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: R14 Flatulence and related conditions | 0.832 | 0.265 | 0.00167 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M54 Dorsalgia | 0.25 | 0.082 | 0.00229 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | 0.181 | 0.0726 | 0.0124 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.165 | 0.0701 | 0.0183 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | -0.0409 | 0.0174 | 0.019 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: H25 Senile cataract | 0.26 | 0.12 | 0.0307 | Wald ratio | 1 | cis | NA |
| Potassium in urine | -0.0276 | 0.0137 | 0.043 | Wald ratio | 1 | cis | NA |
| Lung cancer | -0.183 | 0.0932 | 0.0498 | Wald ratio | 1 | cis | NA |
| Fracture resulting from simple fall | 0.0624 | 0.0332 | 0.0601 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: iron deficiency anaemia | 0.269 | 0.145 | 0.063 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.097 | 0.0552 | 0.0789 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | 0.0377 | 0.0224 | 0.0918 | Wald ratio | 1 | cis | NA |
| …and 48 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
44 association rows across 24 traits (38 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 |
|---|---|---|---|---|---|
| GFRAL protein levels | 2e-311 | rs10948914 | 7 | GCST90469331 | no MR -> candidate analysis |
| GDNF family receptor alpha-like levels | 5e-74 | rs60761034 | 3 | GCST90247722 | no MR -> candidate analysis |
| Heel bone mineral density | 2e-26 | rs1502199 | 6 | GCST006979 | MR: beta=-0.0409, p=0.019 (cis) |
| Body size at age 10 | 2e-23 | rs12110721 | 1 | GCST010989 | no MR -> candidate analysis |
| Estimated bone mineral density | 1e-19 | rs1502199 | 1 | GCST90726625 | no MR -> candidate analysis |
| Serum levels of protein GFRAL | 1e-18 | rs3846917 | 1 | GCST90089569 | no MR -> candidate analysis |
| Childhood body mass index | 4e-18 | rs12110721 | 2 | GCST90301649 | no MR -> candidate analysis |
| Morning person | 8e-16 | rs13203948 | 1 | GCST007565 | no MR -> candidate analysis |
| Morningness | 2e-15 | rs9396083 | 1 | GCST007983 | no MR -> candidate analysis |
| Blood protein levels | 2e-14 | rs1032772 | 1 | GCST006585 | no MR -> candidate analysis |
| Blood urea nitrogen levels | 2e-12 | rs143297173 | 1 | GCST005986 | no MR -> candidate analysis |
| Body mass index | 4e-11 | rs9370410 | 6 | GCST90446645 | MR: beta=-0.00972, p=0.47 (cis) |
| …and 12 more traits (see JSON) |
Top diseases by Open Targets association (of 137 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 |
|---|---|---|---|---|
| Abnormality of the skeletal system | 0.653 | — | common-variant locus | no MR -> candidate analysis |
| gout | 0.516 | — | common-variant locus | MR: beta=0.0769, p=0.467 (cis) |
| skull disorder | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| preeclampsia | 0.474 | — | common-variant locus | no MR -> candidate analysis |
| placental retention | 0.436 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.435 | — | common-variant locus | no MR -> candidate analysis |
| frozen shoulder | 0.434 | — | common-variant locus | no MR -> candidate analysis |
| polycystic ovary syndrome | 0.424 | — | common-variant locus | no MR -> candidate analysis |
| aneurysm | 0.099 | — | common-variant locus | no MR -> candidate analysis |
| circadian rhythm | 0.094 | — | common-variant locus | no MR -> candidate analysis |
| hyperuricemia | 0.076 | — | common-variant locus | no MR -> candidate analysis |
| dislocation | 0.071 | — | common-variant locus | no MR -> candidate analysis |
| vesicoureteral reflux | 0.07 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.067 | — | common-variant locus | no MR -> candidate analysis |
| muscular atrophy | 0.067 | — | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (GDNF family receptor alpha-like) |
| gnomAD constraint | pLI=2.1e-10, LOEUF=1.05 — LoF-tolerant |
| GWAS Catalog | 98 unique SNPs / 175 rows |
| ClinVar | 83 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 137 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 ‘GFRAL’ and resolved to ‘GDNF family receptor alpha-like’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 83 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 24 traits by best p-value, aggregated from 44 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/Q6UXV0 — 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/ENSG00000187871/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5465268/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GFRAL — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GFRAL — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GFRAL%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/GFRAL — GWAS Catalog search API (live; release not exposed)