Previous symbols: SYNS1, SYM1.
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 |
|---|---|---|
| Brachydactyly Type B2 | causative germline |
mechanism: Subtle Alteration of NOGGIN Ligand Binding
|
| NOG-Related Symphalangism Spectrum Disorder |
causative
germline
CLINGEN: definitive
|
mechanism: NOG Loss of Function
|
| Humeroradial Synostosis |
untyped
Causative
|
|
| Multiple Synostoses Syndrome |
untyped
Causative
|
mechanism: BMP Signaling Dysregulation
|
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 |
|---|---|---|---|
| NOG-related symphalangism spectrum disorder MONDO:0100521 | AD | Definitive 2023-07-05 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.