Aliases: PCDGF, PGRN, CLN11.
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 |
|---|---|---|
| Corticobasal Syndrome | causative | |
| Neuronal Ceroid Lipofuscinosis | causative |
mechanism: CLN Endomembrane Protein Dysfunction
subtype: CLN11 Disease
scoped to subtype: CLN11 Disease
|
| Frontotemporal Dementia |
untyped
Mutations cause autosomal dominant FTD with TDP-43 pathology
|
mechanism: TDP-43 Proteinopathy
subtype: Nonfluent Variant PPA
|
| Pick Disease |
untyped
Germline Mutation
|
|
| Primary Progressive Aphasia |
untyped
Causative
|
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 2023-01-03 |
Neuronal Ceroid Lipofuscinosis
causative
|
| frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 | AD | Definitive 2023-05-25 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.