Ectodermal Dysplasia malady

NIH Rare Diseases: Ectodermal dysplasias (ED) are a group of about 150 heritable disorders that affect the ectoderm, a layer of tissue that contributes to the formation of many parts of the body, including the skin, sweat glands, hair, teeth, and nails. Symptoms can range from mild to severe and may include dental abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of ectodermal dysplasias are caused by mutations in different genes, and can be inherited in a variety of ways. There are no cures for ED, but many treatments are available to address the individual symptoms.³⁰

MalaCards: Ectodermal Dysplasia is related to hypohidrotic ectodermal dysplasia and clouston syndrome. An important gene associated with Ectodermal Dysplasia is EDA (ectodysplasin A), and among its related pathways are Bacterial infections in CF airways and RANK Signaling in Osteoclasts. The compounds sp 600125 and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include skin, thymus and salivary gland, and related mouse phenotypes are liver/biliary system and respiratory system.

Wikipedia: Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities...⁴⁴ more...

ectodermal dysplasia 7 30 17 32 43

Diseases related to ectodermal dysplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 296)

id	Related Disease	Score	Top Affiliating Genes
1	hypohidrotic ectodermal dysplasia	38.7	CHUK, FURIN, IRAK4, IKBKG, NFKBIA, EDA
2	clouston syndrome	35.9	GJB2, GJB6, TUBA3C
3	ectrodactyly	33.5	CDH3, TP63, PRL, EEC1, EEC2
4	immunodeficiency	32.1	INHA, IL18, CASP10, AIRE, TRAF3, TNF
5	hypodontia	30.3	PAX9, MSX1, IRF6, FGF10, FGFR2, FGFR3
6	cleft lip	29.7	PAX9, MSX1, IRF6, FGF10, FGFR2, TP63
7	syndactyly	29.5	FGF10, FGFR2, FGFR3, GJA1, TP63, DLX2
8	ichthyosis	29.3	GJB2, GJB3, GJB6, KRT16, KRT17, KRT14
9	palmoplantar keratosis	29.3	GJA1, GJB2, GJB3, KRT16, KRT17
10	hodgkin's lymphoma	28.5	CHUK, FGFR3, TRAF1, TRAF2, TRAF3, TNFRSF1A
11	wells syndrome	28.2	FGFR2, IL1B, TP63, TNFRSF1A
12	breast cancer	28.1	UBC, GJA1, GJB2, NFKBIA, KRT14, TAT
13	tooth agenesis	28.1	PAX9, MSX1, CDH3, IRF6, TNF, DLX2
14	twinning	26.6	PAX9, IRF6, INHA, FGFR2, FGFR3, TNF
15	keratitis	25.5	IL18, IL1B, GJA1, GJB2, GJB6, TNF
16	non-hodgkin lymphoma	24.3	NCF2, LEF1, CHUK, IL1B, CASP10, CASP8
17	dfnb1	13.9	GJB2, GJB6, TUBA3C
18	hypohidrosis	13.9	TP63, PKP1, KRT14, EDA, EDAR, EDARADD
19	kid syndrome	13.8	GJB2, GJB3, GJB4, GJB6
20	pseudoainhum	13.8	GJB2, GJB3, GJB4, GJB6
21	erythrokeratodermia variabilis	13.8	GJB2, GJB3, GJB4, GJB6
22	pachyonychia congenita	13.8	KRT16, KRT17, KRT6B
23	oligodontia	13.8	PAX9, MSX1, DLX2, EDA, EDARADD
24	keratoacanthoma	13.7	IKBKG, TP63, KRT16, KRT17, KRT14
25	skin disease	13.7	GJB3, GJB4, PKP1, KRT6A, KRT6B
26	monilethrix	13.7	KRT16, KRT6A, KRT17, KRT6B
27	epidermolytic hyperkeratosis	13.7	GJB2, GJB3, KRT16, KRT14
28	birth defects	13.7	MSX1, IRF6, TP63, PVRL1
29	amelogenesis imperfecta	13.7	MSX1, TP63, DLX3, COL17A1
30	cd40 deficiency	13.6	TRAF2, TRAF5, TRAF6
31	breast metaplastic carcinoma	13.5	CDH3, TP63, KRT14
32	basal cell carcinoma	13.5	CDH3, TP63, COL17A1, KRT16, KRT17
33	epidermolysis bullosa simplex	13.5	COL17A1, KRT16, KRT6A, KRT17, KRT6B, KRT14
34	epidermolysis bullosa	13.5	COL17A1, PKP1, KRT6A, KRT17, KRT14
35	hypotrichosis	13.4	CDH3, GJA1, GJB2, GJB3, GJB4, KRT85
36	herpes gestationis	13.4	TNFRSF1A, COL17A1, PVRL1, TAT
37	dental enamel hypoplasia	13.4	GJA1, DLX3, COL17A1
38	autosomal dominant disease	13.3	FGFR3, GJB2, PKP2, DSC2
39	arachnoiditis	13.3	GJA1, GJB2, PKP2, DSC2
40	salivary gland cancer	13.3	CHUK, MAP3K14, CASP8, NFKBIA
41	cylindromatosis	13.2	UBC, MAP3K7, IKBKG, TRAF2, TRAF6
42	skin benign neoplasm	13.2	FGFR3, GJA1, TP63, KRT14
43	bowen syndrome	13.1	KRT16, KRT17, KRT14
44	ladd syndrome	13.1	FGF10, FGFR2, FGFR3
45	acrocephalosyndactylia	13.1	FGF10, FGFR2, FGFR3
46	synostosis	13.0	MSX1, FGF10, FGFR2, FGFR3
47	stickler syndrome	13.0	PAX9, MSX1, IRF6, FGF10, FGFR2, TP63
48	cleft palate	13.0	PAX9, MSX1, IRF6, FGF10, FGFR2, TP63
49	aorta atresia	13.0	INHA, FGF10, FGFR2, GJA1
50	lymphoproliferative syndrome	13.0	FADD, TRAF1, TRAF2, TRAF3, TNFRSF1A

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to ectodermal dysplasia:

²²

MGI Mouse Phenotypes related to ectodermal dysplasia:

²⁵ (show all 26)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	10.0	PRL, TAB2, TWIST2, TRAF6, TRAF3, AIRE
2	respiratory system phenotype	MP:0005388	9.8	TWIST2, EDARADD, EDA, CYBA, DLX2, TP63
3	cellular phenotype	MP:0005384	9.6	TNFRSF1A, NFKBIA, KRT17, EDAR, SOSTDC1, TP63
4	pigmentation phenotype	MP:0001186	9.2	EDARADD, EDAR, EDA, KRT14, KRT17, TRAF6
5	renal/urinary system phenotype	MP:0005367	8.7	TWIST2, EDA, CYBB, TP63, TRAF6, TRAF3
6	endocrine/exocrine gland phenotype	MP:0005379	8.6	AIRE, TP63, DLX3, EDARADD, TWIST2, EPHA4
7	craniofacial phenotype	MP:0005382	8.5	SOSTDC1, EVC, MAP3K7, FGFR2, FGF10, IRF6
8	hearing/vestibular/ear phenotype	MP:0005377	8.3	GJB6, DLX2, CYBA, NFKB1, EDARADD, TWIST2
9	skeleton phenotype	MP:0005390	8.2	TP63, TNFRSF1A, NFKB1, EDA, SOSTDC1, GJA1
10	hematopoietic system phenotype	MP:0005397	8.1	TRAF5, TRAF3, TRAF6, DOCK8, EDARADD, TWIST2
11	digestive/alimentary phenotype	MP:0005381	7.9	SOSTDC1, TWIST2, EDAR, EDA, FGFR3, FGFR2
12	limbs/digits/tail phenotype	MP:0005371	7.7	GJB2, TRAF6, TP63, TNF, TNFRSF1A, EDA
13	reproductive system phenotype	MP:0005389	7.6	TNFRSF1A, TNFRSF19, TNF, TP63, COL17A1, KRT14
14	tumorigenesis	MP:0002006	7.5	TNF, TNFRSF1A, CYBB, KRT14, PRL, PERP
15	vision/eye phenotype	MP:0005391	7.3	TP63, TNF, TNFRSF1A, KRT14, EDA, EDARADD
16	normal phenotype	MP:0002873	7.3	AIRE, TP63, NFKB1, NFKBIA, EDA2R, TWIST2
17	behavior/neurological phenotype	MP:0005386	7.1	CYBA, CYBB, NFKB1, KRT16, KRT6A, KRT6B
18	embryogenesis phenotype	MP:0005380	6.8	GJA1, GJB2, GJB3, TP63, TNF, TNFRSF1A
19	immune system phenotype	MP:0005387	6.4	ORAI1, TWIST2, KRT14, NFKBIA, COL17A1, CYBB
20	muscle phenotype	MP:0005369	6.1	TP63, TNF, TNFRSF1A, DLX2, CYBB, PKP2
21	cardiovascular system phenotype	MP:0005385	5.9	TNFRSF1A, TNFRSF19, TNF, TP63, TRAF6, DLX2
22	integument phenotype	MP:0010771	5.5	TWIST2, TNFRSF1A, TNFRSF19, TNF, TP63, TRAF6
23	mortality/aging	MP:0010768	5.2	EDAR, EDA, KRT14, KRT6B, KRT17, KRT16
24	nervous system phenotype	MP:0003631	4.9	CYBB, DLX2, TNFRSF1A, TNFRSF19, TNF, AIRE
25	homeostasis/metabolism phenotype	MP:0005376	4.1	PKP2, CYBB, DLX2, TNFRSF1A, TNFRSF19, TNF
26	growth/size phenotype	MP:0005378	3.9	FURIN, MSX1, BACE1, UBC, CHUK, LEF1

Articles related to ectodermal dysplasia:

(show top 50)    (show all 167)

id	Title	Authors	Year	Affiliating Genes
1	G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. (20536673)	Chen N.... Zhang L.	2010	GJB6
2	p63 in skin development and ectodermal dysplasias. (20445549)	Koster M.I.	2010	TP63
3	A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. (20033817)	Moya-Quiles M.R.... GuillAcn-Navarro E.	2010	EDA, EDAR, EDARADD
4	Ectodermal dysplasia-like syndrome with mental retard ation due to contiguous gene deletion: further clinical and molecular delineati on of del(2q32) syndrome. (20034071)	Rifai L.... Aboura A.	2010	DLX2
5	Mutations in PVRL4, encoding cell adhesion molecule n ectin-4, cause ectodermal dysplasia-syndactyly syndrome. (20691405)	Brancati F.... Dallapiccola B.	2010	PVRL4
6	From ectodermal dysplasia to selective tooth agenesis . (19504606)	Mues G.I.... D'Souza R.	2009	EDA, EDAR, EDARADD
7	Mutation analysis of the eda-A1 gene for hypohidroti c ectodermal dysplasia and construction of recombined eukaryotic expression vec tor (20077893)	Lei K.... He X.Y.	2009	EDA
8	Neonatal treatment with recombinant ectodysplasin pre vents respiratory disease in dogs with X-linked ectodermal dysplasia. (19533784)	Mauldin E.A.... Casal M.L.	2009	EDA
9	Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia. (19438931)	Shimomura Y.... Christiano A.M.	2009	EDA, EDAR
10	Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes. (18523147)	Luengo-Blanco M.... Condino-Neto A.	2008	NFKB1, NCF2, CYBB
11	A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. (18184143)	Tariq M.... Ahmad W.	2008	CDH19
12	Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds. (18821982)	Fan H.... Bian Z.	2008	EDA
13	Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)	Van der Hout A.H.... van Essen A.J.	2008	EDA, EDAR, EDARADD
14	X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. (18510547)	Lexner M.O.... Hertz J.M.	2008	EDA
15	Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. (19029074)	Clauss F.... Schmittbuhl M.	2008	EDA
16	A novel mutation in NFKBIA/IKBA results in a degradation-resistant N- truncated protein and is associated with ectodermal dysplasia with immunodeficiency. (18412279)	Lopez-Granados E.... Jain A.	2008	NFKBIA
17	Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). (19239089)	Janssens S.... Mortier G.	2008	TP63
18	X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. (18347290)	Mancini A.J.... Uzel G.	2008	IKBKG
19	Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. (18816645)	Megarbane H.... Smahi A.	2008	EDAR
20	A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)	Tariq M.... Ahmad W.	2007	EDA, EDAR, EDARADD
21	Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia (17686277)	Fan H.L.... Bian Z.	2007	EDA
22	Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family (17160938)	Li W.... Lu G.X.	2006	GJB6
23	A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. (16525032)	Naeem M.... Ahmad W.	2006	KRT85
24	Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination. (16794254)	Temmerman S.T.... Jain A.	2006	IKBKG
25	New genes candidates for ectodermal dysplasia: TAB2, TRAF6 and TAK1 (16527194)	Morlon A.... Munnich A.	2006	MAP3K7, TRAF6, TAB2
26	Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. (16532463)	Kannu P.... McGrath J.A.	2006	TP63
27	Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. (16159729)	Zheng R.... Zhu X.J.	2005	PKP1
28	Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci. (15958791)	O'Brien D.P.... Taylor J.F.	2005	EDAR
29	Dlx genes, p63, and ectodermal dysplasias. (16187309)	Morasso M.I.... Radoja N.	2005	TP63, DLX3
30	Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). (15805154)	Kjaer K.W.... Rosenberg T.	2005	CDH3
31	The ectodermal dysplasia receptor represses the Lef-1/beta-catenin-dependent transcription independent of NF-kappaB activation. (15013427)	Shindo M.... Chaudhary P.M.	2004	EDA, EDAR
32	A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. (15373768)	Shimomura Y.... Kuwano R.	2004	EDA, EDAR, EDARADD
33	Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. (15213106)	Essenfelder G.M.... Waksman G.	2004	GJB6
34	A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. (12788524)	Zhang X.J.... Huang W.	2003	GJB6
35	X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. (12949972)	Visinoni A.F.... Chautard-Freire-Maia E.A.	2003	EDA
36	Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. (12692542)	Gaide O.... Schneider P.	2003	EDA, EDA2R, EDAR
37	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (14523047)	Courtois G.... Casanova J.L.	2003	TNF, NFKBIA, IL1B
38	Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. (12270937)	Sinha S.K.... Chaudhary P.M.	2002	TRAF3, TRAF6, EDA
39	Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. (11224521)	Jain A.... Strober W.	2001	NFKBIA, IKBKG
40	Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. (11343303)	Kobielak K.... Trzeciak W.H.	2001	EDA
41	Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. (11378824)	Vincent M.-C.... Calvas P.	2001	EDA
42	Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene. (11388598)	Zankl A.... Schorderet D.F.	2001	EDA
43	X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling. (11242109)	Doeffinger R.... Casanova J.-L.	2001	IKBKG, EDAR
44	A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia. (10951256)	Aoki N.... Ito M.	2000	EDA
45	Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. (11180229)	Thornhill A.R.... McGrath J.A.	2000	PKP1
46	A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. (9856856)	Yotsumoto S.... Kanzaki T.	1998	EDA
47	The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. (9736768)	Bayes M.... Kere J.	1998	EDA
48	Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. (9507389)	Ferguson B.M.... Zonana J.	1998	EDA
49	The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. (8845850)	Kibar Z.... Rouleau G.A.	1996	GJB6
50	Hidrotic Ectodermal Dysplasia 2 (20301379)	der Kaloustian V.M.	1993	GJB6

Genes related to ectodermal dysplasia according to GeneCards:

(show top 50)    (show all 88)

id	Symbol	Description	Score	GeneCards Section Context
1	EDA	ectodysplasin A	11.1	Publications, Aliases & Descriptions, Summaries
2	EDAR	ectodysplasin A receptor	11.1	Summaries, Publications, Aliases & Descriptions
3	PKP1	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	11.1	Orthologs, Aliases & Descriptions, Publications, Transcripts (show all 5 sections) Summaries
4	GJB6	gap junction protein, beta 6, 30kDa	11.1	Summaries, Aliases & Descriptions, Publications
5	PVRL1	poliovirus receptor-related 1 (herpesvirus entry mediator C)	11.1	Summaries, Aliases & Descriptions, Publications
6	IKBKG	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	11.1	Summaries, Publications
7	EDARADD	EDAR-associated death domain	11.1	Publications, Summaries
8	TP63	tumor protein p63	11.1	Publications, Summaries
9	NFKBIA	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	11.1	Summaries, Publications
10	EDA2R	ectodysplasin A2 receptor	11.1	Publications, Summaries
11	PVRL4	poliovirus receptor-related 4	11.1	Publications, Summaries
12	TUBA3C	tubulin, alpha 3c	11.1	Summaries, Publications
13	EDSS2	Ectodermal dysplasia-syndactyly syndrome 2	11.1	Aliases & Descriptions
14	EEC2	ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2	11.1	Aliases & Descriptions
15	EEC1	ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1	11.1	Aliases & Descriptions, Publications
16	KRT85	keratin 85	11.0	Publications
17	TRAF6	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	11.0	Publications
18	FURIN	furin (paired basic amino acid cleaving enzyme)	11.0	Publications
19	CHUK	conserved helix-loop-helix ubiquitous kinase	11.0	Publications
20	GJB2	gap junction protein, beta 2, 26kDa	11.0	Publications
21	PRAP1	proline-rich acidic protein 1	11.0	Publications
22	DSC2	desmocollin 2	11.0	Publications
23	CDH3	cadherin 3, type 1, P-cadherin (placental)	11.0	Publications
24	KRT17	keratin 17	11.0
25	MAP3K7	mitogen-activated protein kinase kinase kinase 7	11.0	Publications
26	TNFRSF19	tumor necrosis factor receptor superfamily, member 19	11.0	Publications
27	AIRE	autoimmune regulator	11.0
28	TAB2	TGF-beta activated kinase 1/MAP3K7 binding protein 2	11.0	Publications
29	IRAK4	interleukin-1 receptor-associated kinase 4	11.0
30	EVC2	Ellis van Creveld syndrome 2	11.0
31	TMEM135	transmembrane protein 135	11.0	Publications
32	TNFRSF1A	tumor necrosis factor receptor superfamily, member 1A	11.0
33	PRL	prolactin	11.0	Publications
34	WNT10A	wingless-type MMTV integration site family, member 10A	11.0	Publications
35	DLX3	distal-less homeobox 3	11.0	Publications
36	GJB4	gap junction protein, beta 4, 30.3kDa	11.0	Publications
37	WNT6	wingless-type MMTV integration site family, member 6	11.0	Publications
38	DNAJB2	DnaJ (Hsp40) homolog, subfamily B, member 2	11.0	Publications
39	DLX2	distal-less homeobox 2	11.0	Publications
40	ORAI1	ORAI calcium release-activated calcium modulator 1	11.0	Publications
41	KRT6B	keratin 6B	11.0
42	KRR1	KRR1, small subunit (SSU) processome component, homolog (yeast)	11.0	Publications
43	SOSTDC1	sclerostin domain containing 1	11.0
44	MSX1	msh homeobox 1	11.0
45	OR4Q3	olfactory receptor, family 4, subfamily Q, member 3	11.0
46	GJB3	gap junction protein, beta 3, 31kDa	11.0	Publications
47	VIL1	villin 1	11.0	Publications
48	NCF1	neutrophil cytosolic factor 1	11.0	Publications
49	KRT16	keratin 16	11.0
50	KRT6A	keratin 6A	11.0

Pathways related to ectodermal dysplasia according to GeneDecks:

(show top 50)    (show all 150)

id	Pathway	Score	Top Affiliating Genes
1	Bacterial infections in CF airways41	10.5	TAB2, IKBKG, CHUK, IRAK4, MAP3K7, MAP3K14
2	RANK Signaling in Osteoclasts36	9.9	NFKBIA, TRAF5, TRAF2, TRAF6, CHUK, MAP3K7
3	CD40 Signaling36	9.8	IKBKG, IKBKE, MAP3K14, MAP3K7, TRAF1, TRAF2
4	Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/IAP pathway41	9.7	NFKB1, NFKBIA, TRAF3, TRAF5, TRAF2, CHUK
5	Immune response_Bacterial infections in normal airways41	9.7	IKBKG, TRAF6, TAB2, MAP3K14, MAP3K7, IL1B
6	RANK Pathway36	9.5	TRAF2, TRAF5, TRAF3, TRAF6, NFKB1, NFKBIA
7	APRIL Pathway36	9.4	CHUK, MAP3K7, MAP3K14, IKBKE, IKBKG, TRAF2
8	BAFF in B-Cell Signaling36	9.4	NFKBIA, NFKB1, TRAF6, TRAF3, CHUK, MAP3K7
9	Apoptosis and survival_APRIL and BAFF signaling41	9.4	TRAF3, TRAF6, NFKB1, NFKBIA, TRAF2, IKBKG
10	Apoptosis and survival APRIL and BAFF signaling10	9.4	TRAF3, NFKBIA, TRAF6, NFKB1, CHUK, MAP3K14
11	NF-KappaB Activation by EBV36	9.3	MAP3K14, CHUK, IKBKG, TRAF1, TRAF2, TRAF3
12	IL-1 beta-dependent CFTR expression41	9.3	MAP3K7, IL1B, IRAK4, MAP3K14, TAB2, NFKBIA
13	CD27 Pathway36	9.3	NFKB1, IKBKE, CHUK, MAP3K14, TRAF5, TRAF2
14	Toll Comparative Pathway36	9.3	IRAK4, MAP3K7, TRAF6, IKBKE, NFKBIA, IKBKG
15	LT-BetaR Pathway36	9.2	NFKBIA, TRAF3, TRAF5, IKBKG, IKBKE, MAP3K14
16	DR3 Signaling36	9.1	MAP3K14, FADD, CHUK, IKBKE, IKBKG, TRAF2
17	TRAIL Pathway36	9.1	IKBKE, IKBKG, CASP8, TRAF1, TRAF2, TRAF3
18	IL-1 Pathway36	9.0	IKBKG, IRAK4, NFKBIA, TRAF6, CHUK, IKBKE
19	TWEAK Pathway36	8.9	IKBKE, IKBKG, CASP8, TRAF1, TRAF2, TRAF3
20	GITR Pathway36	8.9	NFKBIA, CHUK, MAP3K14, IKBKE, IKBKG, CASP10
21	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway10	8.8	TRAF2, TRAF5, TRAF3, TNF, TNFRSF1A, NFKB1
22	Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway41	8.8	TRAF2, TRAF5, TRAF3, TRAF6, TNF, TNFRSF1A
23	Toll-Like Receptor Signaling Pathways37	8.8	TAB2, NFKBIA, NFKB1, CHUK, IRAK4, IL18
24	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway10	8.8	CHUK, MAP3K14, IKBKG, TRAF2, TRAF5, TRAF3
25	Fas Signaling36	8.7	TRAF2, TRAF1, CASP8, CASP10, IKBKG, MAP3K14
26	TNFR2 Pathway36	8.6	TRAF2, TRAF3, TNF, NFKB1, NFKBIA, TRAF1
27	Apoptotic Pathways Triggered By HIV136	8.6	NFKBIA, NFKB1, CHUK, FADD, MAP3K14, IKBKE
28	Immune response IL-1 signaling pathway10	8.4	IL1B, CHUK, IRAK4, MAP3K14, IKBKG, TRAF6
29	Apoptosis and survival_TNFR1 signaling pathway41	8.4	NFKB1, TNFRSF1A, IKBKG, NFKBIA, CASP8, TRAF2
30	Apoptosis and survival TNFR1 signaling pathway10	8.4	TNFRSF1A, NFKBIA, NFKB1, TNF, TRAF2, CASP8
31	Pathways in cancer20	8.3	FADD, WNT6, WNT10A, CHUK, TRAF6, TRAF3
32	Transcription_NF-kB signaling pathway41	8.3	CHUK, UBC, TRAF2, TNF, TNFRSF1A, MAP3K14
33	TNFR1 Pathway36	8.3	CHUK, NFKBIA, FADD, MAP3K7, MAP3K14, IKBKE
34	Immune response_MIF in innate immunity response41	8.3	IL1B, TRAF6, TNF, NFKB1, MAP3K7, NFKBIA
35	Apoptosis through Death Receptors36	8.2	CHUK, FADD, MAP3K14, IKBKE, IKBKG, CASP10
36	Immune response MIF in innate immunity response10	8.2	CHUK, TAB2, NFKBIA, TNF, TRAF6, MAP3K7
37	RIG-I-like receptor signaling pathway20	8.2	FADD, MAP3K7, IKBKE, IKBKG, CASP10, CASP8
38	TNF Signaling36	8.1	FADD, MAP3K7, MAP3K14, IKBKE, IKBKG, CASP8
39	Leishmaniasis20	8.1	TNF, NFKB1, NCF1, NCF2, IRAK4, MAP3K7
40	Immune response_IL-1 signaling pathway41	8.0	CHUK, UBC, IRAK4, IL1B, MAP3K7, MAP3K14
41	NOD-like receptor signaling pathway20	7.9	CASP8, TRAF6, TNF, NFKB1, TAB2, NFKBIA
42	Toll-like receptor signaling pathway20	7.7	IKBKE, TAB2, NFKBIA, NFKB1, TNF, TRAF6
43	Osteoclast differentiation20	7.7	NCF1, TNFRSF1A, TNF, TRAF6, TRAF2, IKBKG
44	TNF Superfamily Pathway36	7.7	TRAF1, TRAF2, TRAF5, TRAF3, TRAF6, TNF
45	NF-kappaB Signaling3	7.7	TRAF3, TRAF6, TNF, TNFRSF1A, NFKB1, NFKBIA
46	Apoptosis20	7.6	TRAF2, NFKBIA, NFKB1, TNFRSF1A, TNF, CASP8
47	14-3-3 Induced Apoptosis36	7.4	NFKBIA, NFKB1, TNFRSF1A, TNF, CHUK, IRAK4
48	NF-KappaB Family Pathway36	6.8	NFKB1, NFKBIA, TNFRSF1A, FGFR3, FGFR2, FGF10
49	TRAF Pathway36	6.6	IKBKG, CASP8, TRAF1, TRAF2, TRAF5, TRAF3
50	NF-KappaB (p50-p65) Pathway36	6.5	NFKBIA, NFKB1, TNFRSF1A, TNF, FGF10, IRAK4

Compounds related to ectodermal dysplasia according to GeneDecks:

(show top 50)    (show all 69)

id	Compound	Score	Top Affiliating Genes
1	sp 60012532 42	11.7	MAP3K14
2	gap 2742	10.4	GJB6, GJB4, GJB3, GJB2, GJA1
3	gap 2642	10.4	GJB6, GJB4, GJB3, GJB2, GJA1
4	phenylalanine32	10.3	COL17A1, FGFR3, FURIN
5	tab-232	9.9	TAB2, TNF, TRAF6, MAP3K7, CHUK
6	staurosporin32	9.8	CASP8, GJA1
7	paraffin32	9.8	KRT14, KRT17, KRT16, TNFRSF1A, GJB2, GJA1
8	bcma32	9.7	TRAF3, TRAF6, TNF, TNFRSF1A
9	glucose32	9.7	TAT, CYBB, GJB2, GJA1, IKBKG, FGFR2
10	retinoid32	9.7	KRT14, KRT17, KRT16, NFKBIA, GJB2, GJA1
11	tab-132	9.6	TAB2, TNFRSF1A, TNF, TRAF6, TRAF2, MAP3K14
12	threonine32	9.5	KRT14, CASP8, FGFR3, FGFR2, IRAK4
13	lysine32	9.5	TAT, KRT14, NFKBIA, TP63, MAP3K7, FGFR3
14	apocynin32	9.4	TAT, CYBB, CYBA, TNF, NCF2
15	sb 20358032 42	10.2	TNF, TRAF2, AIRE, GJA1, CASP8, MAP3K7
16	parthenolide32	9.2	CHUK, CASP8, TNF, NFKBIA
17	proline32	9.1	NFKBIA, KRT16, KRT6A, KRT14, PRAP1, COL17A1
18	ceramide32	9.1	TNF, TRAF3, CASP8, BACE1
19	peptidoglycan32	9.0	NFKBIA, TNF, TRAF6, TRAF2, MAP3K14, IL1B
20	paclitaxel32 34 9 9	12.0	NFKBIA, TNFRSF1A, TRAF3, TRAF1, GJA1, CASP8
21	poly(i-c)32	8.8	NFKBIA, TNF, TRAF6, IKBKE, IL1B, IL18
22	diphenyleneiodonium32	8.8	TAT, CYBB, CYBA, TNF, IL1B, NCF2
23	simvastatin32 34 42 9 18 9	13.8	NFKBIA, TNFRSF1A, TNF, CASP8, IL18, BACE1
24	oligonucleotide32	8.6	TAT, KRT17, NFKBIA, CYBB, CYBA, TRAF3
25	doxorubicin32 34 9 9	11.6	TRAF1, TRAF3, TP63, TNFRSF1A, NFKBIA, GJA1
26	anisomycin32 42 9 9	11.5	TNFRSF1A, TNF, GJA1, CASP8, MAP3K7, IL1B
27	cisplatin32 34 9 9	11.5	TRAF1, TRAF2, TP63, TNFRSF1A, NFKBIA, KRT14
28	pdtc32	8.5	NFKBIA, TNF, CASP8, IL1B, IL18, CHUK
29	arginine32	8.5	PRL, TAT, EDA, KRT14, NFKBIA, CYBB
30	h2o232	8.5	CYBB, CYBA, TNFRSF1A, TRAF6, TRAF2, GJA1
31	phosphatidylinositol32	8.4	GJA1, TRAF2, TRAF3, TRAF6, TNFRSF1A, NFKBIA
32	oxygen32 18	9.4	TAT, NFKBIA, CYBB, CYBA, TRAF6, TRAF3
33	pentoxifylline32 9 9	10.4	TAT, NFKBIA, TNF, IL1B, IL18
34	curcumin32	8.3	NFKBIA, TNFRSF1A, TNF, CASP8, IL1B, IL18
35	alanine32	8.2	TRAF2, TRAF3, TNFRSF1A, NFKBIA, KRT14, TAT
36	rantes32	8.1	TRAF2, TNF, TNFRSF1A, NFKBIA, TAT, TRAF1
37	n acetylcysteine32	7.8	TNF, TNFRSF1A, CYBA, NFKBIA, TRAF2, CASP8
38	superoxide32 18	8.8	TNF, TNFRSF1A, CYBA, CYBB, NFKBIA, GJA1
39	thalidomide32 42 9 9	10.8	NFKBIA, NFKB1, TNFRSF1A, TNF, IL1B, IL18
40	calcium32 9 18 9	10.6	TP63, TNFRSF1A, CYBA, COL17A1, PKP1, NFKBIA
41	actinomycin d32	7.6	TAT, NFKBIA, TNFRSF1A, TNF, TRAF1, CASP8
42	cycloheximide32	7.5	TAT, NFKBIA, COL17A1, TNFRSF1A, TNF, TRAF2
43	pd 98,05932	7.4	TRAF1, TRAF3, TNF, NFKBIA, GJA1, CASP8
44	vegf32	7.2	TAT, NFKBIA, CYBB, TNFRSF1A, TNF, TP63
45	lipid32	7.1	TRAF3, TRAF6, TNF, TNFRSF1A, CYBA, PKP1
46	nitric oxide32 9 18 9	10.1	TNFRSF1A, CYBA, CYBB, NFKB1, NFKBIA, KRT16
47	dexamethasone32 42 34 9 9	11.0	PRL, TAT, NFKBIA, CYBB, CYBA, TNFRSF1A
48	retinoic acid32 42 18	8.8	TNF, TNFRSF1A, CYBB, NFKBIA, KRT16, KRT17
49	tyrosine32	6.0	EPHA4, AIRE, TRAF2, TRAF3, TRAF6, TP63
50	serine32	5.9	TNF, TRAF6, TRAF3, AIRE, GJA1, TNFRSF1A

Cellular components related to ectodermal dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	connexon complex	GO:005922	10.2	GJB6, GJB4, GJB3, GJB2, GJA1
2	CD40 receptor complex	GO:035631	10.2	CHUK, TRAF2, TRAF5, TRAF3, TRAF6
3	internal side of plasma membrane	GO:009898	10.1	TRAF6, TRAF3, TRAF5, TRAF2, CHUK
4	IkappaB kinase complex	GO:008385	10.1	IKBKG, MAP3K7, CHUK
5	NADPH oxidase complex	GO:043020	10.1	CYBB, CYBA, NCF2, NCF1
6	desmosome	GO:030057	10.1	PERP, DSC2, PKP2, PKP1
7	endosome membrane	GO:010008	9.6	UBC, IRAK4, MAP3K7, IKBKE, TRAF6, TAB2
8	membrane raft	GO:045121	8.7	TNFRSF1A, TNF, TRAF2, GJA1, CASP8, FADD
9	plasma membrane	GO:005886	6.4	TNFRSF1A, COL17A1, PKP1, PKP2, NFKBIA, EDA
10	cytosol	GO:005829	5.7	CASP8, GJA1, TRAF2, TRAF3, TRAF6, DOCK8

Biological processes related to ectodermal dysplasia according to GeneDecks:

(show top 50)    (show all 59)

id	Name	GO ID	Score	Top Affiliating Genes
1	activation of NF-kappaB-inducing kinase activity	GO:007250	10.6	TRAF6, TRAF2, IKBKG, MAP3K7
2	positive regulation of T cell cytokine production	GO:002726	10.5	TRAF6, TRAF2, MAP3K7
3	hair follicle development	GO:001942	10.5	WNT10A, EDARADD, EDAR, TNFRSF19
4	epidermis development	GO:008544	10.4	EDAR, EDA2R, KRT14, KRT85, KRT17, KRT16
5	positive regulation of interleukin-2 production	GO:032743	10.3	TRAF6, TRAF2, MAP3K7
6	skin development	GO:043588	10.3	WNT10A, EDA, GJB3, IRF6, LEF1
7	respiratory burst	GO:045730	10.3	NCF1, NCF2, CYBA, CYBB
8	superoxide anion generation	GO:042554	10.3	CYBB, CYBA, NCF2, NCF1
9	superoxide metabolic process	GO:006801	10.2	CYBB, CYBA, NCF2, NCF1
10	positive regulation of type I interferon production	GO:032481	10.2	NFKBIA, NFKB1, IKBKG, CHUK
11	odontogenesis of dentin-containing tooth	GO:042475	10.1	WNT6, EDARADD, EDAR, EDA, DLX2, TP63
12	stress-activated MAPK cascade	GO:051403	10.1	TAB2, TRAF6, IKBKG, MAP3K7, UBC
13	hair follicle morphogenesis	GO:031069	10.0	WNT10A, TP63, FGFR2, FGF10
14	I-kappaB kinase/NF-kappaB cascade	GO:007249	10.0	TAB2, CHUK, UBC, MAP3K7, MAP3K14, IKBKG
15	positive regulation of JUN kinase activity	GO:043507	9.9	TRAF6, TRAF2, MAP3K7, IL1B
16	cell junction assembly	GO:034329	9.8	PVRL1, KRT14, COL17A1, CDH3, PVRL4
17	regulation of immunoglobulin secretion	GO:051023	9.8	TRAF2, TRAF6, TNF
18	interaction with host	GO:051701	9.8	CYBB, CYBA, NCF2, NCF1
19	nucleotide-binding oligomerization domain containing signaling pathway	GO:070423	9.8	TAB2, TRAF6, CASP8, IKBKG, MAP3K7, UBC
20	nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	GO:035872	9.8	UBC, MAP3K7, IKBKG, CASP8, TRAF6, TAB2
21	tumor necrosis factor-mediated signaling pathway	GO:033209	9.7	EDA2R, TNFRSF19, TNF, TRAF3, TRAF2
22	T cell receptor signaling pathway	GO:050852	9.6	TAB2, NFKBIA, NFKB1, TRAF6, IKBKG, MAP3K7
23	toll-like receptor 1 signaling pathway	GO:034130	9.6	TAB2, NFKBIA, NFKB1, TRAF6, IKBKG, MAP3K7
24	toll-like receptor 2 signaling pathway	GO:034134	9.6	TAB2, NFKBIA, NFKB1, TRAF6, IKBKG, MAP3K7
25	MyD88-dependent toll-like receptor signaling pathway	GO:002755	9.6	TAB2, NFKBIA, NFKB1, TRAF6, IKBKG, MAP3K7
26	MyD88-independent toll-like receptor signaling pathway	GO:002756	9.5	TAB2, NFKBIA, NFKB1, TRAF6, IKBKG, IKBKE
27	toll-like receptor signaling pathway	GO:002224	9.4	TRAF6, NFKB1, NFKBIA, TAB2, TRAF3, IKBKG
28	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:002479	9.4	CYBB, CYBA, UBC, NCF2, NCF1
29	positive regulation of NF-kappaB import into nucleus	GO:042346	9.3	EDAR, EDA, TNF, IL1B
30	extrinsic apoptotic signaling pathway	GO:097191	9.3	TNF, CASP8, FADD
31	TRIF-dependent toll-like receptor signaling pathway	GO:035666	9.3	TRAF6, NFKB1, NFKBIA, TAB2, TRAF3, IKBKG
32	JNK cascade	GO:007254	9.3	TAB2, TNFRSF19, TNF, TRAF6, IKBKG, MAP3K7
33	toll-like receptor 3 signaling pathway	GO:034138	9.3	TRAF6, NFKB1, NFKBIA, TAB2, TRAF3, IKBKG
34	induction of apoptosis	GO:006917	9.3	PERP, TNFRSF19, TNF, TP63, TRAF3, CASP10
35	Toll signaling pathway	GO:008063	9.3	TRAF6, NFKB1, NFKBIA, TAB2, TRAF3, IKBKG
36	toll-like receptor 4 signaling pathway	GO:034142	9.3	TRAF6, NFKB1, NFKBIA, TAB2, TRAF3, IKBKG
37	epithelial cell proliferation involved in salivary gland morphogenesis	GO:060664	9.2	FGF10, FGFR2, TNF
38	lipopolysaccharide-mediated signaling pathway	GO:031663	8.9	NFKBIA, TNF, IL1B, IL18
39	positive regulation of sequence-specific DNA binding transcription factor activity	GO:051091	8.8	IL1B, TRAF2, TRAF5, TRAF6, TNF
40	cellular response to mechanical stimulus	GO:071260	8.6	NFKB1, TNFRSF1A, CASP8, MAP3K14, FADD, IL1B
41	induction of apoptosis by extracellular signals	GO:008624	8.5	TNFRSF1A, TNF, TRAF6, TRAF2, CASP8, CASP10
42	activation of MAPK activity	GO:000187	8.5	TAB2, TNF, TRAF6, IKBKG, MAP3K7, IL1B
43	inflammatory response	GO:006954	8.1	NFKB1, CYBB, CYBA, TNFRSF1A, TNF, IKBKG
44	anti-apoptosis	GO:006916	7.9	TWIST2, NFKBIA, NFKB1, TNF, TRAF6, IL1B
45	negative regulation of cell proliferation	GO:008285	7.9	DNAJB2, TWIST2, TNF, GJA1, IL1B, FGFR2
46	innate immune response	GO:045087	7.8	TAB2, NFKBIA, NFKB1, CYBB, CYBA, TRAF6
47	positive regulation of NF-kappaB transcription factor activity	GO:051092	7.8	TRAF6, TRAF5, TRAF2, TRAF1, IKBKG, MAP3K7
48	positive regulation of I-kappaB kinase/NF-kappaB cascade	GO:043123	7.0	CHUK, TNF, TRAF6, TRAF5, TRAF1, GJA1
49	positive regulation of transcription from RNA polymerase II promoter	GO:045944	6.9	TRAF6, TP63, TNF, TNFRSF1A, DLX2, NFKB1
50	apoptotic process	GO:006915	5.8	TRAF6, TP63, TNF, TNFRSF19, TNFRSF1A, PKP1

Molecular functions related to ectodermal dysplasia according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	tumor necrosis factor-activated receptor activity	GO:005031	10.3	EDA2R, TNFRSF1A, TNFRSF19
2	superoxide-generating NADPH oxidase activity	GO:016175	10.2	CYBB, CYBA, NCF1
3	gap junction channel activity	GO:005243	10.2	GJA1, GJB2, GJB3, GJB4
4	thioesterase binding	GO:031996	10.1	TRAF6, TRAF3, TRAF5, TRAF2, TRAF1
5	structural constituent of cytoskeleton	GO:005200	10.0	KRT16, KRT6A, KRT17, KRT6B, KRT14
6	ubiquitin protein ligase binding	GO:031625	9.6	NFKBIA, TRAF6, TRAF3, TRAF5, TRAF2, TRAF1
7	tumor necrosis factor receptor binding	GO:005164	9.1	EDA, TNF, TRAF2, CASP8, FADD
8	identical protein binding	GO:042802	8.8	TNF, TP63, TRAF2, AIRE, CASP8, FADD
9	protein binding	GO:005515	3.5	EPHA4, KRT16, NFKBIA, NFKB1, COL17A1, CYBB