Previous symbols: DFNB48, USH1J. Aliases: KIP2.
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 |
|---|---|---|
| Autosomal Recessive Nonsyndromic Hearing Loss 48 | causative |
mechanism: CIB2 Loss of Function
|
| Usher Syndrome Type 1 | disputed |
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 |
|---|---|---|---|
| Usher syndrome type 1 MONDO:0010168 | AR | Refuted 2019-02-19 |
Usher Syndrome Type 1
disputed
|
| nonsyndromic genetic hearing loss MONDO:0019497 | AR | Definitive 2018-02-20 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.