Protein Dossier — CKM (Creatine kinase M-type)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Forearm bone mineral density |
-0.278 |
0.0902 |
0.00208 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
-0.142 |
0.0485 |
0.00345 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.235 |
0.0813 |
0.00394 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Cataract |
-0.244 |
0.0883 |
0.00562 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
0.0429 |
0.0185 |
0.0208 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.673 |
0.295 |
0.0223 |
Wald ratio |
1 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.103 |
0.0463 |
0.0254 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia |
0.179 |
0.0847 |
0.0346 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
0.0235 |
0.012 |
0.05 |
Wald ratio |
1 |
cis |
NA |
| High grade serous ovarian cancer |
0.177 |
0.0919 |
0.0541 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
-0.263 |
0.139 |
0.0587 |
Wald ratio |
1 |
cis |
NA |
| Ovarian cancer |
0.142 |
0.0759 |
0.062 |
Wald ratio |
1 |
cis |
NA |
| …and 64 more outcomes (see JSON) |
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2670_67_4 |
CK-MM |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
54 association rows across 39 traits (53 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Creatine kinase levels |
1e-219 |
rs11559024 |
5 |
GCST90838680 |
no MR -> candidate analysis |
| total creatine kinase (mean, inv-norm transformed) |
5e-216 |
rs11559024 |
2 |
GCST90476413 |
no MR -> candidate analysis |
| total creatine kinase (minimum, inv-norm transformed) |
5e-202 |
rs11559024 |
2 |
GCST90476416 |
no MR -> candidate analysis |
| total creatine kinase (maximum, inv-norm transformed) |
4e-187 |
rs11559024 |
2 |
GCST90476410 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
2e-73 |
rs344818 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Creatine kinase M-type:Creatine kinase B-type heterodimer le |
4e-53 |
rs11559024 |
1 |
GCST90247040 |
no MR -> candidate analysis |
| CD84/SEMA4D protein level ratio |
3e-30 |
rs7260463 |
1 |
GCST90313917 |
no MR -> candidate analysis |
| Alzheimer’s disease polygenic risk score (upper quantile vs |
9e-27 |
rs123187 |
2 |
GCST90132260 |
no MR -> candidate analysis |
| Creatine kinase levels in off-statin users |
1e-23 |
rs11559024 |
1 |
GCST010067 |
no MR -> candidate analysis |
| Triglyceride percentage of total lipids in intermediate-dens |
2e-19 |
rs17875609 |
1 |
GCST90454489 |
no MR -> candidate analysis |
| Creatine kinase levels in statin users |
5e-18 |
rs11559024 |
2 |
GCST010068 |
no MR -> candidate analysis |
| Creatine kinase M-type levels (CKM.2670.67.4) |
9e-16 |
rs11559024 |
1 |
GCST90240800 |
no MR -> candidate analysis |
| …and 27 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 356 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| response to statin |
0.571 |
— |
common-variant locus |
no MR -> candidate analysis |
| intelligence |
0.377 |
— |
common-variant locus |
no MR -> candidate analysis |
| gastric ulcer |
0.33 |
— |
common-variant locus |
no MR -> candidate analysis |
| malunion fracture |
0.33 |
— |
common-variant locus |
no MR -> candidate analysis |
| tuberculosis |
0.254 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abdominal pain |
0.14 |
— |
common-variant locus |
no MR -> candidate analysis |
| Limb pain |
0.14 |
— |
common-variant locus |
no MR -> candidate analysis |
| Headache |
0.14 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to stimulus |
0.135 |
— |
common-variant locus |
no MR -> candidate analysis |
| adverse effect |
0.135 |
— |
common-variant locus |
no MR -> candidate analysis |
| poisoning |
0.135 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 11 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Creatine kinase M-type) |
| gnomAD constraint |
pLI=2.6e-08, LOEUF=1.08 — LoF-tolerant |
| GWAS Catalog |
113 unique SNPs / 282 rows |
| ClinVar |
88 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 356 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CKM’ and resolved to ‘Creatine kinase M-type’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 88 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 39 traits by best p-value, aggregated from 54 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P06732 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000104879/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2656/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CKM — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CKM — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CKM%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CKM — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:52:06 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none