Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ECTODERMAL DYSPLASIA	C0013575 MESH:D004476	EDA	Causal	—	Disgenet
		EDAR	Causal	—	Disgenet
		WNT10A	Causal	—	Disgenet
		BMS1	Unknown	—	CTD Disgenet
		CTSC	Unknown	—	Disgenet
		GJB6	Unknown	—	CTD Disgenet
		ITGB4	Unknown	18348258	CTD Disgenet
		KRT16	Unknown	—	Disgenet
		KRT17	Unknown	—	Disgenet
		NECTIN1	Unknown	—	Disgenet
		PKP1	Unknown	—	Disgenet
		RANBP2	Unknown	—	Disgenet
		RHOA	Unknown	31570889	CTD Disgenet
		RIPK4	Unknown	—	Disgenet
		SMARCAD1	Unknown	—	Disgenet
		TP63	Unknown	—	Disgenet
ECTODERMAL DYSPLASIA 1, ANHIDROTIC	MESH:D053358	EDA	Unknown	—	CTD
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED	305100	EDA	Unknown	—	HPO
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	129490 C3888065 MONDO:0007509	EDAR	Causal	10431241 10431242 11035039 15013427 17125505 31245878	ClinVar Disgenet HPO
		EDARADD	Causal	—	ClinVar Disgenet HPO
		RANBP2	Unknown	—	Disgenet
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
		EDARADD	Unknown	—	ClinVar Disgenet HPO
		RANBP2	Unknown	—	Disgenet
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
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	C3539920 614941 MONDO:0013983	EDAR	Causal	—	Disgenet
		EDARADD	Causal	11780064 17354266 22013926 26991760	ClinVar Disgenet GWAS catalog HPO
		RANBP2	Unknown	—	Disgenet
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
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
ECTODERMAL DYSPLASIA 3, ANHIDROTIC	MESH:D053359	EDAR	Unknown	—	CTD
ECTODERMAL DYSPLASIA 3, ANHIDROTIC	MESH:D053359	EDARADD	Unknown	—	CTD
ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE	602032 MONDO:0011177 OMIM:602032	KRT85	Causal	16525032 19865094	CTD ClinVar HPO
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
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
ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY	MONDO:0010293	NFKBIA	Unknown	18412279	GWAS catalog
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1	300291 MONDO:0020740	IKBKG	Causal	15577852 15356572 11047757 117248 14726382 16228229 11242109 12045264 11224521 16818673	ClinVar GWAS catalog HPO
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
ECTODERMAL DYSPLASIA SYNDACTYLY SYNDROME	C4749852	NECTIN4	Unknown	—	Disgenet
ECTODERMAL DYSPLASIA SYNDROME	MONDO:0019287	CTSC	Unknown	11886537 18294227 20534088	GWAS catalog
		RIPK4	Unknown	—	GenCC
		SMARCAD1	Unknown	24909267 26932190 29409814 30289605	GWAS catalog
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES	618727 C5231477 MONDO:0032884	RHOA	Causal	—	ClinVar Disgenet GenCC HPO

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