Previous symbols: VMD2. Aliases: BMD, BEST, RP50.
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 |
|---|---|---|
| BEST1 Bestrophinopathies |
untyped
Causative
|
mechanism: BEST1 Channel Dysfunction; BEST1 Deep-Intronic Splice Alteration
|
| BEST1-Related Dominant Retinopathy |
untyped
Causative
|
mechanism: BEST1 Calcium-Activated Chloride Channel Dysfunction
|
| Adult-Onset Foveomacular Vitelliform Dystrophy | no genetic record |
mechanism: Photoreceptor Outer-Segment / RPE Interface Dysfunction
subtype: BEST1-related
|
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 |
|---|---|---|---|
| BEST1-related dominant retinopathy MONDO:0700238 | AD | Definitive 2023-08-03 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.