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 |
|---|---|---|
| Alport Syndrome |
causative
germline
CLINGEN: definitive
|
mechanism: Defective Type IV Collagen Network
subtype: Autosomal Dominant; Autosomal Recessive; Digenic
|
| Anti-Glomerular Basement Membrane Disease |
untyped
Autoantigen target (not a causal germline mutation)
|
mechanism: Conformational exposure of cryptic alpha3/alpha5(IV)NC1 epitopes
|
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 |
|---|---|---|---|
| Alport syndrome MONDO:0018965 | SD | Definitive 2021-07-26 |
Alport Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.