Disease table of ANEMIA, SIDEROBLASTIC OMIM ID: PS300751

Gene-disease associations table

GeneAssociated with ANEMIA, SIDEROBLASTIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GLRX5ClinVar, OMIM, HUMSAVARHGNC link14q32.132616859, PS300751
ALAS2ClinVar, OMIM, HUMSAVARHGNC linkXp11.212300752, PS300751
HSPA9OMIMHGNC link5q31.22PS300751, 616854
SLC25A38ClinVar, OMIM, HUMSAVARHGNC link3p22.11PS300751

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ALAS2YES1HIF1A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
GLRX5HSPA9No1APP
ALAS2HSPA9No1GRB2

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Porphyrin and chlorophyll metabolism (hsa00860) NEW7.410.001HSPA9, ALAS2
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183ALAS2, GLRX5, HSPA9
catalytic activity (GO:0003824) 1.052ALAS2, GLRX5
protein binding (GO:0005515) 0.462ALAS2, HSPA9
ion binding (GO:0043167) 1.362ALAS2, GLRX5

NET-GE enrichment

Term New enriched termICP valueGenes
iron-sulfur cluster binding (GO:0051536) NEW5.550.021HSPA9, GLRX5
metal cluster binding (GO:0051540) NEW5.550.021HSPA9, GLRX5
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.264ALAS2, GLRX5, HSPA9, SLC25A38
single-organism process (GO:0044699) 0.484HSPA9, GLRX5, ALAS2, SLC25A38
single-organism cellular process (GO:0044763) 0.653ALAS2, GLRX5, SLC25A38
single-organism metabolic process (GO:0044710) 1.633ALAS2, GLRX5, SLC25A38
biological regulation (GO:0065007) 0.393HSPA9, GLRX5, ALAS2
metabolic process (GO:0008152) 0.583ALAS2, GLRX5, SLC25A38
developmental process (GO:0032502) 1.362HSPA9, GLRX5
cell differentiation (GO:0030154) 2.142ALAS2, SLC25A38
porphyrin-containing compound metabolic process (GO:0006778) 6.092ALAS2, SLC25A38
porphyrin-containing compound biosynthetic process (GO:0006779) 6.472ALAS2, SLC25A38
homeostatic process (GO:0042592) 2.612ALAS2, GLRX5
cellular biosynthetic process (GO:0044249) 1.372ALAS2, SLC25A38
cellular nitrogen compound metabolic process (GO:0034641) 1.222ALAS2, SLC25A38
nitrogen compound metabolic process (GO:0006807) 1.132ALAS2, SLC25A38
cellular macromolecule biosynthetic process (GO:0034645) 1.662ALAS2, SLC25A38
organic cyclic compound biosynthetic process (GO:1901362) 1.662ALAS2, SLC25A38
regulation of biological process (GO:0050789) 0.452HSPA9, GLRX5
organic cyclic compound metabolic process (GO:1901360) 1.262ALAS2, SLC25A38
organic substance biosynthetic process (GO:1901576) 1.342ALAS2, SLC25A38
single-organism biosynthetic process (GO:0044711) 2.82ALAS2, SLC25A38
pigment metabolic process (GO:0042440) 5.592ALAS2, SLC25A38
cellular macromolecule metabolic process (GO:0044260) 0.932ALAS2, SLC25A38
heme biosynthetic process (GO:0006783) 6.682ALAS2, SLC25A38
cellular developmental process (GO:0048869) 1.822ALAS2, SLC25A38
cofactor biosynthetic process (GO:0051188) 4.622ALAS2, SLC25A38
localization (GO:0051179) 1.42HSPA9, SLC25A38
organic substance metabolic process (GO:0071704) 0.632ALAS2, SLC25A38
tetrapyrrole biosynthetic process (GO:0033014) 6.362ALAS2, SLC25A38
tetrapyrrole metabolic process (GO:0033013) 5.652ALAS2, SLC25A38
hematopoietic or lymphoid organ development (GO:0048534) 4.492HSPA9, GLRX5
regulation of biological quality (GO:0065008) 1.682ALAS2, GLRX5
heterocycle biosynthetic process (GO:0018130) 1.72ALAS2, SLC25A38
cellular homeostasis (GO:0019725) 3.232ALAS2, GLRX5
heme metabolic process (GO:0042168) 6.332ALAS2, SLC25A38
erythrocyte differentiation (GO:0030218) 5.882ALAS2, SLC25A38
transport (GO:0006810) 1.512HSPA9, SLC25A38
cellular aromatic compound metabolic process (GO:0006725) 1.32ALAS2, SLC25A38
regulation of cellular process (GO:0050794) 0.52HSPA9, GLRX5
single-organism developmental process (GO:0044767) 1.492HSPA9, GLRX5
biosynthetic process (GO:0009058) 1.322ALAS2, SLC25A38
cofactor metabolic process (GO:0051186) 3.912ALAS2, SLC25A38
hemopoiesis (GO:0030097) 5.072HSPA9, GLRX5
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592ALAS2, SLC25A38
establishment of localization (GO:0051234) 1.482HSPA9, SLC25A38
pigment biosynthetic process (GO:0046148) 5.862ALAS2, SLC25A38
heterocycle metabolic process (GO:0046483) 1.312ALAS2, SLC25A38
animal organ development (GO:0048513) 2.532HSPA9, GLRX5
organonitrogen compound metabolic process (GO:1901564) 2.322ALAS2, SLC25A38
organonitrogen compound biosynthetic process (GO:1901566) 2.852ALAS2, SLC25A38
response to stimulus (GO:0050896) 1.222HSPA9, ALAS2
anatomical structure development (GO:0048856) 1.582HSPA9, GLRX5
cellular metabolic process (GO:0044237) 0.692ALAS2, SLC25A38
macromolecule metabolic process (GO:0043170) 0.832ALAS2, SLC25A38
macromolecule biosynthetic process (GO:0009059) 1.612ALAS2, SLC25A38
myeloid cell differentiation (GO:0030099) 4.632ALAS2, SLC25A38
aromatic compound biosynthetic process (GO:0019438) 1.72ALAS2, SLC25A38

NET-GE enrichment

Term New enriched termICP valueGenes
heme metabolic process (GO:0042168) -6.330.0ALAS2, HSPA9, SLC25A38
pigment metabolic process (GO:0042440) -5.590.0HSPA9, ALAS2, SLC25A38
erythrocyte differentiation (GO:0030218) -5.880.004ALAS2, SLC25A38
cofactor biosynthetic process (GO:0051188) -4.620.005ALAS2, HSPA9, SLC25A38
porphyrin-containing compound metabolic process (GO:0006778) -6.090.0HSPA9, ALAS2, SLC25A38
porphyrin-containing compound biosynthetic process (GO:0006779) -6.470.002ALAS2, HSPA9, SLC25A38
heme biosynthetic process (GO:0006783) -6.680.001HSPA9, ALAS2, SLC25A38
tetrapyrrole biosynthetic process (GO:0033014) -6.360.002HSPA9, ALAS2, SLC25A38
tetrapyrrole metabolic process (GO:0033013) -5.650.0ALAS2, HSPA9, SLC25A38
cofactor metabolic process (GO:0051186) -3.910.047HSPA9, ALAS2, SLC25A38
myeloid cell differentiation (GO:0030099) -4.630.046ALAS2, SLC25A38
pigment biosynthetic process (GO:0046148) -5.860.004HSPA9, ALAS2, SLC25A38
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.64ALAS2, GLRX5, HSPA9, SLC25A38
cell part (GO:0044464) 0.114HSPA9, GLRX5, ALAS2, SLC25A38
cytoplasmic part (GO:0044444) 0.824ALAS2, GLRX5, HSPA9, SLC25A38
mitochondrion (GO:0005739) 2.424ALAS2, GLRX5, HSPA9, SLC25A38
intracellular organelle part (GO:0044446) 0.814HSPA9, GLRX5, ALAS2, SLC25A38
intracellular organelle (GO:0043229) 0.514HSPA9, GLRX5, ALAS2, SLC25A38
mitochondrial part (GO:0044429) 2.924ALAS2, GLRX5, HSPA9, SLC25A38
intracellular part (GO:0044424) 0.284ALAS2, GLRX5, HSPA9, SLC25A38
membrane-bounded organelle (GO:0043227) 0.474HSPA9, GLRX5, ALAS2, SLC25A38
organelle (GO:0043226) 0.44HSPA9, GLRX5, ALAS2, SLC25A38
organelle part (GO:0044422) 0.794ALAS2, GLRX5, HSPA9, SLC25A38
organelle membrane (GO:0031090) 1.972ALAS2, SLC25A38
organelle lumen (GO:0043233) 3.052ALAS2, GLRX5
nucleus (GO:0005634) 1.072HSPA9, GLRX5
membrane (GO:0016020) 0.682ALAS2, SLC25A38
organelle inner membrane (GO:0019866) 3.562ALAS2, SLC25A38
membrane-enclosed lumen (GO:0031974) 3.052ALAS2, GLRX5
mitochondrial membrane (GO:0031966) 3.312ALAS2, SLC25A38
intracellular organelle lumen (GO:0070013) 3.052ALAS2, GLRX5
mitochondrial matrix (GO:0005759) 4.032ALAS2, GLRX5
mitochondrial inner membrane (GO:0005743) 3.652ALAS2, SLC25A38

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial inner membrane (GO:0005743) -3.650.008ALAS2, HSPA9, SLC25A38
organelle inner membrane (GO:0019866) -3.560.012HSPA9, ALAS2, SLC25A38
mitochondrial part (GO:0044429) -2.920.014ALAS2, HSPA9, SLC25A38
mitochondrion (GO:0005739) -2.420.047HSPA9, GLRX5, ALAS2
mitochondrial membrane (GO:0031966) -3.310.034ALAS2, HSPA9, SLC25A38