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 |
|---|---|---|
| Auriculocondylar Syndrome | causative |
mechanism: PLCB4 Disease Alleles; Reduced EDNRA-Dependent Phospholipase C Activity
subtype: ARCND2A; ARCND2B
scoped to subtype: ARCND2A, ARCND2B
|
| Ocular Melanoma | somatic driver somatic |
mechanism: Gq/G11 Alpha Subunit Activating Mutation
scoped to subtype: Uveal Melanoma
|
| Meningeal Melanocytoma | no genetic record |
mechanism: G-alpha-q Pathway Activation
|
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 |
|---|---|---|---|
| auriculocondylar syndrome 2 MONDO:0013845 | AD | Definitive 2023-06-07 |
Auriculocondylar Syndrome
causative
|
| auriculocondylar syndrome 2 MONDO:0013845 | AR | Definitive 2025-06-30 |
Auriculocondylar Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.