Disease table of ECTODERMAL DYSPLASIA (SELECT EXAMPLES) OMIM ID: PS305100

Gene-disease associations table

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Gene	Associated with ECTODERMAL DYSPLASIA (SELECT EXAMPLES) in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
EDA	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq13.1	2	PS106600, PS305100
EDAR	ClinVar, OMIM, HUMSAVAR	HGNC link	2q13	2	PS305100, 612630
EDARADD	ClinVar, OMIM, HUMSAVAR	HGNC link	1q42.3	1	PS305100
GJB6	ClinVar, OMIM, HUMSAVAR	HGNC link	13q12.11	3	PS220290, PS305100, PS124900
HOXC13	ClinVar, OMIM	HGNC link	12q13.13	1	PS305100
KRT74	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.13	3	PS605389, PS305100, 194300
KRT85	ClinVar, OMIM, HUMSAVAR	HGNC link	12q13.13	1	PS305100
MSX1	ClinVar, OMIM	HGNC link	4p16.2	3	PS106600, PS305100, PS119530

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

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Common tandem group	Number of genes in this tandem group associated to this disease	Genes in this tandem group associated to this disease
Group 573	2	KRT85, KRT74

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Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
12q13.13	3	KRT85, HOXC13, KRT74

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
12q13	3	KRT85, HOXC13, KRT74

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
12q1	3	KRT85, HOXC13, KRT74

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
12q	3	KRT85, HOXC13, KRT74

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
12	3	KRT85, HOXC13, KRT74

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
HOXC13	YES	2	DSG4, SPI1	0
MSX1	YES	6	HEY1, DLK1, CGA, DKK1, NOTCH3, ZHX2	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
EDA	YES	1	LEF1	0
MSX1	YES	2	PHOX2B, FOXE1	0

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
EDARADD	EDAR	Yes	1	EDARADD
EDA	EDAR	Yes	0
EDARADD	EDA	No	1	EDAR

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
EDARADD	EDAR	Yes	binding	0
EDA	EDAR	Yes	activation	0
EDARADD	EDA	No	-	1	EDAR

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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

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Cytokine-cytokine receptor interaction	hsa04060	4.67	2	EDA, EDAR

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Cytokine-cytokine receptor interaction (hsa04060)	-	4.67	0.031	EDA, EDAR

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
TNFs bind their physiological receptors	R-HSA-5669034	8.34	3	EDA, EDAR, EDARADD
TNFR2 non-canonical NF-kB pathway	R-HSA-5668541	6.4	3	EDA, EDAR, EDARADD
Cytokine Signaling in Immune system	R-HSA-1280215	3.74	3	EDA, EDAR, EDARADD
Immune System	R-HSA-168256	2.37	3	EDA, EDAR, EDARADD

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
TNFs bind their physiological receptors (R-HSA-5669034)	-	8.34	0.0	EDA, EDAR, EDARADD
TNFR2 non-canonical NF-kB pathway (R-HSA-5668541)	-	6.4	0.0	EDA, EDAR, EDARADD
Cytokine Signaling in Immune system (R-HSA-1280215)	-	3.74	0.016	EDA, EDAR, EDARADD

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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
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding (GO:0001228)	3.98	2	HOXC13, MSX1
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding (GO:0000982)	3.94	2	HOXC13, MSX1
RNA polymerase II transcription factor activity, sequence-specific DNA binding (GO:0000981)	3.29	2	HOXC13, MSX1
structural molecule activity (GO:0005198)	3.1	2	KRT74, KRT85
sequence-specific DNA binding (GO:0043565)	2.79	2	HOXC13, MSX1
transcription factor activity, sequence-specific DNA binding (GO:0003700)	2.65	2	HOXC13, MSX1
nucleic acid binding transcription factor activity (GO:0001071)	2.65	2	HOXC13, MSX1
macromolecular complex binding (GO:0044877)	2.61	2	KRT74, HOXC13
DNA binding (GO:0003677)	1.92	2	HOXC13, MSX1
nucleic acid binding (GO:0003676)	1.44	2	HOXC13, MSX1

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
tube lumen cavitation (GO:0060605)	8.12	2	EDA, EDAR
salivary gland cavitation (GO:0060662)	8.12	2	EDA, EDAR
positive regulation of NF-kappaB import into nucleus (GO:0042346)	6.43	2	EDA, EDAR
hair follicle development (GO:0001942)	6.02	3	EDA, HOXC13, EDAR
pigmentation (GO:0043473)	5.9	2	EDA, EDAR
regulation of NF-kappaB import into nucleus (GO:0042345)	5.86	2	EDA, EDAR
positive regulation of transcription factor import into nucleus (GO:0042993)	5.78	2	EDA, EDAR
sensory organ morphogenesis (GO:0090596)	5.72	2	HOXC13, GJB6
molting cycle process (GO:0022404)	5.54	3	EDA, HOXC13, EDAR
hair cycle process (GO:0022405)	5.54	3	EDA, HOXC13, EDAR

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
trachea gland development (GO:0061153)	NEW	9.04	0.0	EDA, EDAR, EDARADD
tube lumen cavitation (GO:0060605)	-	8.12	0.001	EDA, EDAR
salivary gland cavitation (GO:0060662)	-	8.12	0.001	EDA, EDAR
positive regulation of NF-kappaB import into nucleus (GO:0042346)	-	6.43	0.013	EDA, EDAR, EDARADD
hair follicle development (GO:0001942)	-	6.02	0.0	EDA, HOXC13, EDAR, EDARADD
pigmentation (GO:0043473)	-	5.9	0.035	EDA, EDAR
regulation of NF-kappaB import into nucleus (GO:0042345)	-	5.86	0.004	EDA, EDAR, EDARADD
positive regulation of transcription factor import into nucleus (GO:0042993)	-	5.78	0.004	EDA, EDAR, EDARADD
hair cycle process (GO:0022405)	-	5.54	0.001	EDA, HOXC13, EDAR, EDARADD
molting cycle process (GO:0022404)	-	5.54	0.001	EDA, HOXC13, EDAR, EDARADD

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
apical part of cell (GO:0045177)	5.34	2	EDA, EDAR
keratin filament (GO:0045095)	5.21	2	KRT74, KRT85
intermediate filament (GO:0005882)	4.48	2	KRT74, KRT85
supramolecular fiber (GO:0099512)	3.31	2	KRT74, KRT85
polymeric cytoskeletal fiber (GO:0099513)	3.31	2	KRT74, KRT85
cytoskeletal part (GO:0044430)	2.49	2	KRT74, KRT85
plasma membrane part (GO:0044459)	1.95	2	EDA, GJB6
cytosol (GO:0005829)	1.68	2	GJB6, EDARADD
extracellular region part (GO:0044421)	1.57	2	KRT74, KRT85
protein complex (GO:0043234)	1.51	3	EDA, GJB6, EDARADD

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
apical part of cell (GO:0045177)	-	5.34	0.025	EDA, EDAR, EDARADD
keratin filament (GO:0045095)	-	5.21	0.033	KRT74, KRT85

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