Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ANEMIA, SIDEROBLASTIC	MESH:D000756	ABCB7	Unknown	16892088 18637800	CTD	ABC transporters Mitochondrial ABC transporters
		ALAS2	Unknown	16716198 16892088	CTD	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more
		GDF15	Unknown	19036111	CTD	Cytokine-cytokine receptor interaction
		GLRX5	Unknown	18637800	CTD	Mitochondrial iron-sulfur cluster biogenesis
		HSPA9	Unknown	—	CTD	RNA degradation Tuberculosis Regulation of HSF1-mediated heat shock response +1 more
		SLC25A38	Unknown	19412178	CTD	—
		SOD2	Unknown	16910769 21326867	CTD	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
ANEMIA, SIDEROBLASTIC SPINOCEREBELLAR ATAXIA	MESH:C536358	ABCB7	Unknown	21326867	CTD	ABC transporters Mitochondrial ABC transporters
ANEMIA, SIDEROBLASTIC, 1	300751	ALAS2	Unknown	—	HPO	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more
ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET	C4225593	ALAS2	Unknown	—	Disgenet	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY	C4225425 205950	GLRX5	Unknown	—	Disgenet	Mitochondrial iron-sulfur cluster biogenesis
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY	C4225425 205950	SLC25A38	Unknown	—	Disgenet, HPO	—
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY	616860 C4225155	GLRX5	Unknown	—	Disgenet, HPO	Mitochondrial iron-sulfur cluster biogenesis
ANEMIA, SIDEROBLASTIC, 4	182170 C4225428	HSPA9	Unknown	—	Disgenet, HPO	RNA degradation Tuberculosis Regulation of HSF1-mediated heat shock response +1 more
ANEMIA, SIDEROBLASTIC, 5	619523 C5561985 MONDO:0030436	HSCB	Causal	32634119	ClinVar, Disgenet, HPO	Mitochondrial protein import Mitochondrial iron-sulfur cluster biogenesis
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	C1845028	ABCB7	Unknown	—	Disgenet	ABC transporters Mitochondrial ABC transporters
ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE	MESH:C567145	GLRX5	Unknown	—	CTD	Mitochondrial iron-sulfur cluster biogenesis
	MESH:C567145	SLC25A38	Unknown	—	CTD	—
AUTOSOMAL DOMINANT SIDEROBLASTIC ANEMIA	MONDO:0008422	HSPA9	Causal	21123823 26491070	ClinVar, GWAS catalog	RNA degradation Tuberculosis Regulation of HSF1-mediated heat shock response +1 more
AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA	C4274077 260305 MONDO:0016828	ARSA	Unknown	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
		HSPA9	Unknown	26491070	Disgenet, GWAS catalog, Orphanet	RNA degradation Tuberculosis Regulation of HSF1-mediated heat shock response +1 more
		SLC25A38	Unknown	19412178	Disgenet, Orphanet	—
SIDEROBLASTIC ANEMIA	C0002896	ABCB7	Unknown	—	Disgenet	ABC transporters Mitochondrial ABC transporters
		ALAS2	Unknown	—	Disgenet	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways +2 more
		CALR	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Phagosome Efferocytosis +14 more
		GDF15	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction
		GLRX5	Unknown	—	Disgenet	Mitochondrial iron-sulfur cluster biogenesis
		HSPA9	Unknown	—	Disgenet	RNA degradation Tuberculosis Regulation of HSF1-mediated heat shock response +1 more
		SLC25A38	Unknown	—	Disgenet	—
		SOD2	Unknown	—	Disgenet	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
SIDEROBLASTIC ANEMIA 2	MONDO:0008785	SLC25A38	Causal	19412178	CTD, ClinVar	—
SIDEROBLASTIC ANEMIA 3	MONDO:0014804	GLRX5	Causal	—	ClinVar, GenCC	Mitochondrial iron-sulfur cluster biogenesis
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY	616084 C4015172	TRNT1	Unknown	—	Disgenet, HPO	tRNA processing in the nucleus tRNA processing in the mitochondrion

Sideroblastic anemia

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