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 |
|---|---|---|---|---|---|---|---|
| Body mass index (BMI) | -0.0368 | 0.00814 | 6.10e-06 | Wald ratio | 1 | cis | NA |
| Weight | -0.0319 | 0.00719 | 9.33e-06 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: small intestine or small bowel cancer | 0.681 | 0.205 | 8.85e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | -0.187 | 0.0634 | 0.00314 | Wald ratio | 1 | cis | NA |
| Serum creatinine (eGFRcrea) | 0.00895 | 0.00311 | 0.00404 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: joint disorder | 0.232 | 0.0953 | 0.0149 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | -0.0347 | 0.0144 | 0.0158 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | -0.02 | 0.00833 | 0.0167 | Wald ratio | 1 | cis | NA |
| Neuroticism | 0.0272 | 0.0117 | 0.0196 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest | -0.0928 | 0.0399 | 0.0202 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | -0.256 | 0.111 | 0.0212 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | 0.0828 | 0.0363 | 0.0224 | Wald ratio | 1 | cis | NA |
| …and 104 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
36 association rows across 22 traits (27 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 |
|---|---|---|---|---|---|
| Cerebrospinal fluid protein KIAA0232 levels | 3e-309 | rs144443274 | 1 | GCST90940117 | no MR -> candidate analysis |
| NPTX1 protein levels | 2e-112 | rs28670551 | 5 | GCST90470078 | no MR -> candidate analysis |
| Cerebrospinal fluid protein NPTX1 levels | 8e-69 | rs144443274 | 1 | GCST90944838 | no MR -> candidate analysis |
| Neuronal pentraxin-1 levels | 2e-38 | rs144443274 | 1 | GCST90248720 | no MR -> candidate analysis |
| SGSH protein levels | 1e-32 | rs12949110 | 2 | GCST90470615 | no MR -> candidate analysis |
| Blood protein levels | 2e-18 | rs62067239 | 1 | GCST006585 | no MR -> candidate analysis |
| Body mass index | 2e-17 | rs144443274 | 6 | GCST90301650 | MR: beta=-0.0368, p=6.10e-06 (cis) |
| Moyamoya disease | 8e-17 | rs28670551 | 4 | GCST90310003 | no MR -> candidate analysis |
| Personality traits or cognitive traits (multivariate analysi | 2e-14 | rs144443274 | 1 | GCST90270074 | no MR -> candidate analysis |
| BMI and adiposity (confirmatory factor analysis Factor 7) | 2e-12 | rs144443274 | 1 | GCST90309342 | no MR -> candidate analysis |
| Leg fat percentage left (UKB data field 23115) | 3e-12 | rs144443274 | 1 | GCST90468174 | no MR -> candidate analysis |
| Thalamus volume | 1e-10 | rs12600720 | 1 | GCST009669 | no MR -> candidate analysis |
| …and 10 more traits (see JSON) |
Top diseases by Open Targets association (of 177 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 |
|---|---|---|---|---|
| spinocerebellar ataxia 50 | 0.806 | — | established (curated) | no MR -> candidate analysis |
| Irritability | 0.755 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.559 | — | established (curated) | no MR -> candidate analysis |
| morbid obesity | 0.464 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.19 | — | common-variant locus | no MR -> candidate analysis |
| injury | 0.189 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.169 | — | common-variant locus | no MR -> candidate analysis |
| Moyamoya disease | 0.094 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| Blindness | 0.065 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.048 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 12 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=0.98, LOEUF=0.503 — LoF-INTOLERANT |
| GWAS Catalog | 51 unique SNPs / 101 rows |
| ClinVar | 92 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 177 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 ‘NPTX1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 92 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 22 traits by best p-value, aggregated from 36 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/Q15818 — 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/ENSG00000171246/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/NPTX1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NPTX1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NPTX1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/NPTX1 — GWAS Catalog search API (live; release not exposed)