PIP5K1C - 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
Lethal Congenital Contracture Syndrome	causative germline	mechanism: Phosphoinositide Synthesis Deficiency subtype: LCCS3 scoped to subtype: LCCS3
PIP5K1C-Related Neurodevelopmental Disorder	causative de novo gain of function	mechanism: De Novo Activating PIP5K1C Missense Variants

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
PIP5K1C-related neurodevelopmental disorder MONDO:1010145	AD	Strong 2025-05-07	PIP5K1C-Related Neurodevelopmental Disorder causative

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