Previous symbols: DFNB86. Aliases: KIAA1171, TLDC6, DFNA65.
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 |
|---|---|---|
| Developmental And Epileptic Encephalopathy 16 | causative germline | |
| DOORS Syndrome | causative germline |
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 |
|---|---|---|---|
| DOORS syndrome MONDO:0009079 | AR | Definitive 2020-03-11 |
DOORS Syndrome
causative
|
| nonsyndromic genetic hearing loss MONDO:0019497 | AD | Limited 2024-06-25 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.