Disease table of ANEMIA, CONGENITAL DYSERYTHROPOIETIC OMIM ID: PS224120

Gene-disease associations table

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Gene	Associated with ANEMIA, CONGENITAL DYSERYTHROPOIETIC in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
C15orf41	ClinVar, OMIM, HUMSAVAR	HGNC link	15q14	1	PS224120
CDAN1	ClinVar, OMIM, HUMSAVAR	HGNC link	15q15.2	1	PS224120
KLF1	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.13	3	111150, PS224120, 613566
SEC23B	ClinVar, OMIM, HUMSAVAR	HGNC link	20p11.23	2	PS224120, PS158350

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
15q1	2	C15orf41, CDAN1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
15q	2	C15orf41, CDAN1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
15	2	C15orf41, CDAN1

Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
KLF1	YES	2	HBB, IL12B	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
CDAN1	YES	1	E2F1	0
KLF1	YES	1	GATA1	0

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Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
CDAN1	C15orf41	No	3	HIST1H3A, ASF1A, ASF1B

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
SEC23B	KLF1	No	-	1	UBC

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
metal ion binding (GO:0046872)	1.41	2	SEC23B, KLF1
cation binding (GO:0043169)	1.4	2	KLF1, SEC23B
ion binding (GO:0043167)	1.36	2	SEC23B, KLF1
protein binding (GO:0005515)	0.46	2	SEC23B, CDAN1
binding (GO:0005488)	0.18	3	KLF1, SEC23B, CDAN1

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GO - biological process annotation: shared terms (no NET-GE enrichment)

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GO	IC	Number of genes with the same GO	Genes
protein localization (GO:0008104)	2.36	2	SEC23B, CDAN1
macromolecule localization (GO:0033036)	2.34	2	SEC23B, CDAN1
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	KLF1, CDAN1
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	KLF1, CDAN1
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	KLF1, CDAN1
localization (GO:0051179)	1.4	2	SEC23B, CDAN1
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	KLF1, CDAN1
regulation of biosynthetic process (GO:0009889)	1.37	2	KLF1, CDAN1
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	KLF1, CDAN1
regulation of primary metabolic process (GO:0080090)	1.08	2	KLF1, CDAN1

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GO - cellular component annotation: shared terms / NET-GE enrichment

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GO	IC	Number of genes with the same GO	Genes
endomembrane system (GO:0012505)	4.84	2	SEC23B, CDAN1
macromolecular complex (GO:0032991)	1.35	2	KLF1, SEC23B
nucleus (GO:0005634)	1.07	2	KLF1, CDAN1
membrane part (GO:0044425)	0.95	2	SEC23B, CDAN1
intracellular organelle part (GO:0044446)	0.81	2	SEC23B, KLF1
organelle part (GO:0044422)	0.79	2	SEC23B, KLF1
membrane (GO:0016020)	0.68	2	SEC23B, CDAN1
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	KLF1, SEC23B, CDAN1
intracellular organelle (GO:0043229)	0.51	3	KLF1, SEC23B, CDAN1
membrane-bounded organelle (GO:0043227)	0.47	3	KLF1, SEC23B, CDAN1

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