Previous symbols: IBD1, CARD15. Aliases: BLAU, CD, PSORAS1, CLR16.3, NLRC2.
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 |
|---|---|---|
| Blau Syndrome | causative |
mechanism: Defective NOD2-RIPK2-IRF4 Cross-Regulation; IFN-γ-Primed Mutant NOD2 Inflammatory Signaling; Pathogenic NOD2 NACHT-Domain Variants
|
| Juvenile Idiopathic Arthritis | risk factor | |
| Neurosarcoidosis | causative germline | |
| Pyoderma Gangrenosum | susceptibility | |
| Yao Syndrome | susceptibility germline |
mechanism: NOD2 Low-Penetrance Susceptibility Variants
|
| Crohn Disease |
untyped
Risk Factor
|
mechanism: Antimicrobial Defense Deficiency
|
| Pouchitis | no genetic record |
mechanism: NOD2 Genetic Susceptibility
|
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 |
|---|---|---|---|
| Blau syndrome MONDO:0008523 | AD | Definitive 2020-10-07 |
Blau Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.