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 |
|---|---|---|---|---|---|---|---|
| Fractured or broken bones in last 5 years | 0.155 | 0.0652 | 0.0172 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | 0.214 | 0.0957 | 0.0252 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: polio or poliomyelitis | 0.935 | 0.455 | 0.0399 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Arm | 0.359 | 0.177 | 0.0429 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | 0.311 | 0.155 | 0.0446 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.287 | 0.152 | 0.0594 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone | 0.369 | 0.199 | 0.0639 | Wald ratio | 1 | cis | NA |
| Clear cell ovarian cancer | -0.762 | 0.414 | 0.0658 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Other bones | 0.162 | 0.0907 | 0.0733 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.321 | 0.196 | 0.101 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.201 | 0.124 | 0.105 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | 0.0556 | 0.0359 | 0.121 | Wald ratio | 1 | cis | NA |
| …and 34 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
14 association rows across 10 traits (14 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 |
|---|---|---|---|---|---|
| Formimidoyltransferase-cyclodeaminase levels | 3e-56 | rs61735836 | 2 | GCST90247642 | no MR -> candidate analysis |
| FTCD protein levels | 3e-17 | rs59142618 | 2 | GCST90469274 | no MR -> candidate analysis |
| Creatinine levels | 9e-16 | rs61735836 | 2 | GCST90662902 | no MR -> candidate analysis |
| Collagen alpha-2(VI) chain levels | 5e-15 | rs55940244 | 1 | GCST90247090 | no MR -> candidate analysis |
| Formiminoglutamate levels | 4e-13 | rs398124234 | 1 | GCST90139463 | no MR -> candidate analysis |
| Waist circumference adjusted for body mass index | 8e-12 | rs725976 | 2 | GCST009867 | no MR -> candidate analysis |
| Serum levels of protein FTCD | 2e-11 | rs4819204 | 1 | GCST90090556 | no MR -> candidate analysis |
| Waist-to-hip ratio adjusted for BMI | 1e-9 | rs9974320 | 1 | GCST009858 | no MR -> candidate analysis |
| Mastocytosis | 1e-9 | rs61735841 | 1 | GCST011383 | no MR -> candidate analysis |
| Geographic atrophy lesion growth rate in age-related macular | 1e-8 | rs2839127 | 1 | GCST008356 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 109 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 |
|---|---|---|---|---|
| formiminoglutamic aciduria | 0.873 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.815 | — | established (curated) | no MR -> candidate analysis |
| mastocytosis | 0.584 | — | common-variant locus | no MR -> candidate analysis |
| Microscopic hematuria | 0.439 | — | common-variant locus | no MR -> candidate analysis |
| Intellectual disability | 0.228 | — | established (curated) | no MR -> candidate analysis |
| diverticular disease | 0.198 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, knee | 0.184 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.163 | — | common-variant locus | no MR -> candidate analysis |
| total joint arthroplasty | 0.085 | — | common-variant locus | no MR -> candidate analysis |
| total knee arthroplasty | 0.063 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis | 0.056 | — | common-variant locus | no MR -> candidate analysis |
Of the 11 rows above, 11 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=8.9e-31, LOEUF=1.46 — LoF-tolerant |
| GWAS Catalog | 59 unique SNPs / 118 rows |
| ClinVar | 559 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 109 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 ‘FTCD’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 559 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 10 of 10 traits by best p-value, aggregated from 14 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/O95954 — 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/ENSG00000160282/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/FTCD — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FTCD — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FTCD%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FTCD — GWAS Catalog search API (live; release not exposed)