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 |
|---|---|---|
| Splenic Marginal Zone Lymphoma | somatic driver somatic | |
| Alagille syndrome |
untyped
Causal heterozygous variant
|
mechanism: NOTCH2 pathogenic variant
subtype: NOTCH2 point-variant ALGS
|
| Glomus Tumor | untyped somatic |
mechanism: MIR143-NOTCH Gene Fusion
|
| Hajdu-Cheney Syndrome |
untyped
Gain-of-function terminal-exon truncating mutation
|
mechanism: NOTCH2 terminal-exon truncation escapes nonsense-mediated decay
|
| Semicircular Canal Dehiscence Syndrome |
untyped
Risk Factor
|
|
| Marginal Zone Lymphoma | no genetic record |
mechanism: Deregulation of Marginal Zone B-Cell Differentiation Signalling
|
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 |
|---|---|---|---|
| acroosteolysis dominant type MONDO:0007057 | AD | Definitive 2025-04-14 |
Hajdu-Cheney Syndrome
untyped
|
| Alagille syndrome MONDO:0007318 | AD | Definitive 2025-02-26 |
Alagille syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.