Aliases: PBP, Pc-1, TRPP1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Polycystic Kidney Disease | causative |
mechanism: Ciliary Dysfunction
subtype: Autosomal Dominant PKD (ADPKD)
scoped to subtype: Autosomal Dominant PKD (ADPKD)
|
| ALG8-related Autosomal Dominant Polycystic Kidney And/Or Liver Disease |
untyped
MODIFIER
germline
|
|
| Autosomal Dominant Polycystic Kidney Disease |
untyped
CAUSATIVE
|
mechanism: Hepatic epithelial cyst expansion; Polycystin complex dosage loss at the renal primary cilium; Somatic PKD1 or PKD2 inactivation in cyst epithelium; Vascular polycystin dysfunction
subtype: PKD1
|
| Chronic Kidney Disease |
untyped
Causative
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| autosomal dominant polycystic kidney disease MONDO:0004691 | AD | Definitive 2021-02-26 |
Polycystic Kidney Disease
causative
|
| autosomal recessive polycystic kidney disease MONDO:0009889 | AR | Definitive 2023-01-11 |
Polycystic Kidney Disease
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.