Previous symbols: FMS. Aliases: M-CSF-R, C-FMS, CSFR, CD115.
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 |
|---|---|---|
| Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis | causative germline |
mechanism: Biallelic CSF1R Loss of Function
|
| Hereditary Diffuse Leukoencephalopathy with Spheroids | causative germline | |
| Ectopic Pregnancy | no genetic record |
mechanism: Unrestrained Trophoblast Invasion of the Tubal Wall
|
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 |
|---|---|---|---|
| brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032772 | AR | Definitive 2026-08-13 |
|
| leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027 | AD | Definitive 2025-12-19 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.