Previous symbols: BPAG1. Aliases: BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2.
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 |
|---|---|---|
| Hereditary Sensory and Autonomic Neuropathy Type 6 | causative germline |
mechanism: Biallelic Loss of Neuronal DST-a Isoforms
|
| Lethal Congenital Contracture Syndrome | causative germline |
mechanism: Combined Neuronal and Muscle Dystonin Deficiency
subtype: LCCS12
scoped to subtype: LCCS12
|
| Epidermolysis Bullosa Simplex |
untyped
Causative
|
mechanism: BPAG1-e Deficiency Disrupts the Hemidesmosomal Inner Plaque
subtype: EBS BP230
scoped to subtype: EBS BP230
|
| Bullous Pemphigoid | no genetic record |
mechanism: Anti-Hemidesmosomal Autoantibody Formation
|
| Mucous Membrane Pemphigoid | no genetic record |
mechanism: Anti-Basement Membrane Zone Autoantibody Production
|
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 |
|---|---|---|---|
| hereditary sensory and autonomic neuropathy type 6 MONDO:0013839 | AR | Definitive 2021-12-14 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.