ELP1 - 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
Hereditary Sensory and Autonomic Neuropathy	untyped Causal	mechanism: Elongator Complex Deficiency scoped to subtype: HSAN3
Riley-Day Syndrome	untyped Causal	mechanism: ELP1 Intron 20 Donor Splice Site Weakening; Neuronal Elongator Complex Deficiency; Tissue-Specific Skipping of ELP1 Exon 20

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
Riley-Day syndrome MONDO:0009131	AR	Moderate 2025-05-29	Riley-Day Syndrome untyped

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