Aliases: CPRP1, KIAA0214, MARF, CMT2A2.
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 |
|---|---|---|
| Autosomal Dominant Optic Atrophy Plus | causative |
mechanism: Mitochondrial DNA Instability and Secondary mtDNA Deletions
|
| Charcot-Marie-Tooth Disease Type 2 | causative |
mechanism: Impaired Mitochondrial Axonal Transport; Mitochondrial Fragmentation
subtype: CMT2A; CMT2A2B; HMSN6A
scoped to subtype: CMT2A, CMT2A2B, HMSN6A
|
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B | causative germline dominant negative |
mechanism: Biallelic MFN2 Variants; Dysfunctional Mitofusin-2 Above the Semidominant Dosage Threshold; Failure of Mitochondrial Outer Membrane Fusion
|
| Charcot-Marie-Tooth Disease |
untyped
Causal
|
|
| Familial Partial Lipodystrophy | untyped germline | |
| Hepatocellular Carcinoma | no genetic record |
mechanism: MFN2 Suppression and Impaired Mitochondrial Fusion
|
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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 2A2 MONDO:0012231 | SD | Definitive 2026-08-08 |
Charcot-Marie-Tooth Disease Type 2
causative
|
| multiple symmetric lipomatosis with partial lipodystrophy MONDO:1060153 | AR | Definitive 2025-09-10 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.