Aliases: CD113t-C, beta-globin.
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 |
|---|---|---|
| Invasive Non-Typhoidal Salmonellosis | susceptibility | |
| Pyrimidine 5-Nucleotidase Deficiency | modifier | |
| Beta Thalassemia |
untyped
Causative
|
mechanism: Defective Beta-Globin Synthesis
|
| Dominant Beta-Thalassemia |
untyped
Causal heterozygous variant
germline
dominant negative
|
mechanism: Heterozygous HBB Exon 3 Variant Producing a Hyperunstable Beta-Globin Chain
|
| Sickle Cell Disease |
untyped
Causative
|
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 |
|---|---|---|---|
| dominant beta-thalassemia MONDO:0011381 | AD | Definitive 2023-03-22 |
Dominant Beta-Thalassemia
untyped
|
| beta-thalassemia HBB/LCRB MONDO:0013517 | AR | Definitive 2023-04-26 |
no dismech entry |
| obsolete sickle cell disease and related diseases MONDO:0017146 | AR | Definitive 2023-08-23 |
no dismech entry |
| hemoglobin M disease MONDO:0018023 | AD | Definitive 2024-03-28 |
no dismech entry |
| unstable hemoglobin disease MONDO:0020459 | AD | Definitive 2024-02-28 |
no dismech entry |
| erythrocytosis, familial, 6 MONDO:0054801 | AD | Definitive 2023-09-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.