LIG1 - 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
Immunodeficiency 96	causative germline partial loss of function	mechanism: Biallelic Hypomorphic LIG1 Variants variant: LIG1 p.Ala624Thr (A624T); LIG1 p.Arg641Leu (R641L); LIG1 p.Arg771Trp (R771W); LIG1 p.Thr415MetfsTer10 (T415Mfs*10)
Huntington Disease	untyped Genetic Modifier

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
immunodeficiency 96 MONDO:0030693	AR	Definitive 2025-09-18	Immunodeficiency 96 causative

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