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 |
|---|---|---|
| Congenital Heart Disease | causative |
mechanism: Endocardial Cushion Formation and Endothelial-to-Mesenchymal Transition Failure
scoped to subtype: RVOTO
|
| PLD1-Related Congenital Heart Disease |
causative
germline
loss of function
CLINGEN: definitive
|
mechanism: PLD1 Biallelic Loss of Function
|
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 |
|---|---|---|---|
| PLD1-related congenital heart disease MONDO:1010144 | AR | Definitive 2024-12-02 |
PLD1-Related Congenital Heart Disease
causative
|
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.