MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level | 0.434 | 0.0999 | 1.40e-05 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | 0.0182 | 0.00623 | 0.00351 | Wald ratio | 1 | cis | NA |
| Fracture resulting from simple fall | -0.0428 | 0.0165 | 0.00965 | Wald ratio | 1 | cis | NA |
| Hip osteoarthritis | 0.164 | 0.07 | 0.0191 | Wald ratio | 1 | cis | NA |
| Packed cell volume | -0.1 | 0.0428 | 0.0193 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | 0.0815 | 0.0382 | 0.033 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.118 | 0.0565 | 0.0369 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin concentration | 0.0179 | 0.00864 | 0.0382 | Wald ratio | 1 | cis | NA |
| Birth length | -0.0485 | 0.0235 | 0.0395 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.072 | 0.0367 | 0.0497 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: small intestine or small bowel cancer | 0.396 | 0.203 | 0.0509 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: L03 Cellulitis | 0.118 | 0.0604 | 0.0513 | Wald ratio | 1 | cis | NA |
| …and 87 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
13 association rows across 7 traits (13 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 |
|---|---|---|---|---|---|
| Gamma-glutamyl hydrolase levels | 8e-261 | rs12676348 | 3 | GCST90247726 | no MR -> candidate analysis |
| GGH protein levels | 5e-226 | rs190945668 | 3 | GCST90469335 | no MR -> candidate analysis |
| Serum levels of protein GGH | 9e-112 | rs3758147 | 2 | GCST90090663 | no MR -> candidate analysis |
| Gamma-glutamyl hydrolase levels (GGH.9370.69.3) | 2e-42 | rs116323041 | 1 | GCST90241235 | no MR -> candidate analysis |
| Calcium levels | 1e-11 | rs111291669 | 2 | GCST90018951 | no MR -> candidate analysis |
| Alanine transaminase (ALT, minimum, inv-norm transformed) | 2e-11 | rs3780129 | 1 | GCST90479508 | no MR -> candidate analysis |
| Hemoglobin concentration | 2e-10 | rs3780129 | 1 | GCST90002314 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 176 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 |
|---|---|---|---|---|
| Limb pain | 0.368 | — | common-variant locus | no MR -> candidate analysis |
| Headache | 0.368 | — | common-variant locus | no MR -> candidate analysis |
| Abdominal pain | 0.368 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.097 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.097 | — | common-variant locus | no MR -> candidate analysis |
| exostosis | 0.097 | — | common-variant locus | no MR -> candidate analysis |
| glomerulonephritis | 0.094 | — | common-variant locus | no MR -> candidate analysis |
| dementia | 0.071 | — | common-variant locus | no MR -> candidate analysis |
| lung cancer | 0.037 | — | established (curated) | MR: beta=0.076, p=0.262 (cis) |
Of the 9 rows above, 8 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Gamma-glutamyl hydrolase) |
| gnomAD constraint | pLI=0.04, LOEUF=0.681 — LoF-tolerant |
| GWAS Catalog | 36 unique SNPs / 69 rows |
| ClinVar | 77 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 11 clinical annotations across 4 drugs |
phenome — Top 30 of 176 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 ‘GGH’ and resolved to ‘Gamma-glutamyl hydrolase’ — confirm this is the intended target.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.gwas_traits — Top 7 of 7 traits by best p-value, aggregated from 13 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q92820 — 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/ENSG00000137563/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2223/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GGH — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GGH — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GGH%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=GGH — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/GGH — GWAS Catalog search API (live; release not exposed)