Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ECTODERMAL DYSPLASIA	C0013575 MESH:D004476	BMS1	Unknown	—	CTD, Disgenet	Ribosome biogenesis in eukaryotes Major pathway of rRNA processing in the nucleolus and cytosol
		CTSC	Unknown	—	Disgenet	Lysosome Apoptosis COPII-mediated vesicle transport +3 more
		GJB6	Unknown	—	CTD, Disgenet	Gap junction assembly
		ITGB4	Unknown	18348258	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		KRT16	Unknown	—	Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Keratinization +1 more
		KRT17	Unknown	—	Disgenet	Estrogen signaling pathway Staphylococcus aureus infection Keratinization +1 more
		NECTIN1	Unknown	—	Disgenet	Virion - Herpesvirus Cell adhesion molecules Adherens junction +3 more
		PKP1	Unknown	—	Disgenet	Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization +1 more
		RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
		RHOA	Unknown	31570889	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway cGMP-PKG signaling pathway +64 more
		RIPK4	Unknown	—	Disgenet	—
		SMARCAD1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells
		TP63	Unknown	—	Disgenet	MicroRNAs in cancer Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic Genes +5 more
ECTODERMAL DYSPLASIA 1, ANHIDROTIC	MESH:D053358	EDA	Unknown	—	CTD	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED	305100	EDA	Unknown	12949972 17066260 19264582 19921643 8696334 9507389 9683615 9856856	HPO	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	C3888065	RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	224900 C3887494 MONDO:0009147	EDARADD	Unknown	—	ClinVar, Disgenet, HPO	NF-kappa B signaling pathway TNFs bind their physiological receptors
	224900 C3887494 MONDO:0009147	RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	C3539920	RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH OR WITHOUT HYPOHIDROSIS	C4748560	TSPEAR	Unknown	—	Disgenet	—
ECTODERMAL DYSPLASIA 14, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE	618180	TSPEAR	Unknown	—	HPO	—
ECTODERMAL DYSPLASIA 3, ANHIDROTIC	MESH:D053359	EDAR	Unknown	—	CTD	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
ECTODERMAL DYSPLASIA 3, ANHIDROTIC	MESH:D053359	EDARADD	Unknown	—	CTD	NF-kappa B signaling pathway TNFs bind their physiological receptors
ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE	OMIM:602032	HOXC13	Unknown	24239177	CTD	—
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE	614929 C3554117 MONDO:0013975 OMIM:614929	KRT74	Unknown	—	CTD, ClinVar, Disgenet, HPO	Keratinization Formation of the cornified envelope
ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY	MONDO:0010293	IKBKG	Unknown	—	GenCC	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY	MONDO:0010293	NFKBIA	Unknown	18412279	GWAS catalog	cAMP signaling pathway Chemokine signaling pathway NF-kappa B signaling pathway +58 more
ECTODERMAL DYSPLASIA SYNDACTYLY SYNDROME	C4749852	NECTIN4	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Adherens junction Adherens junctions interactions +1 more
ECTODERMAL DYSPLASIA SYNDROME	MONDO:0019287	CTSC	Unknown	11886537 18294227 20534088	GWAS catalog	Lysosome Apoptosis COPII-mediated vesicle transport +3 more
		RIPK4	Unknown	—	GenCC	—
		SMARCAD1	Unknown	24909267 26932190 29409814 30289605	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	C2677481 MESH:C567411	NFKBIA	Unknown	—	CTD, Disgenet	cAMP signaling pathway Chemokine signaling pathway NF-kappa B signaling pathway +58 more
ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY	C1857041 MESH:C536190	CDH3	Unknown	—	CTD, Disgenet	Cell adhesion molecules Adherens junctions interactions
ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME	225280	CDH3	Unknown	—	HPO	Cell adhesion molecules Adherens junctions interactions
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	C0406702 MESH:D053360	CSTB	Unknown	—	Disgenet	Neutrophil degranulation
		EDAR	Unknown	—	CTD, Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		EDARADD	Unknown	—	CTD, Disgenet	NF-kappa B signaling pathway TNFs bind their physiological receptors
		RANBP2	Unknown	—	Disgenet	Nucleocytoplasmic transport Viral life cycle - HIV-1 Amyotrophic lateral sclerosis +32 more
		WNT10A	Unknown	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	C1846006 MESH:C536181	IKBKG	Unknown	—	CTD, Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY	C1846006 MESH:C536181	NFKBIA	Unknown	—	Disgenet	cAMP signaling pathway Chemokine signaling pathway NF-kappa B signaling pathway +58 more
ECTODERMAL DYSPLASIA-PILI TORTI-CUTANEOUS SYNDACTYLY SYNDROME	247820	NECTIN4	Unknown	20691405 21346770	Orphanet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Adherens junction Adherens junctions interactions +1 more
ECTODERMAL DYSPLASIA-SKIN FRAGILITY SYNDROME	C1858302 158668 MESH:C536183	DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
ECTODERMAL DYSPLASIA-SKIN FRAGILITY SYNDROME	C1858302 158668 MESH:C536183	PKP1	Unknown	19945625	CTD, Disgenet, Orphanet	Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization +1 more
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME	MONDO:0013311	NECTIN4	Unknown	20691405 21346770	GWAS catalog	Virion - Ebolavirus, Lyssavirus and Morbillivirus Adherens junction Adherens junctions interactions +1 more
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	616029 OMIM:616029	GRHL2	Unknown	—	CTD, HPO	—
ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME	604536	PKP1	Unknown	—	HPO	Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization +1 more

Ectodermal dysplasia

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