Previous symbols: CAV.
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 |
|---|---|---|
| Berardinelli-Seip Congenital Lipodystrophy | causative germline |
mechanism: CAV1-dependent caveola loss
subtype: CGL3
scoped to subtype: CGL3
|
| Familial Partial Lipodystrophy | unknown germline |
subtype: CAV1
scoped to subtype: CAV1
|
| Heritable Pulmonary Arterial Hypertension | causative |
mechanism: Pulmonary arterial endothelial dysfunction and apoptotic selection
subtype: Rare endothelial-signaling HPAH
scoped to subtype: Rare endothelial-signaling HPAH
|
| Amyotrophic Lateral Sclerosis |
untyped
Pathogenic Variants
|
|
| Pulmonary_hypertension |
untyped
Implicated in vascular dysfunction
|
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 |
|---|---|---|---|
| amyotrophic lateral sclerosis MONDO:0004976 | AD | Limited 2023-12-21 |
Amyotrophic Lateral Sclerosis
untyped
|
| lipodystrophy MONDO:0006573 | AD | Limited 2025-07-16 |
no dismech entry |
| congenital generalized lipodystrophy type 3 MONDO:0012923 | AR | Definitive 2025-06-11 |
|
| pulmonary arterial hypertension MONDO:0015924 | AD | Definitive 2025-07-30 |
Pulmonary_hypertension
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.