Malaria, susceptibility to
diseaseOn this page
Also known as malaria, cerebral, reduced risk ofmalaria, cerebral, resistance tomalaria, cerebral, susceptibility tomalaria, protection againstmalaria, resistance tomalaria, Severe, resistance tomalaria, Severe, susceptibility tomalaria, vivax, protection againstresistance to malaria due to G6PD deficiency
Summary
Malaria, susceptibility to (MONDO:0021024) is a disease with 12 cohort genes.
At a glance
- Cohort genes: 12
- ClinVar variants: 340
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | malaria, susceptibility to |
| Mondo ID | MONDO:0021024 |
| OMIM | 611162 |
| UMLS | C1970028 |
| MedGen | 370149 |
| Is cancer (heuristic) | no |
Also known as: malaria, cerebral, reduced risk of · malaria, cerebral, resistance to · malaria, cerebral, susceptibility to · malaria, protection against · malaria, resistance to · malaria, Severe, resistance to · malaria, Severe, susceptibility to · malaria, susceptibility to · malaria, vivax, protection against · resistance to malaria due to G6PD deficiency
Data availability: 340 ClinVar variants.
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease susceptibility › inherited disease susceptibility › malaria, susceptibility to
Related subtypes (283): microvascular complications of diabetes, susceptibility, Mycobacterium tuberculosis, susceptibility, bacteremia, susceptibility, pregnancy loss, recurrent, susceptibility, autoimmune thyroid disease, susceptibility to, susceptibility to HIV infection, appendicitis, proneness to, atherosclerosis susceptibility, multiple sclerosis, susceptibility to, dyslexia, susceptibility to, 1, endometriosis, susceptibility to, 1, osteoarthritis susceptibility 2, essential hypertension, genetic, osteoarthritis susceptibility 1, otitis media, susceptibility to, pelvic organ prolapse, susceptibility to, pulmonary edema of mountaineers, susceptibility to, sarcoidosis, susceptibility to, 1, strabismus, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 1, predisposition to invasive fungal disease due to CARD9 deficiency, celiac disease, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, 1, hypervitaminosis a, susceptibility to, kuru, susceptibility to, leprosy, susceptibility to, 3, nonarteritic anterior ischemic optic neuropathy, susceptibility to, diabetes mellitus, insulin-dependent, X-linked, susceptibility to, coronary heart disease, susceptibility to, 3, dyslexia, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 15, Leber optic atrophy, susceptibility to, dyslexia, susceptibility to, 2, Helicobacter pylori infection, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 1, inherited susceptibility to asthma, renal dysplasia, cystic, susceptibility to, systemic lupus erythematosus, susceptibility to, 1, leishmaniasis, tegumentary, susceptibility to, xanthomatosis, susceptibility to, hyperlipidemia, combined, 1, urinary tract infections, recurrent, susceptibility to, hypertension, essential, susceptibility to, 1, hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection, dyslexia, susceptibility to, 3, Ascaris lumbricoides infection, susceptibility to, hypertension, essential, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 3, nephrolithiasis, uric acid, susceptibility to, atrioventricular septal defect, susceptibility to, 2, vitiligo-associated multiple autoimmune disease susceptibility 1, polysubstance abuse, susceptibility to, dyslexia, susceptibility to, 6, glaucoma, normal tension, susceptibility to, anorexia nervosa, susceptibility to, 1, stroke, susceptibility to, 1, dyslexia, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 2, familial meningioma, celiac disease, susceptibility to, 5, systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1, hypertension, essential, susceptibility to, 3, coronary heart disease, susceptibility to, 1, bulimia nervosa, susceptibility to, 1, leprosy, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 9, Parkinson disease 11, autosomal dominant, susceptibility to, focal segmental glomerulosclerosis 3, susceptibility to, autoimmune disease, susceptibility to, 1, osteoarthritis susceptibility 3, systemic lupus erythematosus with nephritis, susceptibility to, 1, systemic lupus erythematosus with nephritis, susceptibility to, 2, systemic lupus erythematosus with nephritis, susceptibility to, 3, coronary heart disease, susceptibility to, 2, coronary heart disease, susceptibility to, 4, autoimmune disease, susceptibility to, 2, autoimmune disease, susceptibility to, 3, systemic lupus erythematosus, susceptibility to, 4, myocardial infarction, susceptibility to, major depressive disorder 1, legionnaire disease, susceptibility to, myocardial infarction, susceptibility to, 2, major depressive disorder 2, hypertension, essential, susceptibility to, 4, epilepsy, idiopathic generalized, susceptibility to, 3, myoclonic epilepsy, juvenile, susceptibility to, 3, orofacial cleft 6, susceptibility to, coronary heart disease, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 1, attention deficit-hyperactivity disorder, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 3, attention deficit-hyperactivity disorder, susceptibility to, 4, Alzheimer disease 9, susceptibility to respiratory infections associated with CD8alpha chain mutation, dyslexia, susceptibility to, 8, autoimmune disease, susceptibility to, 4, hepatitis C virus, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 4, celiac disease, susceptibility to, 4, celiac disease, susceptibility to, 2, celiac disease, susceptibility to, 3, leprosy, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 5, systemic lupus erythematosus, susceptibility to, 6, opioid dependence, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 8, hypertension, essential, susceptibility to, 5, hypertension, essential, susceptibility to, 6, Parkinson disease 13, autosomal dominant, susceptibility to, West Nile virus, susceptibility to, hepatitis B virus, susceptibility to, Buruli ulcer, susceptibility to, osteoarthritis susceptibility 4, systemic lupus erythematosus, susceptibility to, 9, coronary heart disease, susceptibility to, 7, hypertension, essential, susceptibility to, 7, leprosy, susceptibility to, 4, hypertension, essential, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 13, coronary heart disease, susceptibility to, 8, myoclonic epilepsy, juvenile, susceptibility to, 4, susceptibility to visceral leishmaniasis, 2, susceptibility to visceral leishmaniasis, 3, celiac disease, susceptibility to, 6, epilepsy, idiopathic generalized, susceptibility to, 5, epilepsy, childhood absence, susceptibility to, 6, celiac disease, susceptibility to, 7, celiac disease, susceptibility to, 8, celiac disease, susceptibility to, 9, celiac disease, susceptibility to, 10, celiac disease, susceptibility to, 11, celiac disease, susceptibility to, 12, celiac disease, susceptibility to, 13, coronary heart disease, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, susceptibility to, 11, systemic lupus erythematosus, susceptibility to, 12, epilepsy, childhood absence, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 6, systemic lupus erythematosus, susceptibility to, 13, sarcoidosis, susceptibility to, 2, sarcoidosis, susceptibility to, 3, osteoarthritis susceptibility 5, osteoarthritis susceptibility 6, focal segmental glomerulosclerosis 4, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 8, herpes simplex encephalitis, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 10, pelvic organ prolapse, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 14, leprosy, susceptibility to, 5, thyrotoxic periodic paralysis, susceptibility to, 2, hearing loss, cisplatin-induced, susceptibility to, susceptibility to mononeuropathy of the median nerve, mild, fatty liver disease, nonalcoholic, susceptibility to, 2, leprosy, susceptibility to, 6, autoimmune disease, susceptibility to, 6, Parkinson disease 5, autosomal dominant, susceptibility to, aspergillosis, susceptibility to, sick sinus syndrome 3, susceptibility to, Parkinson disease 18, autosomal dominant, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 9, dengue virus, susceptibility to, coronary heart disease, susceptibility to, 6, podoconiosis, susceptibility to, peripartum cardiomyopathy, susceptibility to, influenza, severe, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 3, human herpesvirus 8, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 12, herpes simplex encephalitis, susceptibility to, 3, herpes simplex encephalitis, susceptibility to, 4, pulmonary hypertension, neonatal, susceptibility to, craniosynostosis 5, susceptibility to, melioidosis, susceptibility to, chronic mountain sickness, susceptibility to, herpes simplex encephalitis, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 14, hereditary neoplastic syndrome, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, susceptibility to localized juvenile periodontitis, inherited susceptibility to mycobacterial diseases, neural tube defects, susceptibility to, multiple system atrophy 1, susceptibility to, nephrolithiasis susceptibility caused by SLC26A1, myoclonic epilepsy, juvenile, susceptibility to, 1, epilepsy, childhood absence, susceptibility to, 1, autism, susceptiblity to, susceptibility to visceral leishmaniasis, 1, spondyloarthropathy, susceptibility to, herpes simplex encephalitis, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 18, epilepsy, idiopathic generalized, susceptibility to, 15, hepatitis, fulminant viral, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 16, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency, aortic aneurysm, familial thoracic 11, susceptibility to, craniosynostosis 7, amyotrophic lateral sclerosis, susceptibility to, 24, amyotrophic lateral sclerosis, susceptibility to, 25, epilepsy, juvenile myoclonic, susceptibility to, 10, susceptibility to angioedema induced by ACE inhibitors, epidermodysplasia verruciformis, susceptibility to, exfoliation syndrome, susceptibility to, basal cell carcinoma, susceptibility to, graft-versus-host disease, susceptibility to, narcolepsy, susceptibility to, pulmonary disease, chronic obstructive, susceptibility to, restless legs syndrome, susceptibility to, psoriasis, susceptibility to, age related macular degeneration, susceptibility to, allergic rhinitis, susceptibility to, dermatitis, atopic, susceptibility to, Hirschsprung disease, susceptibility to, diabetes mellitus, ketosis-prone, schizophrenia, susceptibility to, radioulnar synostosis, nonsyndromic, susceptibility to, lumbar disk herniation, susceptibility to, lumbar disk degeneration, susceptibility to, psoriatic arthritis, susceptibility to, migraine with or without aura, susceptibility to, Alzheimer disease, susceptibility to, mitochondrial, Asperger syndrome, susceptibility to, tobacco addiction, susceptibility to, lipodystrophy, partial, acquired, susceptibility to, Graves disease, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 17, breast-ovarian cancer, familial, susceptibility to, blepharospasm, benign essential, susceptibility to, hemorrhage, intracerebral, susceptibility to, IgA nephropathy, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 7, vitiligo-associated multiple autoimmune disease susceptibility 6, delayed sleep phase syndrome, susceptibility to, encephalitis, acute, infection-induced, susceptibility to, malignant hyperthermia, susceptibility to, multicentric Castleman disease, susceptibility to, pelvic organ prolapse, susceptibility to, 1, amyotrophic lateral sclerosis, susceptibility to, 13, Graves disease, susceptibility to, X-linked 2, autoimmune thyroid disease, susceptibility to, 5, atrioventricular septal defect, susceptibility to, 1, epilepsy, juvenile myoclonic, susceptibility to, 6, autoimmune disease, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 6, seasonal affective disorder, susceptibility to, ventricular fibrillation during myocardial infarction, susceptibility to, UV-induced skin damage, susceptibility to, antisocial behavior, susceptibility to, aplastic anemia, susceptibility to, cardiomyopathy, familial hypertrophic, 4, susceptibility to, cirrhosis, noncryptogenic, susceptibility to, coronary artery disease, severe, susceptibility to, dengue fever, susceptibility to, dengue hemorrhagic fever, susceptibility to, dengue shock syndrome, susceptibility to, dyslexia, susceptibility to, 4, dyslexia, susceptibility to, 7, efavirenz central nervous system toxicity, susceptibility to, obesity, susceptibility to, bleeding disorder, platelet-type, 13, susceptibility to, Schistosoma mansoni infection, susceptibility/resistance to, Parkinson disease 24, autosomal dominant, susceptibility to, iron overload, susceptibility to, hydrocephalus, congenital, 5, susceptibility to, hearing loss, noise-induced, susceptibility to, hyperemesis gravidarum, susceptibility to, Parkinson disease 26, autosomal dominant, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 19, polycystic kidney disease 9, susceptibility to, rhabdomyolysis, susceptibility to, scoliosis, isolated, susceptibility to, dystonia 38, susceptibility to, gallbladder disease 4, epilepsy, juvenile absence, susceptibility to, GBA1-related Parkinson disease, susceptibility, SH2B3-related immune system disorder
Subtypes (1): malaria, mild, susceptibility to
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
340 retrieved; paginated sample, class counts are floors:
131 uncertain significance, 62 pathogenic/likely pathogenic, 56 pathogenic, 50 conflicting classifications of pathogenicity, 17 likely pathogenic, 11 benign/likely benign, 10 likely benign, 2 benign, 1 risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1012319 | NM_001001548.3(CD36):c.1142T>G (p.Leu381Ter) | CD36 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 225309 | NM_001001548.3(CD36):c.332_333del (p.Thr111fs) | CD36 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 587500 | NM_001001548.3(CD36):c.784dup (p.Gln262fs) | CD36 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 100057 | NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 100058 | NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 100059 | NM_000402.4(G6PD):c.1478G>A (p.Arg493His) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 10362 | NM_000402.4(G6PD):c.944G>A (p.Arg315His) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10363 | NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 10367 | NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10371 | NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10372 | NM_000402.4(G6PD):c.934G>C (p.Asp312His) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10376 | NM_000402.4(G6PD):c.1250G>A (p.Arg417His) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 10386 | NM_000402.4(G6PD):c.961G>A (p.Val321Met) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10388 | NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10391 | NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 10393 | NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10401 | NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10402 | NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10403 | NM_000402.4(G6PD):c.185A>G (p.His62Arg) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10404 | NM_000402.4(G6PD):c.482G>T (p.Gly161Val) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10406 | NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10407 | NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 10411 | G6PD NARA | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10417 | NM_000402.4(G6PD):c.683G>A (p.Arg228His) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 10422 | NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) | G6PD | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1068217 | NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1075240 | NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1722638 | NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1722734 | NM_001360016.2(G6PD):c.497G>A (p.Arg166His) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 37123 | NM_000402.4(G6PD):c.292G>A (p.Val98Met) | G6PD | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 40 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SCN8A | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| SCN8A | Orphanet:306 | Self-limited infantile epilepsy |
| SCN8A | Orphanet:352582 | Familial infantile myoclonic epilepsy |
| SCN8A | Orphanet:442835 | Non-specific early-onset epileptic encephalopathy |
| SLC4A1 | Orphanet:3202 | Dehydrated hereditary stomatocytosis |
| SLC4A1 | Orphanet:398088 | Hereditary cryohydrocytosis with normal stomatin |
| SLC4A1 | Orphanet:822 | Hereditary spherocytosis |
| SLC4A1 | Orphanet:93608 | Autosomal dominant distal renal tubular acidosis |
| SLC4A1 | Orphanet:93610 | Distal renal tubular acidosis with anemia |
| SLC4A1 | Orphanet:98868 | Southeast Asian ovalocytosis |
| G6PD | Orphanet:466026 | Class I glucose-6-phosphate dehydrogenase deficiency |
| HBB | Orphanet:2132 | Hemoglobin C disease |
| HBB | Orphanet:2133 | Hemoglobin E disease |
| HBB | Orphanet:231214 | Beta-thalassemia major |
| HBB | Orphanet:231222 | Beta-thalassemia intermedia |
| HBB | Orphanet:231226 | Unstable beta globin chain variant disease |
| HBB | Orphanet:231237 | Delta-beta-thalassemia |
| HBB | Orphanet:231242 | Hemoglobin C-beta-thalassemia syndrome |
| HBB | Orphanet:231249 | Hemoglobin E-beta-thalassemia syndrome |
| HBB | Orphanet:232 | Sickle cell anemia |
| HBB | Orphanet:247511 | Autosomal dominant secondary polycythemia |
| HBB | Orphanet:251365 | Sickle cell S-C disease |
| HBB | Orphanet:251370 | Sickle cell S-D Punjab disease |
| HBB | Orphanet:251375 | Sickle cell S-E disease |
| HBB | Orphanet:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
| HBB | Orphanet:330041 | Hemoglobin M disease |
| HBB | Orphanet:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome |
| HBB | Orphanet:695140 | Sickle cell-beta zero-thalassemia |
| HBB | Orphanet:695147 | Sickle cell-beta plus-thalassemia |
| HBB | Orphanet:699822 | Sickle cell S-Lepore disease |
| HBB | Orphanet:700090 | Sickle cell S-O Arab disease |
| HBB | Orphanet:700107 | Sickle cell S-other specified hemoglobin variant |
| HBB | Orphanet:700111 | Homozygous hemoglobin O Arab disease |
| HBB | Orphanet:715125 | Hemoglobin E-beta-thalassemia intermedia |
| HBB | Orphanet:715128 | Hemoglobin E-beta-thalassemia major |
| HBB | Orphanet:715135 | Hemoglobin Lepore-beta-thalassemia intermedia |
| HBB | Orphanet:715140 | Hemoglobin Lepore-beta-thalassemia major |
| HBB | Orphanet:715143 | Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene |
| HBB | Orphanet:715157 | Low oxygen affinity beta chain hemoglobin disease |
| HBB | Orphanet:90039 | Hemoglobin D disease |
Cohort genes → proteins
12 cohort genes, 12 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 12 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SCN8A | HGNC:10596 | ENSG00000196876 | Q9UQD0 | Sodium channel protein type 8 subunit alpha | clinvar |
| SLC4A1 | HGNC:11027 | ENSG00000004939 | P02730 | Band 3 anion transport protein | clinvar |
| CD36 | HGNC:1663 | ENSG00000135218 | P16671 | Platelet glycoprotein 4 | clinvar |
| TIRAP | HGNC:17192 | ENSG00000150455 | P58753 | Toll/interleukin-1 receptor domain-containing adapter protein | clinvar |
| CISH | HGNC:1984 | ENSG00000114737 | Q9NSE2 | Cytokine-inducible SH2-containing protein | clinvar |
| NANOS2 | HGNC:23292 | ENSG00000188425 | P60321 | Nanos homolog 2 | clinvar |
| CR1 | HGNC:2334 | ENSG00000203710 | P17927 | Complement receptor type 1 | clinvar |
| FCGR2A | HGNC:3616 | ENSG00000143226 | P12318 | Low affinity immunoglobulin gamma Fc region receptor II-a | clinvar |
| G6PD | HGNC:4057 | ENSG00000160211 | P11413 | Glucose-6-phosphate 1-dehydrogenase | clinvar |
| HBB | HGNC:4827 | ENSG00000244734 | P68871 | Hemoglobin subunit beta | clinvar |
| ICAM1 | HGNC:5344 | ENSG00000090339 | P05362 | Intercellular adhesion molecule 1 | clinvar |
| NOS2 | HGNC:7873 | ENSG00000007171 | P35228 | Nitric oxide synthase, inducible | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SCN8A | Sodium channel protein type 8 subunit alpha | Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradie… |
| SLC4A1 | Band 3 anion transport protein | Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. |
| CD36 | Platelet glycoprotein 4 | Multifunctional glycoprotein that acts as a receptor for a broad range of ligands. |
| TIRAP | Toll/interleukin-1 receptor domain-containing adapter protein | Adapter involved in TLR2, TLR4 and RAGE signaling pathways in the innate immune response. |
| CISH | Cytokine-inducible SH2-containing protein | SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. |
| NANOS2 | Nanos homolog 2 | Plays a key role in the sexual differentiation of germ cells by promoting the male fate but suppressing the female fate. |
| CR1 | Complement receptor type 1 | Membrane immune adherence receptor that plays a critical role in the capture and clearance of complement-opsonized pathogens by erythrocytes and monocytes/macrophages. |
| FCGR2A | Low affinity immunoglobulin gamma Fc region receptor II-a | Binds to the Fc region of immunoglobulins gamma. |
| G6PD | Glucose-6-phosphate 1-dehydrogenase | Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. |
| HBB | Hemoglobin subunit beta | Involved in oxygen transport from the lung to the various peripheral tissues. |
| ICAM1 | Intercellular adhesion molecule 1 | Cell adhesion molecule that functions as a receptor ligand of the signaling receptor ITGAL:ITGB2/LFA-1 (lymphocyte-function associated (LFA) molecule 1) ensuring leukocyte cell-cell adhesion, by providing a calibrated system to namely adju… |
| NOS2 | Nitric oxide synthase, inducible | Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. |
Protein-family classification
Druggable: 6 · Difficult: 2 · Unknown: 4 · Druggable fraction: 0.5
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Complement | 1 | 22.3× | 0.216 |
| Antibody/Immunoglobulin | 2 | 4.9× | 0.216 |
| Ion channel | 1 | 9.3× | 0.239 |
| Enzyme (other) | 2 | 2.0× | 0.462 |
| Scaffold/PPI | 1 | 1.4× | 0.715 |
| Transcription factor | 1 | 0.7× | 0.919 |
| Other/Unknown | 4 | 0.6× | 0.969 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SCN8A | Ion channel | yes | IQ_motif_EF-hand-BS, Na_channel_asu, Ion_trans_dom | |
| SLC4A1 | Other/Unknown | no | Anion_exchange, Anion_exchange_1, HCO3_transpt_euk | |
| CD36 | Other/Unknown | no | CD36_fam, CD36/SCARB1/SNMP1 | |
| TIRAP | Other/Unknown | no | TIR_dom, Tol-interleuk_rcpt_adapt_Tirap, Toll_tir_struct_dom_sf | |
| CISH | Scaffold/PPI | no | SH2, SOCS_box, CIS_SH2 | |
| NANOS2 | Transcription factor | no | Nanos/Xcar2, Znf_nanos-typ, Nanos_sf | |
| CR1 | Complement | yes | Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, SEZ6_CSMD_C4BPB_Regulators | |
| FCGR2A | Antibody/Immunoglobulin | yes | Ig_sub2, Ig_sub, Ig-like_dom | |
| G6PD | Enzyme (other) | yes | 1.1.1.49 | G6P_DH, G6P_DH_AS, G6P_DH_NAD-bd |
| HBB | Other/Unknown | no | Globin, Hemoglobin_b, Globin-like_sf | |
| ICAM1 | Antibody/Immunoglobulin | yes | Ig_sub, ICAM_VCAM_N, ICAM | |
| NOS2 | Enzyme (other) | yes | 1.14.13.39 | Flavdoxin-like, OxRdtase_FAD/NAD-bd, Flavoprot_Pyr_Nucl_cyt_Rdtase |
Expression context
Cohort genes with no expression data: 0.
10 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 12 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| monocyte | 5 |
| trabecular bone tissue | 2 |
| granulocyte | 2 |
| right testis | 2 |
| blood | 2 |
| vena cava | 2 |
| Brodmann (1909) area 23 | 1 |
| middle temporal gyrus | 1 |
| postcentral gyrus | 1 |
| bone marrow | 1 |
| bone marrow cell | 1 |
| adipose tissue of abdominal region | 1 |
| omental fat pad | 1 |
| buccal mucosa cell | 1 |
| oviduct epithelium | 1 |
| left lobe of thyroid gland | 1 |
| right lobe of thyroid gland | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| primordial germ cell in gonad | 1 |
| mononuclear cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SCN8A | 194 | ubiquitous | marker | Brodmann (1909) area 23, middle temporal gyrus, postcentral gyrus |
| SLC4A1 | 161 | tissue_specific | marker | trabecular bone tissue, bone marrow, bone marrow cell |
| CD36 | 252 | broad | marker | adipose tissue of abdominal region, omental fat pad, monocyte |
| TIRAP | 171 | ubiquitous | yes | oviduct epithelium, buccal mucosa cell, monocyte |
| CISH | 227 | ubiquitous | marker | granulocyte, left lobe of thyroid gland, right lobe of thyroid gland |
| NANOS2 | 32 | tissue_specific | yes | male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, right testis |
| CR1 | 184 | broad | marker | blood, monocyte, mononuclear cell |
| FCGR2A | 144 | broad | marker | blood, monocyte, leukocyte |
| G6PD | 218 | ubiquitous | marker | stromal cell of endometrium, granulocyte, right testis |
| HBB | 284 | broad | marker | monocyte, trabecular bone tissue, vena cava |
| ICAM1 | 256 | ubiquitous | marker | vena cava, upper lobe of left lung, upper lobe of lung |
| NOS2 | 153 | broad | marker | cartilage tissue, olfactory segment of nasal mucosa, mucosa of paranasal sinus |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CD36 | 5,268 |
| ICAM1 | 5,248 |
| G6PD | 4,226 |
| NOS2 | 3,214 |
| FCGR2A | 2,618 |
| CISH | 2,453 |
| SCN8A | 2,120 |
| SLC4A1 | 1,598 |
| TIRAP | 1,334 |
| CR1 | 1,218 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| CR1 | FCGR2A | string_interaction |
Structural data
PDB: 10 · AlphaFold-only: 2 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| HBB | P68871 | 350 |
| SLC4A1 | P02730 | 54 |
| G6PD | P11413 | 25 |
| ICAM1 | P05362 | 14 |
| NOS2 | P35228 | 13 |
| TIRAP | P58753 | 11 |
| FCGR2A | P12318 | 9 |
| SCN8A | Q9UQD0 | 7 |
| CR1 | P17927 | 7 |
| CD36 | P16671 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| NANOS2 | P60321 | 76.58 |
| CISH | Q9NSE2 | 73.91 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 91. Enrichment computed across 12 evidence-associated genes (11 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 11 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Erythrocytes take up oxygen and release carbon dioxide | 2 | 230.7× | 0.003 | SLC4A1, HBB |
| Erythrocytes take up carbon dioxide and release oxygen | 2 | 159.7× | 0.003 | SLC4A1, HBB |
| MyD88 deficiency (TLR2/4) | 2 | 109.3× | 0.003 | CD36, TIRAP |
| IRAK4 deficiency (TLR2/4) | 2 | 103.8× | 0.003 | CD36, TIRAP |
| Interleukin-4 and Interleukin-13 signaling | 3 | 28.1× | 0.003 | CD36, ICAM1, NOS2 |
| Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) | 1 | 1038.2× | 0.013 | SLC4A1 |
| Neutrophil degranulation | 4 | 8.4× | 0.013 | CD36, CR1, FCGR2A, HBB |
| Free fatty acids regulate insulin secretion | 1 | 346.1× | 0.022 | CD36 |
| Intracellular metabolism of fatty acids regulates insulin secretion | 1 | 346.1× | 0.022 | CD36 |
| Inhibition of nitric oxide production | 1 | 346.1× | 0.022 | NOS2 |
| Heme assimilation | 1 | 346.1× | 0.022 | HBB |
| MyD88:MAL(TIRAP) cascade initiated on plasma membrane | 2 | 27.7× | 0.022 | CD36, TIRAP |
| ER-Phagosome pathway | 2 | 23.6× | 0.022 | CD36, TIRAP |
| Cross-presentation of particulate exogenous antigens (phagosomes) | 1 | 129.8× | 0.047 | CD36 |
| NFE2L2 regulates pentose phosphate pathway genes | 1 | 129.8× | 0.047 | G6PD |
| O2/CO2 exchange in erythrocytes | 1 | 115.3× | 0.047 | SLC4A1 |
| Bicarbonate transporters | 1 | 103.8× | 0.047 | SLC4A1 |
| RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) | 1 | 103.8× | 0.047 | CR1 |
| Scavenging by Class B Receptors | 1 | 94.4× | 0.047 | CD36 |
| Pentose phosphate pathway | 1 | 86.5× | 0.047 | G6PD |
| FCGR activation | 1 | 79.9× | 0.047 | FCGR2A |
| Scavenging of heme from plasma | 1 | 79.9× | 0.047 | HBB |
| Diseases of Immune System | 1 | 79.9× | 0.047 | CD36 |
| Diseases associated with the TLR signaling cascade | 1 | 79.9× | 0.047 | CD36 |
| Nitric oxide stimulates guanylate cyclase | 1 | 74.2× | 0.049 | NOS2 |
| Binding and Uptake of Ligands by Scavenger Receptors | 1 | 49.4× | 0.070 | CD36 |
| Regulation of TLR by endogenous ligand | 1 | 45.1× | 0.071 | CD36 |
| Chaperone Mediated Autophagy | 1 | 45.1× | 0.071 | HBB |
| Growth hormone receptor signaling | 1 | 43.3× | 0.072 | CISH |
| Role of phospholipids in phagocytosis | 1 | 41.5× | 0.072 | FCGR2A |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 12 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cellular response to lipoteichoic acid | 2 | 255.3× | 0.004 | CD36, TIRAP |
| positive regulation of toll-like receptor 4 signaling pathway | 2 | 165.2× | 0.004 | CD36, TIRAP |
| positive regulation of interleukin-6 production | 3 | 41.7× | 0.004 | CD36, TIRAP, NOS2 |
| positive regulation of tumor necrosis factor production | 3 | 38.3× | 0.004 | CD36, TIRAP, FCGR2A |
| regulation of leukocyte mediated cytotoxicity | 1 | 1404.3× | 0.009 | ICAM1 |
| positive regulation of leukocyte mediated cytotoxicity | 1 | 1404.3× | 0.009 | NOS2 |
| immune complex clearance by erythrocytes | 1 | 1404.3× | 0.009 | CR1 |
| short-chain fatty acid transport | 1 | 1404.3× | 0.009 | CD36 |
| response to increased oxygen levels | 1 | 1404.3× | 0.009 | SLC4A1 |
| pH elevation | 1 | 1404.3× | 0.009 | SLC4A1 |
| ribose phosphate biosynthetic process | 1 | 1404.3× | 0.009 | G6PD |
| oxidised low-density lipoprotein particle clearance | 1 | 1404.3× | 0.009 | CD36 |
| negative regulation of serine-type endopeptidase activity | 1 | 1404.3× | 0.009 | CR1 |
| erythrocyte development | 2 | 87.8× | 0.009 | SLC4A1, HBB |
| positive regulation of nitric oxide biosynthetic process | 2 | 75.9× | 0.009 | CD36, HBB |
| positive regulation of interleukin-12 production | 2 | 65.3× | 0.009 | CD36, TIRAP |
| cellular response to amyloid-beta | 2 | 65.3× | 0.009 | CD36, ICAM1 |
| positive regulation of ERK1 and ERK2 cascade | 3 | 21.3× | 0.009 | CD36, TIRAP, ICAM1 |
| cell surface receptor signaling pathway | 3 | 16.0× | 0.009 | CD36, TIRAP, FCGR2A |
| inflammatory response | 4 | 12.6× | 0.009 | CD36, TIRAP, HBB, NOS2 |
| organ or tissue specific immune response | 1 | 702.2× | 0.011 | CR1 |
| immune complex clearance | 1 | 702.2× | 0.011 | CR1 |
| response to iron(III) ion | 1 | 702.2× | 0.011 | G6PD |
| peptidyl-cysteine S-nitrosylation | 1 | 702.2× | 0.011 | NOS2 |
| pentose biosynthetic process | 1 | 702.2× | 0.011 | G6PD |
| positive regulation of interleukin-15 production | 1 | 702.2× | 0.011 | TIRAP |
| TIRAP-dependent toll-like receptor 4 signaling pathway | 1 | 702.2× | 0.011 | TIRAP |
| negative regulation of plasma cell differentiation | 1 | 702.2× | 0.011 | CR1 |
| positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel | 1 | 702.2× | 0.011 | G6PD |
| positive regulation of blood microparticle formation | 1 | 702.2× | 0.011 | CD36 |
Therapeutics
Drug target analysis
Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 5 · Undrugged: 7
Druggability breadth: 8 of 12 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| SCN8A | IMIPRAMINE |
| G6PD | BREXANOLONE |
| HBB | CANDESARTAN CILEXETIL |
| ICAM1 | LIFITEGRAST |
| NOS2 | CHLORZOXAZONE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SCN8A | 25 | 4 |
| HBB | 23 | 4 |
| NOS2 | 10 | 4 |
| G6PD | 8 | 4 |
| ICAM1 | 2 | 4 |
| SLC4A1 | 0 | 0 |
| CD36 | 0 | 0 |
| TIRAP | 0 | 0 |
| CISH | 0 | 0 |
| NANOS2 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| IMIPRAMINE | 4 | SCN8A |
| SERTINDOLE | 4 | SCN8A |
| PIMOZIDE | 4 | SCN8A |
| NIFEDIPINE | 4 | SCN8A |
| DILTIAZEM | 4 | SCN8A |
| MIBEFRADIL | 4 | SCN8A |
| HALOPERIDOL | 4 | SCN8A |
| MEXILETINE | 4 | SCN8A |
| AMITRIPTYLINE | 4 | SCN8A |
| AMIODARONE | 4 | SCN8A |
| CHLORPROMAZINE | 4 | SCN8A |
| TETRACAINE | 4 | SCN8A |
| BREXANOLONE | 4 | G6PD |
| APOMORPHINE HYDROCHLORIDE | 4 | G6PD |
| PRASTERONE | 4 | G6PD |
| CANDESARTAN CILEXETIL | 4 | HBB |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | HBB |
| PHENAZOPYRIDINE HYDROCHLORIDE | 4 | HBB |
| MERCAPTOPURINE ANHYDROUS | 4 | HBB |
| AZACITIDINE | 4 | HBB |
| AZATHIOPRINE | 4 | HBB |
| TOPOTECAN HYDROCHLORIDE | 4 | HBB |
| ACYCLOVIR | 4 | HBB |
| FLUOROURACIL | 4 | HBB |
| RAUWOLFIA SERPENTINA | 4 | HBB |
| HYDROQUINONE | 4 | HBB |
| MENADIONE | 4 | HBB |
| THIOTEPA | 4 | HBB |
| THIOGUANINE | 4 | HBB |
| RESERPINE | 4 | HBB |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| NOS2 | 263 | Binding:255, Functional:5, ADMET:2, Unclassified:1 |
| SCN8A | 173 | Binding:148, Functional:16, ADMET:7, Toxicity:2 |
| ICAM1 | 111 | Binding:73, Functional:38 |
| HBB | 68 | Binding:50, Functional:18 |
| G6PD | 49 | Binding:46, ADMET:2, Functional:1 |
| CD36 | 6 | Binding:5, Functional:1 |
| FCGR2A | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| G6PD | 1.1.1.49 | glucose-6-phosphate dehydrogenase (NADP+) |
| NOS2 | 1.14.13.39 | nitric-oxide synthase (NADPH) |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| SCN8A | 173 |
| ICAM1 | 111 |
| NOS2 | 263 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 12; with CPIC/DPWG dosing guidelines: 1.
Cohort genes with a CPIC/DPWG dosing guideline
| Symbol | CPIC guidelines |
|---|---|
| G6PD | 1 |
Chemical tractability of cohort targets
30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| IMIPRAMINE | 4 | SCN8A |
| SERTINDOLE | 4 | SCN8A |
| PIMOZIDE | 4 | SCN8A |
| NIFEDIPINE | 4 | SCN8A |
| DILTIAZEM | 4 | SCN8A |
| MIBEFRADIL | 4 | SCN8A |
| HALOPERIDOL | 4 | SCN8A |
| MEXILETINE | 4 | SCN8A |
| AMITRIPTYLINE | 4 | SCN8A |
| AMIODARONE | 4 | SCN8A |
| CHLORPROMAZINE | 4 | SCN8A |
| TETRACAINE | 4 | SCN8A |
| BREXANOLONE | 4 | G6PD |
| APOMORPHINE HYDROCHLORIDE | 4 | G6PD |
| PRASTERONE | 4 | G6PD |
| CANDESARTAN CILEXETIL | 4 | HBB |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | HBB |
| PHENAZOPYRIDINE HYDROCHLORIDE | 4 | HBB |
| MERCAPTOPURINE ANHYDROUS | 4 | HBB |
| AZACITIDINE | 4 | HBB |
| AZATHIOPRINE | 4 | HBB |
| TOPOTECAN HYDROCHLORIDE | 4 | HBB |
| ACYCLOVIR | 4 | HBB |
| FLUOROURACIL | 4 | HBB |
| RAUWOLFIA SERPENTINA | 4 | HBB |
| HYDROQUINONE | 4 | HBB |
| MENADIONE | 4 | HBB |
| THIOTEPA | 4 | HBB |
| THIOGUANINE | 4 | HBB |
| RESERPINE | 4 | HBB |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 5 | SCN8A, G6PD, HBB, ICAM1, NOS2 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 2 | CR1, FCGR2A |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 5 | SLC4A1, CD36, TIRAP, CISH, NANOS2 |
Undrugged target profiles
7 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| SLC4A1 | 0 | — |
| CD36 | 6 | — |
| TIRAP | 0 | — |
| CISH | 0 | — |
| NANOS2 | 0 | — |
| CR1 | 0 | — |
| FCGR2A | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.