Protein Dossier — FGF8 (Fibroblast growth factor 8)
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 |
| Sleep duration |
-0.0263 |
0.00957 |
0.00601 |
Wald ratio |
1 |
trans |
NA |
| Eye problems or disorders: Glaucoma |
-0.407 |
0.159 |
0.0105 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.631 |
0.302 |
0.0366 |
Wald ratio |
1 |
trans |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.17 |
0.0822 |
0.0384 |
Wald ratio |
1 |
trans |
NA |
| Happiness |
0.031 |
0.0152 |
0.0417 |
Wald ratio |
1 |
trans |
NA |
| Fracture resulting from simple fall |
0.0603 |
0.0305 |
0.0484 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: J33 Nasal polyp |
0.261 |
0.14 |
0.0626 |
Wald ratio |
1 |
trans |
NA |
| Femoral neck bone mineral density |
0.119 |
0.0658 |
0.0699 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest |
-0.111 |
0.0614 |
0.0711 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
0.234 |
0.13 |
0.0723 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level |
0.628 |
0.36 |
0.0813 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0372 |
0.0217 |
0.0868 |
Wald ratio |
1 |
trans |
NA |
| …and 52 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2443_10_4 |
FGF-8B |
Suhre K |
2019 |
prot-c-4394_71_2 |
FGF-8A |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
27 association rows across 22 traits (27 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 |
| KAZALD1 protein levels |
3e-114 |
rs3218239 |
2 |
GCST90469665 |
no MR -> candidate analysis |
| Highest math class taken (MTAG) |
6e-28 |
rs749694 |
1 |
GCST006568 |
no MR -> candidate analysis |
| Cerebellar grey matter morphology (MOSTest) |
3e-18 |
rs61874089 |
1 |
GCST90728589 |
no MR -> candidate analysis |
| Educational attainment (years of education) |
4e-18 |
rs2735421 |
1 |
GCST007037 |
no MR -> candidate analysis |
| Intelligence (MTAG) |
1e-17 |
rs7077446 |
2 |
GCST005316 |
no MR -> candidate analysis |
| Self-reported math ability (MTAG) |
2e-16 |
rs749694 |
1 |
GCST006569 |
no MR -> candidate analysis |
| Household income (MTAG) |
2e-14 |
rs7077446 |
1 |
GCST009524 |
no MR -> candidate analysis |
| Attention deficit hyperactivity disorder or autism spectrum |
7e-14 |
rs749694 |
2 |
GCST90134330 |
no MR -> candidate analysis |
| Intelligence |
2e-13 |
rs749694 |
2 |
GCST006250 |
no MR -> candidate analysis |
| Income (MTAG) |
8e-12 |
rs2735421 |
1 |
GCST90565742 |
no MR -> candidate analysis |
| Fluid intelligence |
8e-12 |
rs749694 |
2 |
GCST90832687 |
no MR -> candidate analysis |
| Highest math class taken |
7e-11 |
rs2735421 |
1 |
GCST006574 |
no MR -> candidate analysis |
| …and 10 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 400 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 |
| hypogonadotropic hypogonadism 6 with or without anosmia |
0.896 |
— |
established (curated) |
no MR -> candidate analysis |
| hypogonadotropic hypogonadism |
0.525 |
— |
established (curated) |
no MR -> candidate analysis |
| Kallmann syndrome |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| holoprosencephaly |
0.8 |
— |
established (curated) |
no MR -> candidate analysis |
| semilobar holoprosencephaly |
0.593 |
— |
established (curated) |
no MR -> candidate analysis |
| septopreoptic holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| alobar holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| lobar holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| microform holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| midline interhemispheric variant of holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| male infertility with azoospermia or oligozoospermia due to single gene mutation |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.312 |
— |
established (curated) |
no MR -> candidate analysis |
| mathematical ability |
0.286 |
— |
common-variant locus |
no MR -> candidate analysis |
| Peters plus syndrome |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| microcephaly |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 15 rows above, 15 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=0.37, LOEUF=0.654 — LoF-tolerant |
| GWAS Catalog |
42 unique SNPs / 84 rows |
| ClinVar |
162 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 400 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 ‘FGF8’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 162 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 22 traits by best p-value, aggregated from 27 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/P55075 — 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/ENSG00000107831/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/FGF8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FGF8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FGF8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FGF8 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:40:21 · 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