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 |
|---|---|---|---|---|---|---|---|
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.132 | 0.0294 | 7.53e-06 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.147 | 0.0349 | 2.58e-05 | Wald ratio | 1 | cis | NA |
| Bipolar disorder | -0.433 | 0.108 | 6.28e-05 | Wald ratio | 1 | cis | NA |
| Years of schooling | -0.0511 | 0.017 | 0.0027 | Wald ratio | 1 | cis | NA |
| Knee osteoarthritis | -0.309 | 0.128 | 0.0157 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.279 | 0.12 | 0.0202 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | 0.151 | 0.0682 | 0.0272 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate | 0.238 | 0.11 | 0.0306 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | -0.211 | 0.1 | 0.0348 | Wald ratio | 1 | cis | NA |
| PGC cross-disorder traits | -0.115 | 0.0545 | 0.0352 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | -0.0414 | 0.0202 | 0.0401 | Wald ratio | 1 | cis | NA |
| Neo-openness to experience | -0.635 | 0.318 | 0.0459 | Wald ratio | 1 | cis | NA |
| …and 105 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
16 association rows across 14 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 |
|---|---|---|---|---|---|
| CTSF protein levels | 2e-229 | rs1044522 | 2 | GCST90468912 | no MR -> candidate analysis |
| Circulating CTSF levels | 1e-223 | rs1044522 | 2 | GCST90860585 | no MR -> candidate analysis |
| Cathepsin F levels | 1e-65 | rs4930383 | 1 | GCST90246848 | no MR -> candidate analysis |
| Copper chaperone for superoxide dismutase levels | 2e-36 | rs636128 | 1 | GCST90246926 | no MR -> candidate analysis |
| Islet amyloid polypeptide levels | 6e-36 | rs4930384 | 1 | GCST90247967 | no MR -> candidate analysis |
| B4GAT1 protein levels | 4e-30 | rs544975859 | 1 | GCST90468413 | no MR -> candidate analysis |
| Circulating B4GAT1 levels | 4e-28 | rs544975859 | 1 | GCST90860648 | no MR -> candidate analysis |
| Cathepsin F levels (CTSF.9212.22.3) | 3e-18 | rs1791679 | 1 | GCST90240621 | no MR -> candidate analysis |
| Chronotype | 5e-13 | rs662094 | 1 | GCST007576 | no MR -> candidate analysis |
| Posterior thigh muscle fat infiltration percentage | 2e-10 | rs662094 | 1 | GCST90267355 | no MR -> candidate analysis |
| CCS protein levels | 3e-8 | rs692892 | 1 | GCST90453013 | no MR -> candidate analysis |
| Airway imaging phenotypes | 9e-7 | rs113835537 | 1 | GCST002941 | no MR -> candidate analysis |
| …and 2 more traits (see JSON) |
Top diseases by Open Targets association (of 1455 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 |
|---|---|---|---|---|
| neuronal ceroid lipofuscinosis 13 | 0.892 | — | established (curated) | no MR -> candidate analysis |
| CLN13 disease | 0.608 | — | established (curated) | no MR -> candidate analysis |
| neuronal ceroid lipofuscinosis | 0.826 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.815 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.77 | — | established (curated) | no MR -> candidate analysis |
| bipolar disorder | 0.664 | — | common-variant locus | MR: beta=-0.433, p=6.28e-05 (cis) |
| asthma | 0.572 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.55 | — | common-variant locus | no MR -> candidate analysis |
| neurodevelopmental disorder | 0.547 | — | established (curated) | no MR -> candidate analysis |
| mental disorder | 0.357 | — | common-variant locus | no MR -> candidate analysis |
| total hip arthroplasty | 0.342 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.342 | — | common-variant locus | MR: beta=0.126, p=0.321 (cis) |
| developmental disability | 0.195 | — | established (curated) | no MR -> candidate analysis |
Of the 13 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 | 0 known modulators (Cathepsin F) |
| gnomAD constraint | pLI=4.7e-23, LOEUF=1.26 — LoF-tolerant |
| GWAS Catalog | 75 unique SNPs / 150 rows |
| ClinVar | 339 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1455 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 ‘CTSF’ and resolved to ‘Cathepsin F’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 339 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 14 of 14 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/Q9UBX1 — 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/ENSG00000174080/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2517/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CTSF — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CTSF — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CTSF%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CTSF — GWAS Catalog search API (live; release not exposed)