|
ANEMIA, SIDEROBLASTIC |
|
ABCB7
|
Unknown |
|
CTD
|
|
ALAS2
|
Unknown |
|
CTD
|
|
GDF15
|
Unknown |
|
CTD
|
|
GLRX5
|
Unknown |
|
CTD
|
|
HSPA9
|
Unknown |
—
|
CTD
|
|
SLC25A38
|
Unknown |
|
CTD
|
|
SOD2
|
Unknown |
|
CTD
|
|
ANEMIA, SIDEROBLASTIC SPINOCEREBELLAR ATAXIA |
|
ABCB7
|
Unknown |
|
CTD
|
|
ANEMIA, SIDEROBLASTIC, 1 |
|
ALAS2
|
Unknown |
—
|
HPO
|
|
ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET |
|
ALAS2
|
Unknown |
—
|
Disgenet
|
|
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY |
|
GLRX5
|
Unknown |
—
|
Disgenet
|
|
SLC25A38
|
Unknown |
—
|
Disgenet
HPO
|
|
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY |
|
GLRX5
|
Unknown |
—
|
Disgenet
HPO
|
|
ANEMIA, SIDEROBLASTIC, 4 |
|
HSPA9
|
Unknown |
—
|
Disgenet
HPO
|
|
ANEMIA, SIDEROBLASTIC, 5 |
|
HSCB
|
Causal |
|
ClinVar
Disgenet
HPO
|
|
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA |
|
ABCB7
|
Unknown |
—
|
Disgenet
|
|
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
|
GLRX5
|
Unknown |
—
|
CTD
|
|
SLC25A38
|
Unknown |
—
|
CTD
|
|
AUTOSOMAL DOMINANT SIDEROBLASTIC ANEMIA |
|
HSPA9
|
Causal |
|
ClinVar
GWAS catalog
|
|
AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA |
|
ARSA
|
Unknown |
—
|
Disgenet
|
|
HSPA9
|
Unknown |
|
Disgenet
GWAS catalog
Orphanet
|
|
SLC25A38
|
Unknown |
|
Disgenet
Orphanet
|
|
SIDEROBLASTIC ANEMIA |
|
ABCB7
|
Unknown |
—
|
Disgenet
|
|
ALAS2
|
Unknown |
—
|
Disgenet
|
|
CALR
|
Unknown |
—
|
Disgenet
|
|
GDF15
|
Unknown |
—
|
Disgenet
|
|
GLRX5
|
Unknown |
—
|
Disgenet
|
|
HSPA9
|
Unknown |
—
|
Disgenet
|
|
SLC25A38
|
Unknown |
—
|
Disgenet
|
|
SOD2
|
Unknown |
—
|
Disgenet
|
|
SIDEROBLASTIC ANEMIA 2 |
|
SLC25A38
|
Causal |
|
CTD
ClinVar
|
|
SIDEROBLASTIC ANEMIA 3 |
|
GLRX5
|
Causal |
—
|
ClinVar
GenCC
|
|
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY |
|
TRNT1
|
Unknown |
—
|
Disgenet
HPO
|