CausalSentinel

Protein Dossier — PDGFD (Platelet-derived growth factor D)

MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).

1. Published MR estimates (retrieved, not computed)

Outcome beta se p method nSNP cis/trans coloc
Hearing difficulty or problems: Yes -0.0648 0.0179 2.94e-04 Wald ratio 1 cis NA
Diastolic blood pressure automated reading -0.0304 0.00995 0.00227 Wald ratio 1 cis NA
Diagnoses - main ICD10: M72 Fibroblastic disorders 0.3 0.0991 0.00247 Wald ratio 1 cis NA
Diagnoses - main ICD10: K29 Gastritis and duodenitis 0.137 0.055 0.0125 Wald ratio 1 cis NA
Subjective well being 0.0255 0.0109 0.0196 Wald ratio 1 cis NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level 0.619 0.271 0.0224 Wald ratio 1 cis NA
Alcohol intake frequency -0.0326 0.0144 0.023 Wald ratio 1 cis NA
Vascular or heart problems diagnosed by doctor: Angina -0.139 0.0629 0.0271 Wald ratio 1 cis NA
Body mass index (BMI) -0.0212 0.00971 0.0292 Wald ratio 1 cis NA
IgA nephropathy 0.689 0.32 0.0312 Wald ratio 1 cis NA
Non-cancer illness code self-reported: asthma -0.0614 0.029 0.034 Wald ratio 1 cis NA
Diagnoses - main ICD10: L03 Cellulitis 0.191 0.0902 0.0345 Wald ratio 1 cis NA
…and 76 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

87 association rows across 68 traits (60 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
Serum levels of protein PDGFD 4e-245 rs10895596 2 GCST90090642 no MR -> candidate analysis
Platelet-derived growth factor D levels 1e-242 rs7115797 4 GCST90248911 no MR -> candidate analysis
Blood protein levels 3e-129 rs10895596 1 GCST006585 no MR -> candidate analysis
Platelet-derived growth factor D (analyte X9341.1) levels 9e-61 rs7937813 1 GCST90427772 no MR -> candidate analysis
Height 7e-36 rs10791660 2 GCST90245848 MR: beta=-0.00909, p=0.435 (cis)
Platelet-derived growth factor D levels (PDGFD.9341.1.3) 1e-24 rs7950273 1 GCST90242289 no MR -> candidate analysis
Platelet-derived growth factor D level in Chronic kidney dis 1e-22 rs10895596 1 GCST90239319 no MR -> candidate analysis
Free Cholesterol to Cholesteryl Esters in Very Large HDL rat 3e-19 rs10895594 1 GCST90828013 no MR -> candidate analysis
MMP-12 levels 2e-17 rs71467219 2 GCST90274905 no MR -> candidate analysis
Total cholesterol levels 2e-15 rs11226108 3 GCST90239673 no MR -> candidate analysis
Occipital area 2e-15 rs361286 1 GCST90572697 no MR -> candidate analysis
Core binding factor acute myeloid leukemia 3e-15 rs11226158; rs11226159 2 GCST008413 no MR -> candidate analysis
…and 56 more traits (see JSON)          

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 380 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
coronary artery disorder 0.631 common-variant locus no MR -> candidate analysis
coronary atherosclerosis 0.614 common-variant locus no MR -> candidate analysis
response to corticosteroid 0.552 common-variant locus no MR -> candidate analysis
angina pectoris 0.478 common-variant locus no MR -> candidate analysis
myocardial ischemia 0.469 common-variant locus no MR -> candidate analysis
pulmonary vascular congestion 0.463 common-variant locus no MR -> candidate analysis
connective tissue neoplasm 0.463 common-variant locus no MR -> candidate analysis
Abnormality of the skeletal system 0.452 common-variant locus no MR -> candidate analysis
type 1 diabetes mellitus 0.405 common-variant locus no MR -> candidate analysis
celiac disease 0.396 common-variant locus no MR -> candidate analysis
cervical carcinoma 0.396 common-variant locus no MR -> candidate analysis
placental abruption 0.377 common-variant locus no MR -> candidate analysis
bone neoplasm 0.371 common-variant locus no MR -> candidate analysis
poisoning 0.371 common-variant locus no MR -> candidate analysis
Varicose veins 0.367 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 15 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.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=2.6e-07, LOEUF=0.91 — LoF-tolerant
GWAS Catalog 82 unique SNPs / 143 rows
ClinVar 171 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance