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 |
|---|---|---|
| MBD4-Related Uveal Melanoma Predisposition | risk factor germlinesomatic loss of function |
mechanism: Heterozygous Germline MBD4 Loss of Function; Somatic Loss of the Wild-Type MBD4 Allele by Chromosome 3 Loss
|
| MBD4-Related Tumor Predisposition Syndrome |
untyped
Biallelic germline loss-of-function variants in MBD4 cause MBD4-related tumor predisposition syndrome.
germline
loss of function
CLINGEN: moderate
|
mechanism: Biallelic Germline MBD4 Loss of Function
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.