ZAP70 - 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
Autoimmune Disease, Multisystem, Infantile-Onset, 2	causative germline hypermorphicpartial loss of function	mechanism: Activating ZAP70 Autoinhibition-Weakening Allele; Hypomorphic ZAP70 SH2 Docking Allele discussion: (unnamed)
ZAP70 Deficiency	causative germline

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
combined immunodeficiency due to ZAP70 deficiency MONDO:0010023	AR	Definitive 2022-02-08	ZAP70 Deficiency causative

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