Previous symbols: FAM38A. Aliases: KIAA0233.
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 |
|---|---|---|
| Lymphatic malformation 6 | causative germline |
mechanism: PIEZO1 Loss of Function
|
| Prune Belly Syndrome | unknown |
mechanism: Impaired PIEZO1-mediated pressure sensing
|
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 |
|---|---|---|---|
| dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema MONDO:0008689 | AD | Strong 2023-07-02 |
no dismech entry |
| obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis MONDO:0035474 | AR | Definitive 2023-07-03 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.