In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Esophageal Atresia susceptibility
Feingold Syndrome causative germline
mechanism: Impaired brain and neural development; MYCN haploinsufficiency; Reduced PI3K signaling in limb mesenchyme
subtype: Type 1
animal model: Mouse
scoped to subtype: Type 1
Alveolar Rhabdomyosarcoma untyped
Secondary Genetic Event
mechanism: YOD1-N-Myc PAX-FOXO1 Feedback Loop
Medulloblastoma, SHH-Activated untyped
Amplification
Neuroblastoma untyped
Oncogene Amplification
animal model: Xenopus anteroventral noradrenergic (AVNA) cell differentiation model
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech entry
Feingold syndrome type 1 MONDO:0008115 AD Definitive
2025-07-02
megalencephaly-polydactyly syndrome MONDO:0958279 AD Moderate
2026-01-07
no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.