Previous symbols: AGMX1, IMD1. Aliases: ATK, XLA, PSCTK1.
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 |
|---|---|---|
| Isolated Growth Hormone Deficiency | unknown germline |
mechanism: BTK-Region Xq21.3-q22 Genetic Lesion
subtype: Type III
|
| X-linked Agammaglobulinemia |
untyped
Causative
|
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 |
|---|---|---|---|
| Bruton-type agammaglobulinemia MONDO:0010421 | XL | Definitive 2020-10-20 |
X-linked Agammaglobulinemia
untyped
|
| isolated growth hormone deficiency type III MONDO:0010615 | XL | Disputed 2020-11-17 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.