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: D12 Benign neoplasm of colon rectum anus and anal canal | 0.162 | 0.0553 | 0.00342 | Wald ratio | 1 | trans | NA |
| 2hr glucose | -0.141 | 0.0613 | 0.0217 | Wald ratio | 1 | trans | NA |
| Sleep duration | 0.0134 | 0.00599 | 0.0256 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) | 0.108 | 0.049 | 0.0273 | Wald ratio | 1 | trans | NA |
| Type 2 diabetes | 0.068 | 0.0311 | 0.0285 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | 0.156 | 0.0768 | 0.0418 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: enlarged prostate | -0.157 | 0.0773 | 0.0425 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest | -0.0722 | 0.0369 | 0.0502 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | 0.111 | 0.0574 | 0.0537 | Wald ratio | 1 | trans | NA |
| Years of schooling | 0.0151 | 0.00805 | 0.0608 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.103 | 0.0566 | 0.07 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: depression | -0.0597 | 0.0336 | 0.0761 | Wald ratio | 1 | trans | NA |
| …and 86 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
25 association rows across 24 traits (25 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 |
|---|---|---|---|---|---|
| ISLR2 protein levels | 2e-297 | rs183853102 | 1 | GCST90469629 | no MR -> candidate analysis |
| IL3RA protein levels | 9e-255 | rs183853102 | 1 | GCST90469596 | no MR -> candidate analysis |
| PECAM1 protein levels | 6e-239 | rs183853102 | 1 | GCST90470206 | no MR -> candidate analysis |
| MUC2 protein levels | 3e-221 | rs183853102 | 2 | GCST90469965 | no MR -> candidate analysis |
| GP2 protein levels | 1e-220 | rs183853102 | 1 | GCST90469382 | no MR -> candidate analysis |
| EPHA4 protein levels | 3e-211 | rs183853102 | 1 | GCST90469131 | no MR -> candidate analysis |
| CDH17 protein levels | 8e-197 | rs183853102 | 1 | GCST90468669 | no MR -> candidate analysis |
| ROBO4 protein levels | 2e-180 | rs183853102 | 1 | GCST90470491 | no MR -> candidate analysis |
| ENG protein levels | 4e-164 | rs183853102 | 1 | GCST90469108 | no MR -> candidate analysis |
| CLEC1A protein levels | 2e-79 | rs183853102 | 1 | GCST90468767 | no MR -> candidate analysis |
| ADAM15 protein levels | 7e-69 | rs183853102 | 1 | GCST90468217 | no MR -> candidate analysis |
| CUZD1 protein levels | 4e-58 | rs183853102 | 1 | GCST90468919 | no MR -> candidate analysis |
| …and 12 more traits (see JSON) |
Top diseases by Open Targets association (of 215 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 |
|---|---|---|---|---|
| Leigh syndrome | 0.946 | — | established (curated) | no MR -> candidate analysis |
| Charcot-Marie-Tooth disease type 4K | 0.861 | — | established (curated) | no MR -> candidate analysis |
| mitochondrial complex IV deficiency, nuclear type 22 | 0.963 | — | established (curated) | no MR -> candidate analysis |
| SURF1-related Charcot-Marie-Tooth disease type 4 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Isolated cytochrome C oxidase deficiency | 0.94 | — | established (curated) | no MR -> candidate analysis |
| mitochondrial disease | 0.699 | — | established (curated) | no MR -> candidate analysis |
| leigh syndrome due to mitochondrial complex iv deficiency | 0.941 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.862 | — | established (curated) | no MR -> candidate analysis |
| cerebellar ataxia | 0.669 | — | established (curated) | no MR -> candidate analysis |
| Muscle weakness | 0.669 | — | established (curated) | no MR -> candidate analysis |
| Abnormal pyramidal sign | 0.669 | — | established (curated) | no MR -> candidate analysis |
| Dysarthria | 0.669 | — | established (curated) | no MR -> candidate analysis |
| fatal infantile encephalocardiomyopathy | 0.559 | — | established (curated) | no MR -> candidate analysis |
Of the 13 rows above, 13 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=1.7e-19, LOEUF=1.69 — LoF-tolerant |
| GWAS Catalog | 322 unique SNPs / 770 rows |
| ClinVar | 865 records; 13 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 215 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 ‘SURF1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 865 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 25 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/Q15526 — 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/ENSG00000148290/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SURF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SURF1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SURF1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SURF1 — GWAS Catalog search API (live; release not exposed)