hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
diseaseOn this page
Also known as asprin-like platelet disorderFamilial Platelet Disorder with Associated Myeloid Malignancyfamilial platelet syndrome with predisposition to acute myelogenous leukaemiafamilial platelet syndrome with predisposition to acute myelogenous leukemiafamilial thrombocytopenia with propensity to acute myelogenous leukaemiafamilial thrombocytopenia with propensity to acute myelogenous leukemiaFPD/AML syndromeFPDMMFPS/AML syndromeplatelet disorder, aspirin-likeplatelet disorder, familial, with associated myeloid malignancythrombocytopenia, familial, with propensity to acute myelogenous leukaemiathrombocytopenia, familial, with propensity to acute myelogenous leukemia
Summary
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 (MONDO:0100083) is a cancer caused by RUNX1 (GenCC Definitive), with 7 cohort genes (1 CIViC-evidence somatic driver; 1,433 ClinVar predisposition records) and 1 clinical trial.
At a glance
- Classification: Cancer
- Causal gene: RUNX1 (GenCC Definitive)
- Cohort genes: 7
- ClinVar variants: 1,433
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 |
| Mondo ID | MONDO:0100083 |
| OMIM | 601399 |
| NCIT | C151903 |
| UMLS | C1832388 |
| MedGen | 321945 |
| GARD | 0015329 |
| NORD | 1943 |
| Is cancer (heuristic) | yes |
Also known as: asprin-like platelet disorder · Familial Platelet Disorder with Associated Myeloid Malignancy · familial platelet disorder with associated myeloid malignancy · familial platelet syndrome with predisposition to acute myelogenous leukaemia · familial platelet syndrome with predisposition to acute myelogenous leukemia · familial thrombocytopenia with propensity to acute myelogenous leukaemia · familial thrombocytopenia with propensity to acute myelogenous leukemia · FPD/AML syndrome · FPDMM · FPS/AML syndrome · hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 · platelet disorder, aspirin-like · platelet disorder, familial, with associated myeloid malignancy · thrombocytopenia, familial, with propensity to acute myelogenous leukaemia · thrombocytopenia, familial, with propensity to acute myelogenous leukemia
Data availability: 1,433 ClinVar variants · 51 ClinGen variant curations · 5 GenCC gene-disease records · 1 cell line.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › hereditary thrombocytopenia and hematologic cancer predisposition syndrome › hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Related subtypes (1): thrombocytopenia 5
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
600 retrieved; paginated sample, class counts are floors:
334 uncertain significance, 193 likely benign, 43 pathogenic, 26 likely pathogenic, 4 benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1072405 | NC_000021.8:g.35742772-?_36421202+?del | KCNE2 | Pathogenic | criteria provided, single submitter |
| 1067688 | NC_000021.8:g.(?36231761)(36231885_?)del | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1068986 | NM_001754.5(RUNX1):c.713_726del (p.Val238fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1069299 | NM_001754.5(RUNX1):c.140_150del (p.Leu47fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1069843 | NC_000021.8:g.(?36164426)(36421202_?)del | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1069844 | NC_000021.8:g.(?36421133)(36421202_?)del | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1071785 | NM_001754.5(RUNX1):c.777dup (p.Asn260Ter) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1073884 | NM_001754.5(RUNX1):c.601dup (p.Arg201fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1073907 | NM_001754.5(RUNX1):c.247dup (p.Ala83fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1074352 | NM_001754.5(RUNX1):c.664dup (p.Ser222fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1074523 | NM_001754.5(RUNX1):c.528_531dup (p.Thr178fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1075910 | NC_000021.8:g.(?36164426)(36171765_?)del | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1076589 | NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1194557 | NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1333011 | Single allele | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1363605 | NM_001754.5(RUNX1):c.503del (p.Gly168fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1438546 | NM_001754.5(RUNX1):c.585del (p.Thr196fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 14463 | NM_001754.4(RUNX1):c.352-1G>T | RUNX1 | Pathogenic | reviewed by expert panel |
| 14465 | NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu) | RUNX1 | Pathogenic | reviewed by expert panel |
| 14466 | NM_001754.5(RUNX1):c.508+3del | RUNX1 | Pathogenic | reviewed by expert panel |
| 14467 | NM_001754.5(RUNX1):c.861C>A (p.Tyr287Ter) | RUNX1 | Pathogenic | reviewed by expert panel |
| 14468 | NM_001754.5(RUNX1):c.400G>C (p.Ala134Pro) | RUNX1 | Pathogenic | reviewed by expert panel |
| 14470 | NM_001754.5(RUNX1):c.442_449del (p.Thr148fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1457966 | NC_000021.8:g.(?36182049)(36231885_?)del | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1459069 | NM_001754.5(RUNX1):c.496C>T (p.Arg166Ter) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1459404 | NC_000021.8:g.(?36231761)(36253020_?)del | RUNX1 | Pathogenic | criteria provided, single submitter |
| 1460018 | NM_001754.5(RUNX1):c.637del (p.Gln213fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1684407 | NM_001754.5(RUNX1):c.802C>T (p.Gln268Ter) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1684431 | NM_001754.5(RUNX1):c.566_584dup (p.Thr196fs) | RUNX1 | Pathogenic | reviewed by expert panel |
| 1691247 | NM_001754.5(RUNX1):c.735del (p.Thr246fs) | RUNX1 | Pathogenic | reviewed by expert panel |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 8 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| RUNX1 | LoF | ACYC,ALL,AML,BRCA,GBM | CIViC #43 |
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| RUNX1 | Definitive | Autosomal dominant | hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 8 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| RUNX1 | Orphanet:102724 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation |
| RUNX1 | Orphanet:521 | Chronic myeloid leukemia |
| RUNX1 | Orphanet:71290 | Familial platelet disorder with associated myeloid malignancy |
| RUNX1 | Orphanet:98850 | Aggressive systemic mastocytosis |
| KCNE2 | Orphanet:101016 | Romano-Ward syndrome |
| KCNE2 | Orphanet:334 | Hereditary atrial fibrillation |
Cohort genes → proteins
7 cohort genes, 5 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 7 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RUNX1 | HGNC:10471 | ENSG00000159216 | Q01196 | Runt-related transcription factor 1 | gencc,clinvar |
| CBR1 | HGNC:1548 | ENSG00000159228 | P16152 | Carbonyl reductase [NADPH] 1 | clinvar |
| CLIC6 | HGNC:2065 | ENSG00000159212 | Q96NY7 | Chloride intracellular channel protein 6 | clinvar |
| CBR1-AS1 | HGNC:55777 | ENSG00000230212 | CBR1 antisense RNA 1 | clinvar | |
| RUNX1-AS1 | HGNC:56821 | ENSG00000286153 | RUNX1 antisense RNA 1 | clinvar | |
| KCNE2 | HGNC:6242 | ENSG00000159197 | Q9Y6J6 | Potassium voltage-gated channel subfamily E member 2 | clinvar |
| ATP5PO | HGNC:850 | ENSG00000241837 | P48047 | ATP synthase peripheral stalk subunit OSCP, mitochondrial | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RUNX1 | Runt-related transcription factor 1 | Forms the heterodimeric complex core-binding factor (CBF) with CBFB. |
| CBR1 | Carbonyl reductase [NADPH] 1 | NADPH-dependent reductase with broad substrate specificity. |
| CLIC6 | Chloride intracellular channel protein 6 | In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. |
| KCNE2 | Potassium voltage-gated channel subfamily E member 2 | Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. |
| ATP5PO | ATP synthase peripheral stalk subunit OSCP, mitochondrial | Subunit OSCP, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of… |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 4 · Druggable fraction: 0.29
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 |
|---|---|---|---|
| Ion channel | 1 | 15.9× | 0.244 |
| Enzyme (other) | 1 | 1.7× | 0.626 |
| Transcription factor | 1 | 1.2× | 0.626 |
| Other/Unknown | 4 | 1.0× | 0.626 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RUNX1 | Transcription factor | no | AML1_Runt, p53-like_TF_DNA-bd_sf, p53/RUNT-type_TF_DNA-bd_sf | |
| CBR1 | Enzyme (other) | yes | 1.1.1.184 | SDR_fam, Sc_DH/Rdtase_CS, NAD(P)-bd_dom_sf |
| CLIC6 | Other/Unknown | no | CLIC, Glutathione-S-Trfase_C-like, Thioredoxin-like_sf | |
| CBR1-AS1 | Other/Unknown | no | ||
| RUNX1-AS1 | Other/Unknown | no | ||
| KCNE2 | Ion channel | yes | K_chnl_KCNE, K_chnl_volt-dep_bsu_KCNE2 | |
| ATP5PO | Other/Unknown | no | ATPase_OSCP/dsu, ATPase_OSCP/d_CS, ATP_synth_OSCP/delta_N_sf |
Expression context
Cohort genes with no expression data: 0.
6 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) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| sural nerve | 2 |
| epithelium of bronchus | 1 |
| mucosa of paranasal sinus | 1 |
| olfactory segment of nasal mucosa | 1 |
| C1 segment of cervical spinal cord | 1 |
| duodenum | 1 |
| jejunal mucosa | 1 |
| bronchial epithelial cell | 1 |
| bronchus | 1 |
| pigmented layer of retina | 1 |
| calcaneal tendon | 1 |
| bone marrow cell | 1 |
| body of stomach | 1 |
| cardia of stomach | 1 |
| pylorus | 1 |
| apex of heart | 1 |
| heart left ventricle | 1 |
| right atrium auricular region | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RUNX1 | 253 | ubiquitous | marker | olfactory segment of nasal mucosa, epithelium of bronchus, mucosa of paranasal sinus |
| CBR1 | 281 | ubiquitous | marker | jejunal mucosa, duodenum, C1 segment of cervical spinal cord |
| CLIC6 | 189 | broad | marker | pigmented layer of retina, bronchial epithelial cell, bronchus |
| CBR1-AS1 | 126 | marker | male germ line stem cell (sensu Vertebrata) in testis, sural nerve, calcaneal tendon | |
| RUNX1-AS1 | 114 | marker | male germ line stem cell (sensu Vertebrata) in testis, bone marrow cell, sural nerve | |
| KCNE2 | 161 | tissue_specific | yes | body of stomach, pylorus, cardia of stomach |
| ATP5PO | 149 | ubiquitous | marker | heart left ventricle, apex of heart, right atrium auricular region |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| RUNX1 | 4,994 |
| CBR1 | 3,942 |
| ATP5PO | 3,811 |
| CLIC6 | 1,246 |
| KCNE2 | 749 |
| CBR1-AS1 | 0 |
| RUNX1-AS1 | 0 |
Structural data
PDB: 4 · AlphaFold-only: 1 · No structure: 2
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ATP5PO | P48047 | 9 |
| CBR1 | P16152 | 6 |
| RUNX1 | Q01196 | 5 |
| KCNE2 | Q9Y6J6 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| CLIC6 | Q96NY7 | 60.24 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 59. Enrichment computed across 7 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| RUNX3 regulates RUNX1-mediated transcription | 1 | 951.7× | 0.017 | RUNX1 |
| RUNX1 regulates expression of components of tight junctions | 1 | 571.0× | 0.017 | RUNX1 |
| RUNX1 regulates transcription of genes involved in interleukin signaling | 1 | 571.0× | 0.017 | RUNX1 |
| RUNX2 regulates genes involved in differentiation of myeloid cells | 1 | 571.0× | 0.017 | RUNX1 |
| RUNX1 regulates estrogen receptor mediated transcription | 1 | 475.8× | 0.017 | RUNX1 |
| RUNX1 regulates transcription of genes involved in BCR signaling | 1 | 475.8× | 0.017 | RUNX1 |
| RUNX1 regulates transcription of genes involved in WNT signaling | 1 | 475.8× | 0.017 | RUNX1 |
| RUNX1 regulates transcription of genes involved in differentiation of myeloid cells | 1 | 356.9× | 0.017 | RUNX1 |
| Phase 3 - rapid repolarisation | 1 | 285.5× | 0.017 | KCNE2 |
| RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) | 1 | 285.5× | 0.017 | RUNX1 |
| RUNX1 regulates transcription of genes involved in differentiation of keratinocytes | 1 | 285.5× | 0.017 | RUNX1 |
| RUNX3 regulates p14-ARF | 1 | 285.5× | 0.017 | RUNX1 |
| Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells) | 1 | 219.6× | 0.018 | RUNX1 |
| Synthesis of Prostaglandins (PG) and Thromboxanes (TX) | 1 | 190.3× | 0.018 | CBR1 |
| SLC-mediated transport of organic cations | 1 | 190.3× | 0.018 | RUNX1 |
| R-HSA-549132 | 1 | 190.3× | 0.018 | RUNX1 |
| Phase 2 - plateau phase | 1 | 190.3× | 0.018 | KCNE2 |
| Regulation of RUNX1 Expression and Activity | 1 | 167.9× | 0.019 | RUNX1 |
| Formation of ATP by chemiosmotic coupling | 1 | 142.8× | 0.021 | ATP5PO |
| Arachidonate metabolism | 1 | 142.8× | 0.021 | CBR1 |
| Pre-NOTCH Expression and Processing | 1 | 92.1× | 0.030 | RUNX1 |
| Cristae formation | 1 | 86.5× | 0.031 | ATP5PO |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 1 | 75.1× | 0.034 | RUNX1 |
| Transcriptional regulation by RUNX3 | 1 | 68.0× | 0.035 | RUNX1 |
| SARS-CoV-1 activates/modulates innate immune responses | 1 | 68.0× | 0.035 | RUNX1 |
| Transcriptional regulation by RUNX2 | 1 | 63.4× | 0.036 | RUNX1 |
| R-HSA-425366 | 1 | 45.3× | 0.046 | RUNX1 |
| Signaling by NOTCH | 1 | 43.9× | 0.046 | RUNX1 |
| SARS-CoV-1-host interactions | 1 | 43.9× | 0.046 | RUNX1 |
| Mitochondrial biogenesis | 1 | 42.0× | 0.046 | ATP5PO |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| regulation of connective tissue replacement | 1 | 4213.0× | 0.007 | RUNX1 |
| myeloid leukocyte differentiation | 1 | 1404.3× | 0.007 | RUNX1 |
| regulation of plasminogen activation | 1 | 1404.3× | 0.007 | RUNX1 |
| negative regulation of CD4-positive, alpha-beta T cell differentiation | 1 | 1053.2× | 0.007 | RUNX1 |
| cardiac muscle tissue regeneration | 1 | 1053.2× | 0.007 | RUNX1 |
| positive regulation of extracellular matrix organization | 1 | 1053.2× | 0.007 | RUNX1 |
| positive regulation of CD8-positive, alpha-beta T cell differentiation | 1 | 842.6× | 0.007 | RUNX1 |
| regulation of cardiac muscle cell proliferation | 1 | 842.6× | 0.007 | RUNX1 |
| glucocorticoid metabolic process | 1 | 702.2× | 0.007 | CBR1 |
| positive regulation of granulocyte differentiation | 1 | 702.2× | 0.007 | RUNX1 |
| negative regulation of delayed rectifier potassium channel activity | 1 | 702.2× | 0.007 | KCNE2 |
| prostanoid biosynthetic process | 1 | 601.9× | 0.007 | CBR1 |
| negative regulation of granulocyte differentiation | 1 | 526.6× | 0.007 | RUNX1 |
| vitamin K metabolic process | 1 | 526.6× | 0.007 | CBR1 |
| membrane repolarization during action potential | 1 | 421.3× | 0.008 | KCNE2 |
| membrane repolarization during ventricular cardiac muscle cell action potential | 1 | 421.3× | 0.008 | KCNE2 |
| peripheral nervous system neuron development | 1 | 383.0× | 0.008 | RUNX1 |
| regulation of membrane repolarization | 1 | 324.1× | 0.008 | KCNE2 |
| membrane repolarization | 1 | 324.1× | 0.008 | KCNE2 |
| potassium ion export across plasma membrane | 1 | 263.3× | 0.009 | KCNE2 |
| ATP biosynthetic process | 1 | 247.8× | 0.009 | ATP5PO |
| ventricular cardiac muscle cell action potential | 1 | 247.8× | 0.009 | KCNE2 |
| positive regulation of proteasomal protein catabolic process | 1 | 247.8× | 0.009 | KCNE2 |
| regulation of ventricular cardiac muscle cell membrane repolarization | 1 | 210.7× | 0.010 | KCNE2 |
| proton motive force-driven ATP synthesis | 1 | 200.6× | 0.010 | ATP5PO |
| cardiac muscle cell action potential involved in contraction | 1 | 175.5× | 0.011 | KCNE2 |
| myeloid cell differentiation | 1 | 162.0× | 0.011 | RUNX1 |
| positive regulation of collagen biosynthetic process | 1 | 162.0× | 0.011 | RUNX1 |
| hematopoietic stem cell proliferation | 1 | 162.0× | 0.011 | RUNX1 |
| regulation of potassium ion transmembrane transport | 1 | 156.0× | 0.011 | KCNE2 |
Therapeutics
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 5
Druggability breadth: 3 of 7 evidence-associated genes (43%) 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 |
|---|---|
| RUNX1 | APOMORPHINE HYDROCHLORIDE |
| CBR1 | TRICLOSAN |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| RUNX1 | 2 | 4 |
| CBR1 | 1 | 4 |
| CLIC6 | 0 | 0 |
| CBR1-AS1 | 0 | 0 |
| RUNX1-AS1 | 0 | 0 |
| KCNE2 | 0 | 0 |
| ATP5PO | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| APOMORPHINE HYDROCHLORIDE | 4 | RUNX1 |
| TRICLOSAN | 4 | CBR1 |
| MOLIBRESIB | 2 | RUNX1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CBR1 | 35 | Binding:28, ADMET:7 |
| RUNX1 | 20 | Binding:17, Functional:3 |
| ATP5PO | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| CBR1 | 1.1.1.184 | carbonyl reductase (NADPH) |
Pharmacogenomics
Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
3 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| APOMORPHINE HYDROCHLORIDE | 4 | RUNX1 |
| TRICLOSAN | 4 | CBR1 |
| MOLIBRESIB | 2 | RUNX1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | RUNX1, CBR1 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | KCNE2 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 4 | CLIC6, CBR1-AS1, RUNX1-AS1, ATP5PO |
Undrugged target profiles
5 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| CLIC6 | 0 | — |
| CBR1-AS1 | 0 | — |
| RUNX1-AS1 | 0 | — |
| KCNE2 | 0 | — |
| ATP5PO | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03854318 | Not specified | RECRUITING | Longitudinal Studies of Patient With FPDMM |