VLDLR

very low density lipoprotein receptor

2 disorders 1 causative 1 no genetic record 9p24.2 gene with protein product

HGNC:12698 Monarch NCBI Gene 7436 ENSG00000147852 UniProt P98155 OMIM 192977

Aliases: CARMQ1, CHRMQ1, VLDLRCH.

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
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome	causative	mechanism: Disrupted Reelin Signaling (CAMRQ1); Impaired VLDLR surface delivery (CAMRQ1) subtype: CAMRQ1 scoped to subtype: CAMRQ1
Reelin Pathway Lissencephaly	no genetic record	mechanism: VLDLR-ApoER2-DAB1 Signal Transduction Failure

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 ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542	AR	Definitive 2023-06-13	Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome causative

Mechanism modules · computed from kb/

reelin_terminal_translocation_lamination_failure via Reelin Pathway Lissencephaly named in the module itself

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