Previous symbols: AOF2, KDM1. Aliases: KIAA0601, BHC110, LSD1.
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 |
|---|---|---|
| ACTH-Independent Macronodular Adrenal Hyperplasia 3 | causative germline and somatic |
mechanism: Germline Truncating KDM1A Variant; Loss of KDM1A H3K4 Demethylase Activity in Adrenocortical Cells; Somatic Loss of the KDM1A Wild-Type Allele on 1p
|
| KDM1A-Related Neurodevelopmental Disorder | causative de novo |
mechanism: De Novo Missense Variants in the LSD1 Amine Oxidase Domain; Impaired LSD1 Catalytic Activity and Protein Stability; Impaired LSD1 Engagement of Developmental Transcription Factors; Loss of LSD1-CoREST-Mediated Transcriptional Repression
|
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 |
|---|---|---|---|
| palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0014751 | AD | Definitive 2025-10-28 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.