Previous symbols: HOX1J, HOX1.
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 |
|---|---|---|
| Guttmacher syndrome |
untyped
Causative (provisional; single family)
germline
|
mechanism: HOXA13 Homeodomain Missense Variant
|
| Hand-Foot-Genital Syndrome |
untyped
Pathogenic Variants
|
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 |
|---|---|---|---|
| hand-foot-genital syndrome MONDO:0007698 | AD | Definitive 2025-07-22 |
Hand-Foot-Genital Syndrome
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.