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 |
|---|---|---|---|---|---|---|---|
| Heel bone mineral density (BMD) T-score automated | 0.197 | 0.0158 | 1.82e-35 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | 0.169 | 0.0373 | 5.87e-06 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | 0.242 | 0.0771 | 0.00169 | Wald ratio | 1 | cis | NA |
| Fasting insulin | -0.0407 | 0.0148 | 0.00609 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: sleep apnoea | 0.364 | 0.158 | 0.0215 | Wald ratio | 1 | cis | NA |
| Lung cancer | -0.193 | 0.0853 | 0.0236 | Wald ratio | 1 | cis | NA |
| Height | 0.0314 | 0.014 | 0.0249 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.0269 | 0.0125 | 0.0319 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee | -0.22 | 0.104 | 0.0345 | Wald ratio | 1 | cis | NA |
| Gallbladder cancer | 2.69 | 1.29 | 0.0367 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.281 | 0.137 | 0.0409 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R35 Polyuria | 0.301 | 0.149 | 0.0431 | Wald ratio | 1 | cis | NA |
| …and 114 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
222 association rows across 81 traits (207 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 |
|---|---|---|---|---|---|
| Estimated bone mineral density | 2e-120 | rs11887431 | 2 | GCST90726625 | no MR -> candidate analysis |
| Heel bone mineral density | 1e-117 | rs35657711 | 14 | GCST007066 | MR: beta=0.197, p=1.82e-35 (cis) |
| Vertex-wise sulcal depth | 1e-92 | rs2424 | 2 | GCST90095129 | no MR -> candidate analysis |
| Height | 2e-54 | rs12479347 | 6 | GCST90245848 | MR: beta=0.0314, p=0.0249 (cis) |
| CCL18/RARRES2 protein level ratio | 3e-42 | rs7570219 | 1 | GCST90313690 | no MR -> candidate analysis |
| Circulating CCL18 levels | 2e-40 | rs6715862 | 2 | GCST90860473 | no MR -> candidate analysis |
| Vertex-wise cortical surface area | 4e-40 | rs2424 | 1 | GCST90095130 | no MR -> candidate analysis |
| CCL18 protein levels | 1e-38 | rs6715862 | 1 | GCST90468570 | no MR -> candidate analysis |
| Serum levels of protein PKDCC | 1e-37 | rs34372645 | 2 | GCST90090255 | no MR -> candidate analysis |
| Vertex-wise cortical thickness | 2e-32 | rs12623480 | 1 | GCST90095131 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 5e-28 | rs182284067 | 1 | GCST90838669 | no MR -> candidate analysis |
| Brain shape (segment 1) | 3e-27 | rs12623480 | 1 | GCST90012880 | no MR -> candidate analysis |
| …and 69 more traits (see JSON) |
Top diseases by Open Targets association (of 2745 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 |
|---|---|---|---|---|
| rhizomelic limb shortening with dysmorphic features | 0.813 | — | established (curated) | no MR -> candidate analysis |
| hair color | 0.748 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.744 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.572 | — | established (curated) | no MR -> candidate analysis |
| Hallux valgus | 0.505 | — | common-variant locus | no MR -> candidate analysis |
| cleft lip | 0.459 | — | common-variant locus | no MR -> candidate analysis |
| amyotrophic lateral sclerosis | 0.454 | — | common-variant locus | MR: beta=-0.0805, p=0.366 (cis) |
| cleft palate | 0.408 | — | common-variant locus | no MR -> candidate analysis |
| hypospadias | 0.432 | — | common-variant locus | no MR -> candidate analysis |
| mathematical ability | 0.372 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.366 | — | common-variant locus | no MR -> candidate analysis |
| exostosis | 0.354 | — | common-variant locus | no MR -> candidate analysis |
| ventricular fibrillation | 0.354 | — | common-variant locus | no MR -> candidate analysis |
| Hypocalcemia | 0.349 | — | common-variant locus | no MR -> candidate analysis |
| diverticular disease | 0.346 | — | common-variant locus | MR: beta=0.122, p=0.238 (cis) |
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=5.1e-10, LOEUF=1.04 — LoF-tolerant |
| GWAS Catalog | 149 unique SNPs / 355 rows |
| ClinVar | 308 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 2745 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 ‘PKDCC’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 308 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 81 traits by best p-value, aggregated from 222 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/Q504Y2 — 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/ENSG00000162878/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PKDCC — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PKDCC — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PKDCC%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PKDCC — GWAS Catalog search API (live; release not exposed)