Aliases: MAP5, PPP1R102.
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 |
|---|---|---|
| Hearing Loss Autosomal Dominant 83 | causative |
mechanism: Heterozygous MAP1B Missense Variants at Conserved Residues
animal model: Map1b heterozygous knockout mouse
|
| Periventricular Nodular Heterotopia 9 | causative germline loss of function |
mechanism: MAP1B Haploinsufficiency
|
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies | no genetic record |
mechanism: Selective Dysregulation of Endogenous NMD-Sensitive and uORF-Containing Transcripts
|
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 |
|---|---|---|---|
| periventricular nodular heterotopia MONDO:0020341 | AD | Strong 2024-07-09 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.