Previous symbols: PMX2B. Aliases: NBPhox.
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 |
|---|---|---|
| Congenital Central Hypoventilation Syndrome | causative | |
| Hirschsprung Disease |
untyped
Germline Mutations
|
|
| Neuroblastoma |
untyped
Germline Predisposition
|
|
| Obstructive Sleep Apnea |
untyped
Risk Factor
|
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 |
|---|---|---|---|
| Haddad syndrome MONDO:0020493 | AD | Definitive 2021-06-15 |
no dismech entry |
| central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0800026 | AD | Definitive 2022-12-30 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.