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 |
|---|---|---|
| Familial Vesicoureteral Reflux | causative |
mechanism: Abnormal Ureteric Bud Outgrowth Position; SOX17 Gain of Wnt Antagonism
subtype: VUR3
scoped to subtype: VUR3
|
| Heritable Pulmonary Arterial Hypertension | causative |
mechanism: Pulmonary arterial endothelial dysfunction and apoptotic selection
subtype: Developmental regulator-associated HPAH
scoped to subtype: Developmental regulator-associated HPAH
|
| Idiopathic Pulmonary Arterial Hypertension | susceptibility germline | |
| Pulmonary_hypertension |
untyped
Variants associated with severe PAH phenotype
|
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 |
|---|---|---|---|
| pulmonary arterial hypertension MONDO:0015924 | AD | Definitive 2025-10-22 |
Pulmonary_hypertension
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.