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 |
|---|---|---|---|---|---|---|---|
| Schizophrenia | 0.266 | 0.0612 | 1.39e-05 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | -0.0743 | 0.0183 | 4.77e-05 | Wald ratio | 1 | cis | NA |
| Fractured or broken bones in last 5 years | 0.136 | 0.0385 | 3.90e-04 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0354 | 0.0122 | 0.00374 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | 0.0992 | 0.0358 | 0.00563 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: ankylosing spondylitis | 0.466 | 0.174 | 0.00737 | Wald ratio | 1 | cis | NA |
| Weight | 0.0316 | 0.0125 | 0.0113 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.0293 | 0.0116 | 0.0113 | Wald ratio | 1 | cis | NA |
| Pulse rate | -0.062 | 0.0249 | 0.0127 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.176 | 0.0728 | 0.0159 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | 0.199 | 0.0832 | 0.0168 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Arm | 0.264 | 0.111 | 0.0171 | Wald ratio | 1 | cis | NA |
| …and 65 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
35 association rows across 28 traits (34 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 |
|---|---|---|---|---|---|
| Body mass index | 3e-23 | rs2287347 | 2 | GCST90662912 | MR: beta=0.0237, p=0.0928 (cis) |
| Reticulocyte count | 2e-18 | rs572243775 | 1 | GCST90002405 | no MR -> candidate analysis |
| Reticulocyte count (UKB data field 30250) | 8e-18 | rs2542589 | 1 | GCST90468100 | no MR -> candidate analysis |
| Reticulocyte percentage (UKB data field 30240) | 2e-17 | rs2542589 | 1 | GCST90468101 | no MR -> candidate analysis |
| Reticulocyte fraction of red cells | 5e-17 | rs2692519 | 1 | GCST90002406 | no MR -> candidate analysis |
| High light scatter reticulocyte count | 2e-16 | rs572243775 | 1 | GCST90002385 | no MR -> candidate analysis |
| High light scatter reticulocyte percentage of red cells | 3e-15 | rs572243775 | 1 | GCST90002386 | no MR -> candidate analysis |
| Lymphocyte count | 2e-13 | rs2542573 | 2 | GCST90002316 | no MR -> candidate analysis |
| Osteoarthritis | 3e-13 | rs12620190 | 1 | GCST90566795 | no MR -> candidate analysis |
| ASGR2 protein levels | 4e-13 | rs2542572 | 1 | GCST90468376 | no MR -> candidate analysis |
| Neutrophil percentage of white cells | 5e-13 | rs753541202 | 1 | GCST90002399 | no MR -> candidate analysis |
| Lymphocyte percentage of white cells | 2e-12 | rs698853 | 1 | GCST90002389 | no MR -> candidate analysis |
| …and 16 more traits (see JSON) |
Top diseases by Open Targets association (of 79 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 |
|---|---|---|---|---|
| Mandibular prognathia | 0.606 | — | established (curated) | no MR -> candidate analysis |
| osteoarthritis | 0.348 | — | common-variant locus | no MR -> candidate analysis |
| anorexia nervosa | 0.292 | — | common-variant locus | no MR -> candidate analysis |
| restless legs syndrome | 0.234 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.226 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, knee | 0.226 | — | common-variant locus | no MR -> candidate analysis |
| insomnia | 0.218 | — | common-variant locus | no MR -> candidate analysis |
| sleep disorder | 0.209 | — | common-variant locus | MR: beta=0.159, p=0.325 (cis) |
| neoplasm | 0.19 | — | common-variant locus | MR: beta=-0.341, p=0.0331 (cis) |
| sleep apnea syndrome | 0.187 | — | common-variant locus | no MR -> candidate analysis |
| male infertility | 0.177 | — | common-variant locus | no MR -> candidate analysis |
| gastric ulcer | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| hemorrhage | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| placental retention | 0.083 | — | common-variant locus | no MR -> candidate analysis |
| total joint arthroplasty | 0.067 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 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=2.5e-11, LOEUF=0.882 — LoF-tolerant |
| GWAS Catalog | 67 unique SNPs / 133 rows |
| ClinVar | 117 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 79 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 ‘ERLEC1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 117 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 28 traits by best p-value, aggregated from 35 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/Q96DZ1 — 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/ENSG00000068912/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ERLEC1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ERLEC1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ERLEC1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ERLEC1 — GWAS Catalog search API (live; release not exposed)