Top-priority targets
| id | gene_symbol | protein_name | tier | evidence_priority | has_structure | pdb_count_total | has_activation_state_pdb_pair | has_known_aptamer | opentargets_top_disease_name |
|---|---|---|---|---|---|---|---|---|---|
| P21359 | NF1 | Neurofibromin | Tier 1.5 | 0.965 | 1 | 26 | 0 | 1 | neurofibromatosis type 1 |
| P33897 | ABCD1 | ATP-binding cassette sub-family D member 1 | Tier 1 | 0.96 | 1 | 14 | 0 | 0 | adrenoleukodystrophy |
| P04839 | CYBB | NADPH oxidase 2 | Tier 1 | 0.959 | 1 | 6 | 0 | 1 | chronic granulomatous disease |
| P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Tier 1 | 0.959 | 1 | 62 | 0 | 1 | Crouzon syndrome |
| P78504 | JAG1 | Protein jagged-1 | Tier 1 | 0.958 | 1 | 7 | 0 | 1 | Alagille syndrome due to a JAG1 point mutation |
| P00813 | ADA | Adenosine deaminase | Tier 1.5 | 0.957 | 1 | 2 | 0 | 1 | Severe combined immunodeficiency due to adenosine deaminase deficiency |
| P11166 | SLC2A1 | Solute carrier family 2, facilitated glucose transporter member 1 | Tier 1 | 0.956 | 1 | 5 | 0 | 1 | encephalopathy due to GLUT1 deficiency |
| P36021 | SLC16A2 | Monocarboxylate transporter 8 | Tier 1.5 | 0.956 | 1 | 7 | 0 | 0 | Allan-Herndon-Dudley syndrome |
| P51795 | CLCN5 | H(+)/Cl(-) exchange transporter 5 | Tier 1.5 | 0.955 | 1 | 2 | 0 | 0 | Dent disease type 1 |
| P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Tier 1 | 0.954 | 1 | 82 | 0 | 1 | hypogonadotropic hypogonadism 2 with or without anosmia |
| P29965 | CD40LG | CD40 ligand | Tier 1 | 0.954 | 1 | 8 | 0 | 1 | hyper-IgM syndrome type 1 |
| P06213 | INSR | Insulin receptor | Tier 1 | 0.953 | 1 | 87 | 0 | 1 | Leprechaunism |
| P08581 | MET | Hepatocyte growth factor receptor | Tier 1 | 0.953 | 1 | 100 | 0 | 1 | papillary renal cell carcinoma |
| P13637 | ATP1A3 | Sodium/potassium-transporting ATPase subunit alpha-3 | Tier 1.5 | 0.953 | 1 | 5 | 0 | 0 | alternating hemiplegia of childhood 2 |
| Q14524 | SCN5A | Sodium channel protein type 5 subunit alpha | Tier 1.5 | 0.953 | 1 | 16 | 0 | 0 | long QT syndrome 3 |
| Q8WZ42 | TTN | Titin | Tier 1 | 0.953 | 1 | 64 | 0 | 1 | dilated cardiomyopathy |
| Q969N2 | PIGT | GPI-anchor transamidase component PIGT | Tier 1.5 | 0.953 | 1 | 3 | 0 | 0 | multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| Q9NQ11 | ATP13A2 | Polyamine-transporting ATPase 13A2 | Tier 1 | 0.953 | 1 | 25 | 0 | 0 | Kufor-Rakeb syndrome |
| P35499 | SCN4A | Sodium channel protein type 4 subunit alpha | Tier 1 | 0.952 | 1 | 3 | 0 | 0 | paramyotonia congenita of Von Eulenburg |
| P37173 | TGFBR2 | TGF-beta receptor type-2 | Tier 1 | 0.952 | 1 | 22 | 0 | 1 | Loeys-Dietz syndrome |
| Q99250 | SCN2A | Sodium channel protein type 2 subunit alpha | Tier 1.5 | 0.952 | 1 | 5 | 0 | 0 | developmental and epileptic encephalopathy, 11 |
| O00571 | DDX3X | ATP-dependent RNA helicase DDX3X | Tier 1 | 0.951 | 1 | 17 | 0 | 0 | X-linked non-syndromic intellectual disability |
| P19438 | TNFRSF1A | Tumor necrosis factor receptor superfamily member 1A | Tier 1 | 0.951 | 1 | 13 | 0 | 1 | TNF receptor 1-associated periodic fever syndrome |
| P25189 | MPZ | Myelin protein P0 | Tier 1.5 | 0.951 | 1 | 2 | 0 | 0 | Charcot-Marie-Tooth disease type 1B |
| P07359 | GP1BA | Platelet glycoprotein Ib alpha chain | Tier 1 | 0.95 | 1 | 22 | 0 | 0 | Bernard-Soulier syndrome |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Tier 1 | 0.95 | 1 | 23 | 0 | 0 | Capillary malformation - arteriovenous malformation |
| Q9HAB3 | SLC52A2 | Solute carrier family 52, riboflavin transporter, member 2 | Tier 1.5 | 0.95 | 1 | 1 | 0 | 0 | riboflavin transporter deficiency |
| Q9Y653 | ADGRG1 | Adhesion G-protein coupled receptor G1 | Tier 1.5 | 0.95 | 1 | 1 | 0 | 0 | bilateral frontoparietal polymicrogyria |
| P06744 | GPI | Glucose-6-phosphate isomerase | Tier 1 | 0.949 | 1 | 13 | 0 | 1 | hemolytic anemia due to glucophosphate isomerase deficiency |
| P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Tier 1.5 | 0.949 | 1 | 11 | 0 | 1 | acute myeloid leukemia |
| Q9NRA2 | SLC17A5 | Sialin | Tier 1 | 0.949 | 1 | 7 | 0 | 0 | free sialic acid storage disease, infantile form |
| P13473 | LAMP2 | Lysosome-associated membrane glycoprotein 2 | Tier 1.5 | 0.948 | 1 | 2 | 0 | 0 | Glycogen Storage Disease Type 2b |
| P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Tier 1 | 0.948 | 1 | 13 | 0 | 1 | achondroplasia |
| P36894 | BMPR1A | Bone morphogenetic protein receptor type-1A | Tier 1 | 0.948 | 1 | 11 | 0 | 1 | juvenile polyposis syndrome |
| P36897 | TGFBR1 | TGF-beta receptor type-1 | Tier 1 | 0.948 | 1 | 44 | 0 | 1 | Loeys-Dietz syndrome 1 |
| P63092 | GNAS | Guanine nucleotide-binding protein G(s) subunit alpha isoforms short | Tier 1 | 0.948 | 1 | 100 | 0 | 0 | pseudohypoparathyroidism type 1A |
| Q5JWF2 | GNAS | Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas | Tier 1 | 0.948 | 1 | 9 | 0 | 0 | pseudohypoparathyroidism type 1A |
| Q8WZA1 | POMGNT1 | Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 | Tier 1 | 0.948 | 1 | 10 | 0 | 0 | muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 |
| P04156 | PRNP | Major prion protein | Tier 1 | 0.947 | 1 | 70 | 0 | 1 | Gerstmann-Straussler-Scheinker syndrome |
| P08514 | ITGA2B | Integrin alpha-IIb | Positive Control | 0.947 | 1 | 78 | 1 | 0 | Glanzmann thrombasthenia 1 |
| P14770 | GP9 | Platelet glycoprotein IX | Tier 1.5 | 0.947 | 1 | 2 | 0 | 0 | Bernard-Soulier syndrome |
| P16615 | ATP2A2 | Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 | Tier 1 | 0.947 | 1 | 15 | 0 | 0 | Darier disease |
| Q13936 | CACNA1C | Voltage-dependent L-type calcium channel subunit alpha-1C | Tier 1 | 0.947 | 1 | 33 | 0 | 0 | Timothy syndrome |
| P02730 | SLC4A1 | Band 3 anion transport protein | Tier 1 | 0.946 | 1 | 54 | 0 | 0 | hereditary spherocytosis type 4 |
| P05106 | ITGB3 | Integrin beta-3 | Positive Control | 0.946 | 1 | 123 | 1 | 1 | Glanzmann thrombasthenia 1 |
| P08069 | IGF1R | Insulin-like growth factor 1 receptor | Tier 1 | 0.945 | 1 | 46 | 0 | 1 | growth delay due to insulin-like growth factor I resistance |
| P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Tier 1.5 | 0.945 | 1 | 14 | 0 | 1 | gastrointestinal stromal tumor |
| Q13563 | PKD2 | Polycystin-2 | Tier 1 | 0.943 | 1 | 31 | 0 | 1 | polycystic kidney disease 2 |
| Q9H3H5 | DPAGT1 | UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase | Tier 1 | 0.943 | 1 | 8 | 0 | 0 | DPAGT1-congenital disorder of glycosylation |
| O75844 | ZMPSTE24 | CAAX prenyl protease 1 homolog | Tier 1 | 0.942 | 1 | 4 | 0 | 1 | mandibuloacral dysplasia with type B lipodystrophy |
| P51798 | CLCN7 | H(+)/Cl(-) exchange transporter 7 | Tier 1.5 | 0.942 | 1 | 9 | 0 | 0 | Autosomal recessive malignant osteopetrosis |
| P25942 | CD40 | Tumor necrosis factor receptor superfamily member 5 | Tier 1 | 0.941 | 1 | 14 | 0 | 1 | hyper-IgM syndrome type 3 |
| P49810 | PSEN2 | Presenilin-2 | Tier 1 | 0.941 | 1 | 2 | 0 | 0 | early-onset autosomal dominant Alzheimer disease |
| P58335 | ANTXR2 | Anthrax toxin receptor 2 | Tier 1 | 0.941 | 1 | 14 | 0 | 1 | hyaline fibromatosis syndrome |
| O94766 | B3GAT3 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 | Tier 1 | 0.94 | 1 | 3 | 0 | 0 | Larsen-like syndrome, B3GAT3 type |
| P61073 | CXCR4 | C-X-C chemokine receptor type 4 | Tier 1 | 0.94 | 1 | 33 | 0 | 1 | WHIM syndrome |
| Q9H2M9 | RAB3GAP2 | Rab3 GTPase-activating protein non-catalytic subunit | Tier 1 | 0.939 | 1 | 1 | 0 | 0 | Cataract - intellectual disability - hypogonadism |
| Q14118 | DAG1 | Dystroglycan 1 | Tier 1 | 0.938 | 1 | 8 | 0 | 0 | autosomal recessive limb-girdle muscular dystrophy type 2P |
| Q9UPN3 | MACF1 | Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 | Tier 1 | 0.938 | 1 | 3 | 0 | 0 | lissencephaly 9 with complex brainstem malformation |
| Q9Y5Y0 | FLVCR1 | Choline/ethanolamine transporter FLVCR1 | Tier 1 | 0.938 | 1 | 8 | 0 | 0 | Posterior column ataxia - retinitis pigmentosa |
| P08473 | MME | Neprilysin | Tier 1 | 0.937 | 1 | 16 | 0 | 0 | Charcot-Marie-Tooth disease axonal type 2T |
| P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Tier 1 | 0.937 | 1 | 2 | 0 | 0 | lymphatic malformation 1 |
| Q96JI7 | SPG11 | Spatacsin | Tier 1.5 | 0.937 | 1 | 3 | 0 | 0 | Autosomal recessive spastic paraplegia type 11 |
| Q9NW15 | ANO10 | Anoctamin-10 | Tier 1 | 0.937 | 1 | 5 | 0 | 0 | autosomal recessive spinocerebellar ataxia 10 |
| P05023 | ATP1A1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Tier 1.5 | 0.936 | 1 | 10 | 0 | 0 | Charcot-Marie-tooth disease, axonal, type 2DD |
| Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Tier 1 | 0.936 | 1 | 5 | 0 | 1 | spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome |
| Q6PJF5 | RHBDF2 | Inactive rhomboid protein 2 | Tier 1 | 0.936 | 1 | 5 | 0 | 0 | palmoplantar keratoderma-esophageal carcinoma syndrome |
| Q8TD43 | TRPM4 | Transient receptor potential cation channel subfamily M member 4 | Tier 1.5 | 0.936 | 1 | 25 | 0 | 0 | Familial progressive cardiac conduction defect |
| O75880 | SCO1 | Cytochrome c oxidase assembly factor SCO1 | Tier 1 | 0.935 | 1 | 10 | 0 | 0 | mitochondrial complex IV deficiency, nuclear type 4 |
| P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Tier 1.5 | 0.934 | 1 | 63 | 0 | 1 | non-small cell lung carcinoma |
| P15529 | CD46 | Membrane cofactor protein | Tier 1.5 | 0.934 | 1 | 7 | 0 | 1 | atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| Q9NP58 | ABCB6 | ATP-binding cassette sub-family B member 6 | Tier 1 | 0.934 | 1 | 16 | 0 | 0 | dyschromatosis universalis hereditaria 3 |
| O94856 | NFASC | Neurofascin | Tier 1.5 | 0.933 | 1 | 2 | 0 | 0 | neurodevelopmental disorder with central and peripheral motor dysfunction |
| P13987 | CD59 | CD59 glycoprotein | Tier 1 | 0.932 | 1 | 17 | 0 | 1 | primary CD59 deficiency |
| Q13554 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Tier 1 | 0.932 | 1 | 4 | 0 | 1 | intellectual disability, autosomal dominant 54 |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Tier 1 | 0.931 | 1 | 100 | 0 | 1 | Total congenital cataract |
| Q8N766 | EMC1 | ER membrane protein complex subunit 1 | Tier 1 | 0.931 | 1 | 10 | 0 | 0 | cerebellar atrophy, visual impairment, and psychomotor retardation; |
| P12821 | ACE | Angiotensin-converting enzyme | Tier 1 | 0.93 | 1 | 97 | 0 | 1 | diabetic nephropathy |
| Q15746 | MYLK | Myosin light chain kinase, smooth muscle | Tier 1.5 | 0.93 | 1 | 7 | 0 | 0 | aortic aneurysm, familial thoracic 7 |
| P78536 | ADAM17 | Disintegrin and metalloproteinase domain-containing protein 17 | Tier 1 | 0.929 | 1 | 33 | 0 | 0 | neonatal inflammatory skin and bowel disease |
| Q02094 | RHAG | Ammonium transporter Rh type A | Tier 1.5 | 0.929 | 1 | 8 | 0 | 0 | Rh deficiency syndrome |
| P00846 | MT-ATP6 | ATP synthase F(0) complex subunit a | Tier 1.5 | 0.928 | 1 | 10 | 0 | 0 | NARP syndrome |
| Q9BVK8 | TMEM147 | BOS complex subunit TMEM147 | Tier 1 | 0.928 | 1 | 3 | 0 | 0 | neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly |
| O95714 | HERC2 | E3 ubiquitin-protein ligase HERC2 | Tier 1 | 0.925 | 1 | 15 | 0 | 0 | developmental delay with autism spectrum disorder and gait instability |
| P02511 | CRYAB | Alpha-crystallin B chain | Tier 1 | 0.925 | 1 | 21 | 0 | 1 | myofibrillar myopathy 2 |
| Q14432 | PDE3A | cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A | Tier 1 | 0.924 | 1 | 9 | 0 | 1 | Brachydactyly - arterial hypertension |
| P20963 | CD247 | T-cell surface glycoprotein CD3 zeta chain | Tier 1 | 0.923 | 1 | 38 | 0 | 0 | immunodeficiency 25 |
| P24394 | IL4R | Interleukin-4 receptor subunit alpha | Tier 1.5 | 0.923 | 1 | 10 | 0 | 1 | asthma |
| P01019 | AGT | Angiotensinogen | Tier 1 | 0.921 | 1 | 22 | 0 | 1 | renal tubular dysgenesis |
| P01730 | CD4 | T-cell surface glycoprotein CD4 | Tier 1 | 0.921 | 1 | 85 | 0 | 1 | HIV infection |
| P16671 | CD36 | Platelet glycoprotein 4 | Tier 1.5 | 0.921 | 1 | 1 | 0 | 1 | platelet-type bleeding disorder 10 |
| P25445 | FAS | Tumor necrosis factor receptor superfamily member 6 | Tier 1.5 | 0.921 | 1 | 7 | 0 | 1 | autoimmune lymphoproliferative syndrome type 1 |
| P07204 | THBD | Thrombomodulin | Tier 1 | 0.92 | 1 | 13 | 0 | 1 | thrombomodulin-related bleeding disorder |
| P55011 | SLC12A2 | Solute carrier family 12 member 2 | Tier 1 | 0.92 | 1 | 14 | 0 | 0 | Delpire-McNeill syndrome |
| Q02413 | DSG1 | Desmoglein-1 | Tier 1.5 | 0.92 | 1 | 1 | 0 | 0 | severe dermatitis-multiple allergies-metabolic wasting syndrome |
| P09758 | TACSTD2 | Tumor-associated calcium signal transducer 2 | Tier 1.5 | 0.919 | 1 | 7 | 0 | 1 | gelatinous drop-like corneal dystrophy |
| Q9H244 | P2RY12 | P2Y purinoceptor 12 | Tier 1 | 0.919 | 1 | 5 | 0 | 1 | platelet-type bleeding disorder 8 |
| P08575 | PTPRC | Receptor-type tyrosine-protein phosphatase C | Tier 1 | 0.916 | 1 | 6 | 0 | 1 | immunodeficiency 104 |
| P21589 | NT5E | 5'-nucleotidase | Tier 1 | 0.916 | 1 | 50 | 0 | 1 | hereditary arterial and articular multiple calcification syndrome |
| P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Tier 1 | 0.915 | 1 | 52 | 0 | 1 | cancer |