Protein Dossier — GHR (Growth hormone receptor)
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 |
| Birth weight |
-0.0498 |
0.033 |
0.131 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0543 |
0.0386 |
0.16 |
Wald ratio |
1 |
cis |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0744 |
0.0699 |
0.287 |
Wald ratio |
1 |
cis |
NA |
| Low grade serous ovarian cancer |
0.238 |
0.294 |
0.418 |
Wald ratio |
1 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0313 |
0.0459 |
0.495 |
Wald ratio |
1 |
cis |
NA |
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2948_58_2 |
Growth hormone receptor |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
140 association rows across 60 traits (122 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 |
| Height |
1e-300 |
rs2910875 |
29 |
GCST90245848 |
no MR -> candidate analysis |
| GHR protein levels |
1e-298 |
rs55730643 |
16 |
GCST90469342 |
no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) |
2e-120 |
rs55681913 |
2 |
GCST90475359 |
no MR -> candidate analysis |
| IGF 1 (UKB data field 30770) |
3e-71 |
rs55681913 |
2 |
GCST90468078 |
no MR -> candidate analysis |
| What is your height? (cm, inv-normal transformed) |
4e-66 |
rs55681913 |
2 |
GCST90475368 |
no MR -> candidate analysis |
| Growth hormone receptor levels |
1e-65 |
rs10440652 |
4 |
GCST90247729 |
no MR -> candidate analysis |
| Standing height (UKB data field 50) |
2e-51 |
rs55681913 |
2 |
GCST90468178 |
no MR -> candidate analysis |
| SELENOP protein levels |
1e-45 |
rs4315928 |
1 |
GCST90470565 |
no MR -> candidate analysis |
| Height (baseline) |
9e-44 |
rs55681913 |
8 |
GCST90565843 |
no MR -> candidate analysis |
| Appendicular lean mass |
8e-40 |
rs62372052 |
2 |
GCST90000025 |
no MR -> candidate analysis |
| Whole body water mass (UKB data field 23102) |
5e-38 |
rs62372052 |
2 |
GCST90468184 |
no MR -> candidate analysis |
| Body shape phenotype PC2 |
2e-35 |
rs62372052 |
2 |
GCST90832990 |
no MR -> candidate analysis |
| …and 48 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1358 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 |
| Laron syndrome |
0.919 |
— |
established (curated) |
no MR -> candidate analysis |
| short stature due to partial GHR deficiency |
0.828 |
— |
established (curated) |
no MR -> candidate analysis |
| growth hormone insensitivity syndrome |
0.835 |
— |
established (curated) |
no MR -> candidate analysis |
| Short stature |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| hypercholesterolemia, familial, 1 |
0.81 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.81 |
— |
common-variant locus |
no MR -> candidate analysis |
| atrial fibrillation |
0.79 |
— |
common-variant locus |
no MR -> candidate analysis |
| obesity disorder |
0.546 |
— |
common-variant locus |
no MR -> candidate analysis |
| short stature due to GHSR deficiency |
0.525 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 9 rows above, 9 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 |
6 known modulators (Growth hormone receptor) |
| gnomAD constraint |
pLI=4e-05, LOEUF=0.692 — LoF-tolerant |
| GWAS Catalog |
102 unique SNPs / 208 rows |
| ClinVar |
681 records; 11 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1358 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 ‘GHR’ and resolved to ‘Growth hormone receptor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 681 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 60 traits by best p-value, aggregated from 140 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/P10912 — 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/ENSG00000112964/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1976/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GHR — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GHR — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GHR%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/GHR — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:49:02 · 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