Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ECTODERMAL DYSPLASIA	C0013575	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
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
	129490 C3888065 MONDO:0007509	EDARADD	Causal	—	ClinVar, Disgenet, HPO	NF-kappa B signaling pathway TNFs bind their physiological receptors
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
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
	C3539920 614941 MONDO:0013983	EDARADD	Causal	11780064 17354266 22013926 26991760	ClinVar, Disgenet, GWAS catalog, HPO	NF-kappa B signaling pathway TNFs bind their physiological receptors
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 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 4, HAIR/NAIL TYPE	602032 MONDO:0011177 OMIM:602032	KRT85	Causal	16525032 19865094	CTD, ClinVar, 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 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 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-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

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