Protein Dossier — CD300C (CMRF35-like molecule 6)
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 |
| Coronary heart disease |
-0.0838 |
0.0199 |
2.44e-05 |
Inverse variance weighted |
2 |
cis |
NA |
| Coronary heart disease |
-0.0838 |
0.0199 |
2.44e-05 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0321 |
0.00785 |
4.43e-05 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0321 |
0.00785 |
4.43e-05 |
Inverse variance weighted |
2 |
trans |
NA |
| Myocardial infarction |
-0.0861 |
0.0227 |
1.53e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| Myocardial infarction |
-0.0861 |
0.0227 |
1.53e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Age at menopause |
0.16 |
0.0599 |
0.00766 |
Wald ratio |
1 |
trans |
NA |
| Body fat |
-0.0315 |
0.0126 |
0.0121 |
Wald ratio |
1 |
trans |
NA |
| HOMA-B |
0.0184 |
0.00778 |
0.0183 |
Wald ratio |
1 |
trans |
NA |
| HOMA-IR |
0.022 |
0.00938 |
0.0193 |
Wald ratio |
1 |
trans |
NA |
| Diastolic blood pressure automated reading |
0.0113 |
0.00487 |
0.0201 |
Inverse variance weighted |
2 |
cis |
NA |
| Diastolic blood pressure automated reading |
0.0113 |
0.00487 |
0.0201 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 156 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5066_134_3 |
CLM6 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
8 association rows across 8 traits (5 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 |
| Cerebrospinal fluid protein CD300C levels |
3e-253 |
rs2293188 |
1 |
GCST90944162 |
no MR -> candidate analysis |
| Circulating CD300C levels |
9e-102 |
rs924828 |
1 |
GCST90859659 |
no MR -> candidate analysis |
| CD300E protein levels |
6e-20 |
rs56095552 |
1 |
GCST90468621 |
no MR -> candidate analysis |
| CMRF35-like molecule 6 levels |
2e-17 |
rs73359962 |
1 |
GCST90059929 |
no MR -> candidate analysis |
| CD300C protein levels |
1e-14 |
rs144088488 |
1 |
GCST90468620 |
no MR -> candidate analysis |
| Velopharyngeal dysfunction |
2e-6 |
rs931791 |
1 |
GCST006280 |
no MR -> candidate analysis |
| Baseline memory in impaired cognition x sex interaction |
5e-6 |
rs113310167 |
1 |
GCST90448440 |
no MR -> candidate analysis |
| Parkinson’s disease motor subtype (tremor to postural instab |
9e-6 |
rs118076379 |
1 |
GCST90000015 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 82 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 |
| diabetes mellitus |
0.207 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.0066, LOEUF=0.989 — LoF-tolerant |
| GWAS Catalog |
81 unique SNPs / 162 rows |
| ClinVar |
77 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 82 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.
chembl — No ChEMBL target for ‘CD300C’.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 77 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 8 of 8 traits by best p-value, aggregated from 8 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/Q08708 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000167850/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/CD300C — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/CD300C — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CD300C%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/CD300C — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:41:47 · 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