Protein Dossier — RGMA (Repulsive guidance molecule A)
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 |
| Height |
-0.0705 |
0.0132 |
9.64e-08 |
Wald ratio |
1 |
trans |
0.847 |
| Urate |
-0.0838 |
0.0243 |
5.51e-04 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.00365 |
0.00113 |
0.00119 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.00365 |
0.00113 |
0.00119 |
Inverse variance weighted |
2 |
trans |
NA |
| Triglycerides |
-0.0683 |
0.022 |
0.00194 |
Wald ratio |
1 |
trans |
NA |
| Weight |
-0.0212 |
0.00711 |
0.00287 |
Inverse variance weighted |
2 |
cis |
NA |
| Weight |
-0.0212 |
0.00711 |
0.00287 |
Inverse variance weighted |
2 |
trans |
NA |
| Mean cell haemoglobin |
0.128 |
0.045 |
0.00433 |
Wald ratio |
1 |
trans |
NA |
| Mean cell volume |
0.292 |
0.115 |
0.0108 |
Wald ratio |
1 |
trans |
NA |
| Mean cell haemoglobin concentration |
0.037 |
0.0154 |
0.0164 |
Wald ratio |
1 |
trans |
NA |
| Thalamus volume |
-50.1 |
22 |
0.0231 |
Inverse variance weighted |
2 |
cis |
NA |
| Thalamus volume |
-50.1 |
22 |
0.0231 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 171 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3833_10_2 |
RGMA |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
122 association rows across 71 traits (77 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 |
| Circulating RGMA levels |
1e-344 |
rs3752102 |
3 |
GCST90859669 |
no MR -> candidate analysis |
| RGMA protein levels |
5e-307 |
rs3752102 |
12 |
GCST90470463 |
no MR -> candidate analysis |
| RGMA/RGMB protein level ratio |
4e-299 |
rs4778090 |
1 |
GCST90315769 |
no MR -> candidate analysis |
| ART3/RGMA protein level ratio |
3e-56 |
rs35864810 |
1 |
GCST90313362 |
no MR -> candidate analysis |
| Repulsive guidance molecule A levels |
3e-54 |
rs4778091 |
6 |
GCST90249293 |
no MR -> candidate analysis |
| Height |
3e-51 |
rs4777828 |
11 |
GCST90245848 |
MR: beta=-0.0705, p=9.64e-08 (trans) |
| Hemojuvelin levels |
1e-34 |
rs4778091 |
1 |
GCST90247866 |
no MR -> candidate analysis |
| Type 2 diabetes |
1e-23 |
rs7167984 |
8 |
GCST90492734 |
MR: beta=0.0439, p=0.433 (trans) |
| Serum levels of protein RGMA |
2e-17 |
rs4778093 |
1 |
GCST90089056 |
no MR -> candidate analysis |
| Repulsive guidance molecule A levels (RGMA.5483.1.3) |
3e-16 |
rs3752102 |
1 |
GCST90242629 |
no MR -> candidate analysis |
| Heel bone mineral density |
7e-15 |
rs4299103 |
3 |
GCST007066 |
MR: beta=0.0188, p=0.0706 (cis) |
| Neurofibrillary tangles (SNP x SNP interaction) |
2e-14 |
rs17651511 x rs1947892 |
3 |
GCST010343 |
no MR -> candidate analysis |
| …and 59 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 167 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 |
0.658 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.655 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, hip |
0.654 |
— |
common-variant locus |
MR: beta=0.13, p=0.276 (trans) |
| placental abruption |
0.561 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.524 |
— |
common-variant locus |
no MR -> candidate analysis |
| medical procedure |
0.524 |
— |
common-variant locus |
no MR -> candidate analysis |
| pregnancy disorder |
0.519 |
— |
common-variant locus |
no MR -> candidate analysis |
| DNA methylation |
0.447 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian dysfunction |
0.424 |
— |
common-variant locus |
no MR -> candidate analysis |
| opiate dependence |
0.408 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of refraction |
0.409 |
— |
common-variant locus |
no MR -> candidate analysis |
| Parkinson disease |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| sign or symptom |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 14 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 |
2 known modulators (Repulsive guidance molecule A) |
| gnomAD constraint |
pLI=0.2, LOEUF=0.732 — LoF-tolerant |
| GWAS Catalog |
125 unique SNPs / 212 rows |
| ClinVar |
141 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 167 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 ‘RGMA’ and resolved to ‘Repulsive guidance molecule A’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 141 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 71 traits by best p-value, aggregated from 122 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/Q96B86 — 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/ENSG00000182175/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4630886/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/RGMA — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RGMA — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RGMA%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RGMA — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:48:59 · 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