Aliases: MRP-S, RP-S7, RPMS7, uS7m.
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 |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 34 | causative germline loss of function |
mechanism: Biallelic MRPS7 Variants; Destabilization of the uS7m Protein of the Mitoribosomal Small Subunit
|
| Perrault Syndrome | causative |
mechanism: Biallelic Loss of Mitochondrial Gene-Expression and Proteostasis Factors
|
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 |
|---|---|---|---|
| mitochondrial disease MONDO:0044970 | AR | Limited 2024-06-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.