Previous symbols: C1orf28, HRPT2, HRPT1. Aliases: parafibromin, FIHP.
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 |
|---|---|---|
| Parathyroid Gland Carcinoma | somatic driver somatic loss of function |
mechanism: CDC73 Biallelic Inactivation
|
| Parathyroid Hyperplasia |
untyped
Predisposing
|
scoped to subtype: Primary MGD
|
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 |
|---|---|---|---|
| hyperparathyroidism 2 with jaw tumors MONDO:0007768 | AD | Definitive 2019-04-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.