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
Congenital Insensitivity to Pain causative germline
mechanism: Developmental nociceptor apoptosis; Impaired NGF-TRKA-dependent macrophage killing; NGF-TRKA trophic signaling failure
subtype: HSAN V
scoped to subtype: HSAN V
Hereditary Sensory and Autonomic Neuropathy untyped
Causal
mechanism: Impaired NGF-TrkA Neurotrophic Signaling
scoped to subtype: HSAN5
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
hereditary sensory and autonomic neuropathy MONDO:0015364 AR Strong
2023-05-05

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