CAMTA1 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

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 Cerebellar Ataxia Type I	untyped CAMTA1 intragenic rearrangements and CG-1 domain variants	mechanism: Transcriptional Dysregulation subtype: CANPMR scoped to subtype: CANPMR
Epithelioid Hemangioendothelioma	untyped Somatic gene fusion partner (3-prime partner of WWTR1-CAMTA1) somatic	mechanism: WWTR1-CAMTA1 Fusion Oncogene Formation

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0013886	AD	Definitive 2023-05-16	Autosomal Dominant Cerebellar Ataxia Type I untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.