Aliases: DFFRX, FAF, FAF-X, MRX99.
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 |
|---|---|---|
| USP9X Female-Restricted Syndromic Intellectual Disability | causative germline |
mechanism: USP9X Loss-of-Function Allele
variant: USP9X p.Arg215Ter; USP9X p.Glu1764Lys; USP9X p.Ile535Asnfs*11; USP9X p.Lys296Serfs*4; USP9X p.Trp380Ter
|
| Klinefelter Syndrome |
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 |
|---|---|---|---|
| X-linked syndromic intellectual disability MONDO:0020119 | XL | Definitive 2021-11-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.