Aliases: WBS, WS, SVAS.
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 Dominant Cutis Laxa 1 |
untyped
Heterozygous pathogenic variants causing ELN-related cutis laxa
|
mechanism: C-Terminally Altered Tropoelastin; Heterozygous ELN Pathogenic Variant
|
| Congenital Renal Artery Stenosis |
untyped
Monogenic vasculopathy / Williams-associated renovascular disease gene
|
|
| Williams Syndrome | untyped |
mechanism: ELN Haploinsufficiency
animal model: Mus musculus
|
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 |
|---|---|---|---|
| cutis laxa, autosomal dominant 1 MONDO:0007411 | AD | Definitive 2024-10-04 |
Autosomal Dominant Cutis Laxa 1
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.