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 |
|---|---|---|
| ACys Amyloidosis | causative germline |
mechanism: CST3 L68Q Founder Variant; Destabilized L68Q Cystatin C Precursor
|
| Age-Related Macular Degeneration | susceptibility germline |
mechanism: Bruch Membrane Protein Homeostasis Gene Variation
|
| Cerebral Amyloid Angiopathy | causative |
mechanism: Cystatin C amyloid aggregation
subtype: ACys
scoped to subtype: ACys
|
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 |
|---|---|---|---|
| ACys amyloidosis MONDO:0007098 | AD | Limited 2026-06-24 |
ACys Amyloidosis
causative
Cerebral Amyloid Angiopathy
causative
|
| leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy MONDO:0979226 | AD | Limited 2026-04-22 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.