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: R04 Haemorrhage from respiratory passages | -0.18 | 0.0771 | 0.0199 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus | -0.098 | 0.0449 | 0.0291 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R35 Polyuria | -0.196 | 0.0906 | 0.0301 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | 0.0855 | 0.04 | 0.0327 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.0741 | 0.0358 | 0.0383 | Wald ratio | 1 | cis | NA |
| Birth weight | -0.0142 | 0.00717 | 0.0471 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Diabetes related eye disease | 0.104 | 0.0536 | 0.0531 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone | -0.112 | 0.0584 | 0.0544 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Cataract | -0.0475 | 0.0265 | 0.0734 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.0375 | 0.0213 | 0.0775 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: retinal detachment | -0.167 | 0.0959 | 0.0811 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0372 | 0.0214 | 0.0824 | Wald ratio | 1 | cis | NA |
| …and 63 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
16 association rows across 13 traits (11 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 |
|---|---|---|---|---|---|
| Fumarylacetoacetase levels | 1e-373 | rs11555096 | 3 | GCST90247541 | no MR -> candidate analysis |
| Serum levels of protein FAH | 4e-246 | rs11555096 | 1 | GCST90086736 | no MR -> candidate analysis |
| Fumarylacetoacetase levels (FAH.11424.4.3) | 2e-121 | rs11555096 | 1 | GCST90241211 | no MR -> candidate analysis |
| Blood protein levels | 4e-75 | rs11555096 | 1 | GCST006585 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 1e-11 | rs28561542 | 1 | GCST90468087 | no MR -> candidate analysis |
| Mean platelet volume | 1e-10 | rs28561542 | 1 | GCST90002346 | no MR -> candidate analysis |
| Protein quantitative trait loci (liver) | 4e-9 | rs868712158 | 2 | GCST011427 | no MR -> candidate analysis |
| Dimethylglycine levels | 4e-9 | rs2043692 | 1 | GCST90105033 | no MR -> candidate analysis |
| Height | 7e-8 | rs7164048 | 1 | GCST90245848 | no MR -> candidate analysis |
| Palmitoyl dihydrosphingomyelin (d18:0/16:0) levels in elite | 2e-6 | rs8043254 | 1 | GCST90134044 | no MR -> candidate analysis |
| Schizophrenia | 2e-6 | rs34140486 | 1 | GCST90128471 | MR: beta=-0.0161, p=0.417 (cis) |
| Ischemic stroke | 6e-6 | rs116120594 | 1 | GCST90482715 | no MR -> candidate analysis |
| …and 1 more traits (see JSON) |
Top diseases by Open Targets association (of 1300 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 |
|---|---|---|---|---|
| tyrosinemia type I | 0.964 | — | established (curated) | no MR -> candidate analysis |
| Tyrosinemia type 1 | 0.897 | — | established (curated) | no MR -> candidate analysis |
| tyrosinemia | 0.699 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.772 | — | established (curated) | no MR -> candidate analysis |
| tyrosinemia type II | 0.559 | — | established (curated) | no MR -> candidate analysis |
| T-substance anomaly | 0.559 | — | established (curated) | no MR -> candidate analysis |
| beta-mannosidosis | 0.438 | — | established (curated) | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.251 | — | common-variant locus | no MR -> candidate analysis |
| hepatoblastoma | 0.182 | — | established (curated) | no MR -> candidate analysis |
| amino acid metabolism disease | 0.152 | 0.152 | exploratory rare-variant signal | no MR -> candidate analysis |
| personality disorder | 0.152 | 0.152 | exploratory rare-variant signal | no MR -> candidate analysis |
Of the 11 rows above, 11 have no MR estimate in this resource. Across all retrieved diseases for this gene: 2 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 (Fumarylacetoacetase) |
| gnomAD constraint | pLI=4.7e-14, LOEUF=1.07 — LoF-tolerant |
| GWAS Catalog | 30 unique SNPs / 60 rows |
| ClinVar | 940 records; 15 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1300 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 ‘FAH’ and resolved to ‘Fumarylacetoacetase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 940 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 13 of 13 traits by best p-value, aggregated from 16 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/P16930 — 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/ENSG00000103876/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6066391/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/FAH — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FAH — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FAH%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FAH — GWAS Catalog search API (live; release not exposed)