RAI1

retinoic acid induced 1

3 disorders 1 no genetic record 1 susceptibility 1 untyped 17p11.2 gene with protein product

HGNC:9834 Monarch NCBI Gene 10743 ENSG00000108557 UniProt Q7Z5J4 OMIM 607642

Previous symbols: SMCR. Aliases: DKFZP434A139, SMS, KIAA1820, MGC12824.

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
Potocki-Lupski Syndrome	susceptibility hypermorphic	mechanism: Increased RAI1 Dosage
Smith-Magenis Syndrome	untyped Causative
Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy	no genetic record	mechanism: RAI1 locus-specific repeat expansion; TTTCA-containing intronic pentanucleotide repeat expansion subtype: RAI1 repeat form variant: RAI1 intronic TTTTA/TTTCA repeat expansion

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
Smith-Magenis syndrome MONDO:0008434	AD	Definitive 2018-09-04	Smith-Magenis Syndrome untyped

Mechanism modules · computed from kb/

fame_pentanucleotide_repeat_rna_toxicity via Pentanucleotide Repeat Familial Adult Myoclonus Epilepsy

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