PAX2 - 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
Focal Segmental Glomerulosclerosis	causative	mechanism: PAX2 Transcription Factor Dysfunction subtype: FSGS7 scoped to subtype: FSGS7
Renal Coloboma Syndrome	causative germline loss of function	mechanism: PAX2 Haploinsufficiency
Renal Agenesis	untyped Renal coloboma syndrome / renal hypoplasia-agenesis	mechanism: Failed ureteric bud outgrowth and metanephric induction scoped to subtype: Syndromic

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
focal segmental glomerulosclerosis 7 MONDO:0014451	AD	Definitive 2021-09-13	Focal Segmental Glomerulosclerosis causative

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