Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ECTODERMAL DYSPLASIA	C0013575 MESH:D004476	EDA	Causal	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		EDAR	Causal	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		WNT10A	Causal	—	Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
		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	129490 C3888065 MONDO:0007509	EDAR	Causal	10431241 10431242 11035039 15013427 17125505 31245878	ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		EDARADD	Causal	—	ClinVar, Disgenet, HPO	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
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	224900 C3887494 MONDO:0009147	EDAR	Causal	18231121 20979233 10431241 16435307 15373768 16029325 17501952 18816645 19551394 20033817 20199431 21771270 21876339 23210707 24764207 28357203 31310406 32819890	ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		EDARADD	Unknown	—	ClinVar, Disgenet, HPO	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
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	614940 C3541517 MONDO:0013982 OMIM:614940	EDARADD	Causal	11780064 17354266 20477971 20979233 21626677 24666190 26440664	CTD, ClinVar, Disgenet, HPO	NF-kappa B signaling pathway TNFs bind their physiological receptors
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	C3539920 614941 MONDO:0013983	EDAR	Causal	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway TNFs bind their physiological receptors
		EDARADD	Causal	11780064 17354266 22013926 26991760	ClinVar, Disgenet, GWAS catalog, HPO	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
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE	617337 C4310616 MONDO:0015024 OMIM:617337	KDF1	Causal	24075906 27838789 30384154 30977908 32239614 35641834 36293320 37144643 38501196 40554824	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE	617392 C4479322 MONDO:0044305 OMIM:617392	KREMEN1	Causal	17162372 249534 27049303 29526031	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Negative regulation of TCF-dependent signaling by WNT ligand antagonists Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS	MONDO:0032584	TSPEAR	Causal	27736875 30046887 34042254	ClinVar, GWAS catalog	—
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 15, HYPOHIDROTIC/HAIR TYPE	618535 C5193145 MONDO:0032804	CST6	Causal	30425301 36371786	ClinVar, Disgenet, GWAS catalog, HPO	—
ECTODERMAL DYSPLASIA 17 WITH OR WITHOUT LIMB MALFORMATIONS	621224	LEF1	Causal	—	ClinVar	Wnt signaling pathway Hippo signaling pathway Adherens junction +24 more
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	602032 MONDO:0011177 OMIM:602032	KRT85	Causal	16525032 19865094	CTD, ClinVar, HPO	Keratinization Formation of the cornified envelope
ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE	602032 MONDO:0011177 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 9, HAIR/NAIL TYPE	614931 C3554127 MONDO:0013976 OMIM:614931	HOXC13	Causal	23315978 23063621 28403827	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
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 AND IMMUNODEFICIENCY 1	300291 MONDO:0020740	IKBKG	Causal	15577852 15356572 11047757 117248 14726382 16228229 11242109 12045264 11224521 16818673	ClinVar, GWAS catalog, HPO	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2	612132 MONDO:0012806	NFKBIA	Causal	14523047 15337789 17931563 18412279 22078572 23708964 23864385 23870671 25601653 26691317 28417298 28629746 29948576 31683054 32222431 35005117 36292785	ClinGen, ClinVar, GWAS catalog, HPO	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 WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES	618727 C5231477 MONDO:0032884	RHOA	Causal	—	ClinVar, Disgenet, GenCC, HPO	Ras signaling pathway Rap1 signaling pathway cGMP-PKG signaling pathway +64 more
ECTODERMAL DYSPLASIA WNT10A RELATED	MONDO:0100358	WNT10A	Causal	19559398 20979233 22581971 23401279 25629078 26964878 29178643 31468502 31796081 33529166	ClinGen, Disgenet	mTOR signaling pathway Wnt signaling pathway Hippo signaling pathway +13 more
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-SYNDACTYLY SYNDROME 1	613573 C3150807 MONDO:0024565 OMIM:613573	NECTIN4	Causal	21346770 20691405 1646587	CTD, ClinVar, Disgenet, GWAS catalog, HPO	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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