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
P02462,COL4A1,Collagen alpha-1(IV) chain,Tier 1.5,0.854,1,A_assoc,4,48.47,0,0,,,0,0,,1,brain small vessel disease 1 with or without ocular anomalies,0.84655287380359
P04180,LCAT,Phosphatidylcholine-sterol acyltransferase,Tier 1.5,0.848,1,A_assoc,7,86.75,1,0,,,0,0,,1,Fish-eye disease,0.8273460309828392
Q15582,TGFBI,Transforming growth factor-beta-induced protein ig-h3,Tier 1.5,0.847,1,A_assoc,10,90.25,1,0,,,0,0,,1,lattice corneal dystrophy type I,0.8242841141270143
P07942,LAMB1,Laminin subunit beta-1,Tier 1.5,0.84,1,A_assoc,3,76.69,1,0,,,0,0,,1,cobblestone lissencephaly without muscular or ocular involvement,0.8016665947624902
P22105,TNXB,Tenascin-X,Tier 1.5,0.837,1,A_assoc,3,87.81,0,0,,,0,0,,1,Ehlers-Danlos syndrome due to tenascin-X deficiency,0.7916412481554758
P35858,IGFALS,Insulin-like growth factor-binding protein complex acid labile subunit,Tier 1.5,0.833,1,A_assoc,1,90.56,1,0,,,0,0,,1,Reduced insulin like growth factor binding protein acid labile subunit concentration,0.7760522769257892
O15230,LAMA5,Laminin subunit alpha-5,Tier 1.5,0.828,1,A_assoc,2,79.12,1,0,,,0,0,,1,"nephrotic syndrome, IIa 26",0.7594872666460903
P08572,COL4A2,Collagen alpha-2(IV) chain,Tier 1.5,0.819,1,A_assoc,4,47.25,0,0,,,0,0,,1,porencephaly 2,0.7294975109351518
O60568,PLOD3,Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3,Tier 1.5,0.815,1,A_assoc,18,91.38,1,0,,,0,0,,1,"bone fragility with contractures, arterial rupture, and deafness",0.7159150369336311
Q9Y6C2,EMILIN1,EMILIN-1,Tier 1.5,0.786,1,A_assoc,2,62.91,0,0,,,0,0,,1,arterial tortuosity-bone fragility syndrome,0.6185329512431467
P49767,VEGFC,Vascular endothelial growth factor C,Tier 1.5,0.785,1,A_assoc,4,73.19,0,0,,,0,0,,1,Milroy disease,0.6170524106764851
O00622,CCN1,CCN family member 1,Tier 1.5,0.765,1,A_assoc,2,73.12,0,0,,,0,0,,1,Abnormality of the skeletal system,0.5505331194769112
Q68CZ2,TNS3,Tensin-3,Tier 1.5,0.762,1,A_assoc,1,56.81,0,0,,,0,0,,1,neurodegenerative disease,0.539772721274482
Q9Y3B8,REXO2,"Oligoribonuclease, mitochondrial",Tier 1.5,0.754,1,A_assoc,10,88.19,0,0,,,0,0,,1,neurodegenerative disease,0.5134178677464454
P36980,CFHR2,Complement factor H-related protein 2,Tier 1.5,0.753,1,A_assoc,4,90.62,0,0,,,0,0,,1,age-related macular degeneration,0.5100732932209376
Q13177,PAK2,Serine/threonine-protein kinase PAK 2,Tier 1.5,0.736,1,A_assoc,5,74.62,0,0,,,0,0,,1,Knobloch syndrome,0.45371318009439854
Q13625,TP53BP2,Apoptosis-stimulating of p53 protein 2,Tier 1.5,0.735,1,A_assoc,6,58.97,0,0,,,0,0,,1,neurodegenerative disease,0.4484066399496438
Q9UKU9,ANGPTL2,Angiopoietin-related protein 2,Tier 1.5,0.727,1,A_assoc,1,78.19,0,0,,,0,0,,1,Abnormality of the skeletal system,0.4235882639081519
Q96SL4,GPX7,Glutathione peroxidase 7,Tier 1.5,0.721,1,A_assoc,1,92.69,0,0,,,0,0,,1,Abnormality of the skeletal system,0.40349356855524837
Q16627,CCL14,C-C motif chemokine 14,Tier 1.5,0.711,1,A_assoc,2,85.38,0,0,,,0,0,,1,neurodegenerative disease,0.37013422446672883
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
Q8WUP2,FBLIM1,Filamin-binding LIM protein 1,Tier 1.5,0.687,1,A_assoc,3,66.44,0,0,,,0,0,,1,COVID-19,0.28975781420803737
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
P19876,CXCL3,C-X-C motif chemokine 3,Tier 1.5,0.679,1,A_assoc,2,81.88,1,0,,,0,0,,1,neurodegenerative disease,0.26311734927710556
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
P19875,CXCL2,C-X-C motif chemokine 2,Tier 1.5,0.674,1,A_assoc,4,81.62,1,0,,,0,0,,1,neurodegenerative disease,0.24624512698601778
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
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
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
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
Q9NWU2,GID8,Glucose-induced degradation protein 8 homolog,Tier 1.5,0.631,1,A_assoc,1,91.94,1,0,,,0,0,,1,Abnormality of the skeletal system,0.10187555420552867
Q15818,NPTX1,Neuronal pentraxin-1,Tier 1.5,0.628,1,A_assoc,1,75.75,0,0,,,0,0,,0,spinocerebellar ataxia 50,0.5937598292127286
P07098,LIPF,Gastric triacylglycerol lipase,Tier 1.5,0.626,1,A_assoc,1,89.75,0,0,,,0,0,,0,obesity,0.5864662753480862
Q6IBW4,NCAPH2,Condensin-2 complex subunit H2,Tier 1.5,0.62,1,A_assoc,1,62.41,1,0,,,0,0,,0,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",0.5674645203025676
O00175,CCL24,C-C motif chemokine 24,Tier 1.5,0.613,1,A_assoc,2,82.12,0,0,,,0,0,,0,Iron deficiency anemia,0.5428194908352497
P35556,FBN2,Fibrillin-2,Tier 1.5,0.612,0,A_assoc,0,68.38,0,0,,,0,0,,1,congenital contractural arachnodactyly,0.8556257369085999
P55268,LAMB2,Laminin subunit beta-2,Tier 1.5,0.598,0,A_assoc,0,75.62,0,0,,,0,0,,1,LAMB2-related infantile-onset nephrotic syndrome,0.8098669226688374
Q13751,LAMB3,Laminin subunit beta-3,Tier 1.5,0.596,0,A_assoc,0,78.25,0,0,,,0,0,,1,"junctional epidermolysis bullosa, non-Herlitz type",0.8026933429516515
Q9UKX2,MYH2,Myosin-2,Tier 1.5,0.593,0,A_assoc,0,73.31,0,0,,,0,0,,1,"myopathy, proximal, and ophthalmoplegia",0.7931369221020983
Q9ULL8,SHROOM4,Protein Shroom4,Tier 1.5,0.593,1,A_assoc,1,47.09,0,0,,,0,0,,0,"X-linked intellectual disability, Stocco dos Santos type",0.4759334640315342
Q6KF10,GDF6,Growth/differentiation factor 6,Tier 1.5,0.588,0,A_assoc,0,70.06,0,0,,,0,0,,1,"Klippel-Feil syndrome 1, autosomal dominant",0.7775817215750842
P28039,AOAH,Acyloxyacyl hydrolase,Tier 1.5,0.585,1,A_assoc,2,90.38,0,0,,,0,0,,0,type 2 diabetes mellitus,0.4486206035972812
P11684,SCGB1A1,Uteroglobin,Tier 1.5,0.581,1,A_assoc,2,88.56,0,0,,,0,0,,0,chronic obstructive pulmonary disease,0.43588476688573263
P05997,COL5A2,Collagen alpha-2(V) chain,Tier 1.5,0.579,0,A_assoc,0,52.0,0,0,,,0,0,,1,"Ehlers-Danlos syndrome, classic type, 2",0.7460629361318855
Q63HQ2,EGFLAM,Pikachurin,Tier 1.5,0.574,1,A_assoc,3,80.56,1,0,,,0,0,,0,mathematical ability,0.41387833248094535
Q13007,IL24,Interleukin-24,Tier 1.5,0.572,1,A_assoc,2,83.38,0,0,,,0,0,,0,clear cell renal carcinoma,0.4074364261926763
Q96A83,COL26A1,Collagen alpha-1(XXVI) chain,Tier 1.5,0.568,1,A_assoc,6,59.66,0,0,,,0,0,,0,Inguinal hernia,0.39338285604421097