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 |
|---|---|---|
| Juvenile Neuronal Ceroid Lipofuscinosis | causative germline |
mechanism: CLN5 soluble lysosomal protein dysfunction; Lysosomal Ceroid-Lipofuscin Storage
subtype: CLN5 disease, juvenile onset
scoped to subtype: CLN5 disease, juvenile onset
|
| Neuronal Ceroid Lipofuscinosis | causative |
mechanism: Soluble Lysosomal Enzyme and Protein Deficiency
subtype: CLN5 Disease
scoped to subtype: CLN5 Disease
|
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 |
|---|---|---|---|
| neuronal ceroid lipofuscinosis MONDO:0016295 | AR | Definitive 2021-09-08 |
Neuronal Ceroid Lipofuscinosis
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.