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 |
|---|---|---|
| X-linked Nonsyndromic Hearing Loss |
untyped
Limited ClinGen gene-disease validity; family and minigene observations provide variant-level partial evidence without establishing gene-level causality
|
mechanism: Candidate COL4A6-associated cochlear basement-membrane involvement
subtype: DFNX6
scoped to subtype: DFNX6
|
| Alport Syndrome | no genetic record germline loss of function |
mechanism: COL4A5-COL4A6 Contiguous Deletion
subtype: AS-DL
|
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 |
|---|---|---|---|
| hearing loss, X-linked 6 MONDO:0010484 | XL | Limited 2022-02-16 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.