INF2 - 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
Charcot-Marie-Tooth Disease Dominant Intermediate E	causative germline gain of function	mechanism: INF2 Diaphanous-Inhibitory-Domain Variant
Focal Segmental Glomerulosclerosis	causative	mechanism: Podocyte Injury and Loss subtype: FSGS5 scoped to subtype: FSGS5
Intermediate Charcot-Marie-Tooth Disease	no genetic record	subtype: DI-CMTE

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
Charcot-Marie-Tooth disease dominant intermediate E MONDO:0013758	AD	Definitive 2021-03-22	Charcot-Marie-Tooth Disease Dominant Intermediate E causative Intermediate Charcot-Marie-Tooth Disease no genetic record

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