Previous symbols: WDTC2. Aliases: gs114, KIAA0590.
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 |
|---|---|---|
| Cranioectodermal Dysplasia | causative germline |
mechanism: Intraflagellar Transport Dysfunction
subtype: CED5
scoped to subtype: CED5
|
| IFT140-related Recessive Ciliopathy | causative germline |
mechanism: IFT-A Retrograde Intraflagellar Transport Failure
subtype: Non-syndromic RP80; Syndromic Conorenal
|
| Polycystic Kidney Disease | causative |
mechanism: Ciliary Dysfunction
subtype: Autosomal Dominant PKD (ADPKD)
scoped to subtype: Autosomal Dominant PKD (ADPKD)
|
| Autosomal Dominant Polycystic Kidney Disease |
untyped
CAUSATIVE
|
mechanism: IFT140-associated ciliary dysfunction; Proposed loss of IFT140-mediated TULP3 binding
|
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 2024-04-09 |
Polycystic Kidney Disease
causative
|
| IFT140-related recessive ciliopathy MONDO:0100509 | AR | Definitive 2022-07-07 |
IFT140-related Recessive Ciliopathy
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.