429697,34361085,33717084,33334063,21204783,42030934,41450662,41226313,39470582,39007037,38444701,38074899,37481136,35966595,35869074,35646527",0,sclerosteosis 1,0.7184345506579789
P05305,EDN1,Endothelin-1,Tier 1,0.666,1,A_assoc,17,65.19,1,0,,,1,2,"40438585,37198662",0,auriculocondylar syndrome,0.7193561828311311
P12272,PTHLH,Parathyroid hormone-related protein,Tier 1,0.666,1,A_assoc,11,62.88,1,0,,,0,0,,0,brachydactyly type E,0.7203484375635054
O00300,TNFRSF11B,Tumor necrosis factor receptor superfamily member 11B,Tier 1.5,0.666,1,A_assoc,1,86.5,0,0,,,1,1,15562003,0,juvenile Paget disease,0.7184894548525037
Q99574,SERPINI1,Neuroserpin,Tier 1,0.665,1,A_assoc,3,88.12,0,0,,,0,0,,0,familial encephalopathy with neuroserpin inclusion bodies,0.7162803151916303
P01270,PTH,Parathyroid hormone,Tier 1,0.664,1,A_assoc,26,72.12,1,0,,,1,9,"40464222,40108760,39880691,38079395,25901535,41303575,41226313",0,"hypoparathyroidism, familial isolated 1",0.7147450451832739
P11686,SFTPC,Surfactant protein C,Tier 1.5,0.663,1,A_assoc,3,70.06,0,0,,,0,0,,0,Congenital pulmonary alveolar proteinosis,0.7110128683619542
O43897,TLL1,,Tier 1.5,0.662,1,A_assoc,1,80.31,0,0,,,0,0,,0,atrial heart septal defect,0.7050140477090344
P19835,CEL,Bile salt-activated lipase,Tier 1.5,0.658,1,A_assoc,7,82.56,0,0,,,1,2,"39653009,34940276",0,MODY,0.6940743944678538
O43323,DHH,Desert hedgehog protein,Tier 1,0.657,1,A_assoc,5,84.38,0,0,,,1,1,18698484,0,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",0.6912706692651148
P27352,CBLIF,Cobalamin binding intrinsic factor,Tier 1.5,0.655,1,A_assoc,2,90.5,0,0,,,0,0,,0,hereditary intrinsic factor deficiency,0.683930100359911
Q9Y5C1,ANGPTL3,Angiopoietin-related protein 3,Tier 1.5,0.652,1,A_assoc,1,79.62,0,0,,,1,1,23770039,0,familial hypobetalipoproteinemia 2,0.6739043862507132
Q9Y5K2,KLK4,Kallikrein-4,Tier 1,0.65,1,A_assoc,18,90.12,0,0,,,1,2,"30114962,35323639",0,Hypomaturation amelogenesis imperfecta,0.6659029046455642
Q8N300,SVBP,Small vasohibin-binding protein,Tier 1,0.649,1,A_assoc,24,85.06,1,0,,,0,0,,0,"neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",0.6640118055835142
O95631,NTN1,Netrin-1,Tier 1.5,0.648,1,A_assoc,5,88.5,1,0,,,0,0,,0,mirror movements 4,0.6611393488240481
P05113,IL5,Interleukin-5,Tier 1,0.642,1,A_assoc,5,86.69,1,0,,,1,12,"40972397,35487180,35356877,34831332,32784904,32038731,29881374,28062796,26048585",0,asthma,0.6399821251487101
Q16552,IL17A,Interleukin-17A,Tier 1,0.641,1,A_assoc,44,84.31,1,0,,,1,30,"42017161,41754778,41482938,41477217,40410820,39376102,38091227,38031342,37879125,37238999,36517803,36375248,36326540,35724603,32784904,32387307,31316164,27827561,24056860,21524680,20967861,37563071,34531951",0,psoriasis,0.6367521314106471
O95390,GDF11,Growth/differentiation factor 11,Tier 1,0.636,1,A_assoc,5,73.12,0,0,,,1,7,"40664633,39909827,31638376,23663781,32408813",0,vertebral hypersegmentation and orofacial anomalies,0.6207007733160915
P05230,FGF1,Fibroblast growth factor 1,Tier 1,0.633,1,A_assoc,96,90.69,0,0,,,1,3,"35415885,33536494,27663888",0,cancer,0.6088477966360052
P22894,MMP8,Neutrophil collagenase,Tier 1,0.631,1,A_assoc,25,90.38,0,0,,,1,4,"35821507,34183667,33534888,30197987",0,acne,0.603247809982021
P09237,MMP7,Matrilysin,Tier 1,0.631,1,A_assoc,16,87.81,0,0,,,1,9,"41890985,37022120,36508319,33742062,31844116,30553167,28738067,27836219",0,acne,0.603247809982021
O76093,FGF18,Fibroblast growth factor 18,Tier 1.5,0.631,1,A_assoc,1,87.56,0,0,,,1,1,35415885,0,cancer,0.6028027301556572