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: N92 Excessive frequent and irregular menstruation | -0.0834 | 0.027 | 0.00204 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | -0.102 | 0.0374 | 0.00662 | Wald ratio | 1 | cis | NA |
| Clear cell ovarian cancer | 0.165 | 0.0682 | 0.0156 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.104 | 0.0468 | 0.0257 | Wald ratio | 1 | cis | NA |
| Weight | -0.00664 | 0.00315 | 0.035 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: migraine | -0.0421 | 0.0215 | 0.0504 | Wald ratio | 1 | cis | NA |
| Sodium in urine | -0.00642 | 0.00351 | 0.0676 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | -0.0111 | 0.00623 | 0.075 | Wald ratio | 1 | cis | NA |
| Schizophrenia | 0.0326 | 0.0187 | 0.0809 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee | 0.0396 | 0.0231 | 0.0859 | Wald ratio | 1 | cis | NA |
| Invasive mucinous ovarian cancer | 0.113 | 0.0663 | 0.0878 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest | -0.0279 | 0.0164 | 0.0888 | Wald ratio | 1 | cis | NA |
| …and 64 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
90 association rows across 52 traits (66 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 |
|---|---|---|---|---|---|
| Biotinidase levels | 4e-682 | rs13078881 | 4 | GCST90246705 | no MR -> candidate analysis |
| BTD protein levels | 5e-204 | rs7651039 | 9 | GCST90468477 | no MR -> candidate analysis |
| Serum levels of protein BTD | 3e-126 | rs71627145 | 2 | GCST90090597 | no MR -> candidate analysis |
| Cerebrospinal fluid protein BTD levels | 1e-104 | rs13092272 | 1 | GCST90945077 | no MR -> candidate analysis |
| Biotinidase (analyte X9269.7) levels | 8e-51 | rs35034250 | 1 | GCST90427735 | no MR -> candidate analysis |
| Biotinidase (analyte X15644.1) levels | 9e-37 | rs35617908 | 1 | GCST90422778 | no MR -> candidate analysis |
| X-18913 levels | 6e-27 | rs2470528 | 1 | GCST90140504 | no MR -> candidate analysis |
| Biotinidase level in Chronic kidney disease with hypertensio | 1e-25 | rs6807875 | 1 | GCST90239282 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 4e-23 | rs6787119 | 1 | GCST90838669 | no MR -> candidate analysis |
| mean platelet volume (MPV, maximum, inv-norm transformed) | 9e-23 | rs2455815 | 1 | GCST90479707 | no MR -> candidate analysis |
| Metabolic syndrome | 2e-22 | rs2255248 | 1 | GCST90444487 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 2e-17 | rs56263384 | 1 | GCST90468087 | no MR -> candidate analysis |
| …and 40 more traits (see JSON) |
Top diseases by Open Targets association (of 1415 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 |
|---|---|---|---|---|
| biotinidase deficiency | 0.918 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.886 | — | established (curated) | no MR -> candidate analysis |
| Optic neuropathy | 0.438 | — | established (curated) | no MR -> candidate analysis |
| Global developmental delay | 0.24 | — | established (curated) | no MR -> candidate analysis |
| Intellectual disability | 0.228 | — | established (curated) | no MR -> candidate analysis |
| Generalized hypotonia | 0.182 | — | established (curated) | no MR -> candidate analysis |
| cryptorchidism | 0.182 | — | established (curated) | no MR -> candidate analysis |
| Macrocephaly | 0.182 | — | established (curated) | no MR -> candidate analysis |
| diabetes mellitus | 0.135 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.118 | — | common-variant locus | no MR -> candidate analysis |
Of the 10 rows above, 10 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 | 0 known modulators (Biotinidase) |
| gnomAD constraint | pLI=0.00037, LOEUF=1.17 — LoF-tolerant |
| GWAS Catalog | 97 unique SNPs / 194 rows |
| ClinVar | 995 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1415 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘BTD’ and resolved to ‘Biotinidase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 995 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 52 traits by best p-value, aggregated from 90 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/P43251 — 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/ENSG00000169814/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4802066/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/BTD — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BTD — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BTD%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/BTD — GWAS Catalog search API (live; release not exposed)