Epidermolysis Bullosa malady

NIH Rare Diseases: Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler SyndromeIdentifying the exact type is difficult because there are many subtypes for this condition. Most types of epidermolysis bullosa are inherited. The inheritance pattern may be dominant or recessive.  ³⁰

MalaCards: Epidermolysis Bullosa, also known as epidermolysis bullosa (disorder), is related to junctional epidermolysis bullosa and epidermolysis bullosa with pyloric atresia. An important gene associated with Epidermolysis Bullosa is COL7A1 (collagen, type VII, alpha 1), and among its related pathways are Cell adhesion_Cell-matrix glycoconjugates and Cell-Cell communication. The drugs phenytoin sodium,prompt and phenytoin sodium extended and the compounds kalinin and egcg have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, colon and skin, and related mouse phenotypes are respiratory system and liver/biliary system.

Wikipedia: Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and...⁴⁴ more...

Aliases & Descriptions:

epidermolysis bullosa 6 7 30 17 8 32 43 epidermolysis bullosa (disorder) 6

acantholysis bullosa 6

Diseases related to epidermolysis bullosa by text searches and GeneDecks gene sharing:

(show top 50)    (show all 591)

id	Related Disease	Score	Top Affiliating Genes
1	junctional epidermolysis bullosa	40.6	LAMA3, LAMB3, LAMC1, LAMC2, ITGA6, ITGB4
2	epidermolysis bullosa with pyloric atresia	38.1	ITGA6, ITGB4, PLEC, ACHE, AFP
3	epidermolysis bullosa simplex	37.5	VIM, ATP2A2, IVL, ITGB4, FLG, LOR
4	epidermolysis bullosa dystrophica	37.2	CD36, MMP1, MMP3, FLG, FBN1, COL7A1
5	recessive dystrophic epidermolysis bullosa	37.1	JUN, CDKN2A, IVL, MMP1, MMP3, FLG
6	epidermolysis bullosa pruriginosa	36.8	MMP1, FLG, IL31, COL7A1
7	epidermolysis bullosa simplex with mottled pigmentation	36.7	ATP2A2, KRT5, KRT14
8	junctional epidermolysis bullosa, non-herlitz type	35.7	LAMB3, LAMC2, ITGB4, COL17A1
9	bullous pemphigoid	35.4	LAD1, LAMA3, LAMB3, LAMC2, CD79A, IVL
10	junctional epidermolysis bullosa, herlitz type	35.3	LAMA3, LAMB3, LAMC2
11	muscular dystrophy	34.9	VIM, LAMA3, LAMB1, LAMC1, FGF2, HLA-DRB1
12	epidermolysis bullosa acquisita	34.8	SERPINH1, LAD1, LAMA3, LAMC2, CD79A, ITGB4
13	epidermolysis bullosa inversa	34.0	LAMC1, LAMC2, COL1A1, COL7A1
14	epidermolytic hyperkeratosis	31.0	FLG, KRT5, KRT1, KRT10
15	aplasia cutis congenita	30.9	ITGA6, ITGB4, ACHE
16	eczema	30.5	CD79A, CD151, MMP1, FLG, IL2RB, IL31
17	focal segmental glomerulosclerosis	30.1	VIM, CD79A, ITGB4, IL2RA, IGFBP3, TGFB1
18	kindler syndrome	29.9	ITGB4, FERMT1, FBLIM1, COL7A1, KRT15, TGFB1
19	nevus	29.7	VIM, MUC1, CDKN2A, ITGA6, FLG, FGF2
20	ataxia	28.8	VIM, LAMB1, JUN, CD79A, ITGB4, MMP10
21	atopy	28.5	CD79A, FLG, ARG1, IL2RA, IL31, IL8
22	squamous cell carcinoma	28.4	SERPINH1, VIM, BMP1, MUC1, LAMA3, LAMC2
23	twinning	28.4	MUC1, LAMB3, CD79A, CD36, CDKN2A, IL8
24	nephrotic syndrome	28.0	VIM, LAMB3, JUN, CD79A, IL2RA, IL2RB
25	myopathy	27.8	VIM, LAMB1, CD79A, FGF2, IL8, IGFBP3
26	duodenitis	26.8	MUC1, CD79A, CDKN2A, ITGA6, MMP3, FGF2
27	crohn's disease	25.4	VIM, MUC1, JUN, CD79A, CD36, MMP1
28	laryngitis	25.3	VIM, MUC1, JUN, CD79A, CD36, CDKN2A
29	esophagitis	22.2	SERPINH1, VIM, MUC1, LAMB3, LAMC2, JUN
30	carcinoma	21.8	SERPINH1, VIM, BMP1, MUC1, LAD1, LAMA3
31	cicatricial pemphigoid	14.0	LAD1, LAMA3, LAMC2, CD79A, ITGA6, ITGB4
32	ichthyosis vulgaris	13.9	IVL, FLG, LOR, KRT14
33	primary cutaneous amyloidosis	13.9	IL31, KRT5, KRT17, KRT10
34	ichthyosis bullosa of siemens	13.9	KRT1, KRT10, KRT2
35	bladder squamous cell carcinoma	13.9	KRT5, KRT10, KRT14
36	pemphigoid gestationis	13.9	HLA-DRB1, COL17A1, DST
37	mongolian spot	13.8	ATP2A2, IVL, DSP
38	congenital ichthyosiform erythroderma	13.8	IVL, FLG, KRT10, KRT2
39	trichoepithelioma	13.8	VIM, IVL, KRT17, KRT10, KRT15, KRT14
40	porokeratosis	13.8	IVL, FLG, LOR, TP53
41	epidermolytic acanthoma	13.7	KRT16, KRT1, KRT10
42	acanthoma	13.7	IVL, KRT16, KRT1, KRT10
43	steatocystoma multiplex	13.7	KRT16, KRT17, KRT10
44	epidermolytic palmoplantar keratoderma	13.7	KRT16, KRT17, KRT1, KRT9
45	skin carcinoma	13.7	LAMC2, IVL, FLG, TP53, CSF2
46	localized scleroderma	13.7	CD36, MMP1, IL2RA
47	bowen syndrome	13.7	IVL, FLG, KRT16, KRT17, KRT1, KRT10
48	spiradenoma	13.7	TP53, KRT15, KRT14
49	osteogenesis imperfecta type 4	13.7	CD36, COL1A1, GGT1
50	osteogenesis imperfecta type i	13.7	CD36, COL1A1, GGT1

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 phenytoin, phenytoin sodium, phenytoin sodium extended, phenytoin sodium,extended, phenytoin sodium,prompt

MalaCards organs/tissues related to epidermolysis bullosa:

²²

MGI Mouse Phenotypes related to epidermolysis bullosa:

²⁵ (show all 25)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.6	ACHE, FBN1, LAMC1
2	liver/biliary system phenotype	MP:0005370	10.2	TP53, GHRH, CD36
3	other phenotype	MP:0005395	10.1	CSF2, DST, FBN1, ITGA6, CDKN2A, LAMC2
4	pigmentation phenotype	MP:0001186	9.9	GGT1, DST, KRT14, KRT2, KRT1, KRT17
5	endocrine/exocrine gland phenotype	MP:0005379	9.8	GGT1, AFP, LTA, GHRH, IL2RB, LAMC1
6	hearing/vestibular/ear phenotype	MP:0005377	9.6	ACHE, KRT2, KRT10, COL1A1, RXRA, FGF2
7	embryogenesis phenotype	MP:0005380	9.4	DSP, COL1A1, RXRA, FBN1, GRIP1, ITGA6
8	reproductive system phenotype	MP:0005389	9.3	KRT14, ACHE, DST, TGFB1, CSF2, AFP
9	craniofacial phenotype	MP:0005382	9.2	KRT16, KRT6A, KRT10, KRT6B, KRT2, ACHE
10	renal/urinary system phenotype	MP:0005367	9.1	GRIP1, FERMT1, FBN1, RXRA, DST, ITGB4
11	skeleton phenotype	MP:0005390	8.8	MATN1, TP53, RXRA, COL7A1, CSF2, FGF2
12	tumorigenesis	MP:0002006	8.8	COL1A1, KRT10, KRT14, TGFB1, CSF2, AFP
13	behavior/neurological phenotype	MP:0005386	8.7	RNF103, KRT5, KRT16, KRT6A, KRT6B, LTA
14	limbs/digits/tail phenotype	MP:0005371	8.5	COL7A1, KRT5, KRT10, KRT2, LTA, DST
15	immune system phenotype	MP:0005387	8.3	PLEC, TP53, LOR, APLF, COL1A1, COL17A1
16	hematopoietic system phenotype	MP:0005397	8.3	TRADD, COL1A1, DSG3, DST, CSF2, HGF
17	digestive/alimentary phenotype	MP:0005381	7.6	COL1A1, COL7A1, KRT5, KRT16, KRT6A, KRT17
18	nervous system phenotype	MP:0003631	7.1	FBN1, GHRH, ERBB2IP, TP53, PLEC, RXRA
19	cardiovascular system phenotype	MP:0005385	6.9	FBN1, TP53, TMSB4X, PLEC, RXRA, COL1A1
20	vision/eye phenotype	MP:0005391	6.8	RXRA, COL1A1, KRT14, LTA, ACHE, DSG3
21	mortality/aging	MP:0010768	6.5	GGT1, AFP, SERPINH1, IL2RA, FERMT1, GRIP1
22	integument phenotype	MP:0010771	6.4	CSF2, LOR, FBN1, IL2RB, FERMT1, GRIP1
23	growth/size phenotype	MP:0005378	6.0	KRT6B, KRT10, KRT6A, KRT16, COL17A1, COL7A1
24	cellular phenotype	MP:0005384	6.0	COL1A1, RXRA, PLEC, TP53, TRADD, APLF
25	homeostasis/metabolism phenotype	MP:0005376	5.6	KRT16, COL1A1, RXRA, PLEC, TP53, TRADD

Articles related to epidermolysis bullosa:

(show top 50)    (show all 497)

id	Title	Authors	Year	Affiliating Genes
1	The inversa type of recessive dystrophic epidermolysi s bullosa is caused by specific arginine and glycine substitutions in type VII collagen. (21113014)	van den Akker P.C.... Jonkman M.F.	2011	COL7A1
2	Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108428)	Garcia M.... del Rio M.	2010	COL7A1
3	Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation. (19691749)	Sugiyama-Fukamatsu H.... Iwatsuki K.	2009	KRT5
4	A novel mutation (p.Thr198Ser) in the 1A helix of ker atin 5 causes the localized variant of epidermolysis bullosa simplex. (19220453)	Bowden P.E.... Liovic M.	2009	KRT5, KRT14
5	Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. (18779879)	Dang N.... Murrell D.F.	2008	ITGA6, ITGB4
6	Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. (17273164)	Sawamura D.... Shimizu H.	2007	PLEC
7	Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. (17115047)	Mavilio F.... De Luca M.	2006	LAMB3
8	Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (16882168)	Yasukawa K.... Shimizu H.	2006	KRT5, KRT14
9	Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. (15737193)	Capt A.... Meneguzzi G.	2005	LAMA3
10	Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa. (15140235)	Mallipeddi R.... McGrath J.A.	2004	RXRA, IGFBP3, DAPK3
11	Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (14987259)	Csikos M.... Karpati S.	2004	KRT5, KRT14
12	Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)	Ortiz-Urda S.... Khavari P.A.	2003	LAMB3
13	PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (12828862)	Ortiz-Urda S.... Khavari P.A.	2003	LAMB3
14	Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17. (14578178)	El Ghalbzouri A.... Ponec M.	2003	KRT14, KRT17
15	Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1. (11983858)	Bladt F.... Pawson T.	2002	GRIP1
16	Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock. (12376565)	D'Alessandro M.... Lane E.B.	2002	KRT5, KRT14
17	Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. (11973334)	Yasukawa K.... Shimizu H.	2002	KRT5, KRT14
18	A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. (12353709)	Jiang W.... Zhu X.	2002	COL7A1
19	Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. (11843659)	Sato-Matsumura K.C.... Shimizu H.	2002	COL7A1
20	A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. (11159198)	Bauer J.W.... Hintner H.	2001	PLEC
21	In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. (11296269)	Robbins P.B.... Khavari P.A.	2001	LAMB3
22	Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients. (11378329)	Ryoo Y.W.... Lee K.S.	2001	COL7A1
23	Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. (11564184)	Castiglia D.... Zambruno G.	2001	LAMB3, LAMC2, LAMA3
24	Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa. (10620140)	Masunaga T.... Nishikawa T.	2000	COL7A1
25	Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. (10383751)	Tamai K.... Uitto J.	1999	COL7A1
26	Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. (10484780)	Chavanas S.... Meneguzzi G.	1999	ITGB4
27	180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. (9666835)	Mazzanti C.... Zambruno G.	1998	COL17A1, DST
28	Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)	Posteraro P.... Zambruno G.	1998	LAMB3
29	Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. (9792864)	Pulkkinen L.... Uitto J.	1998	ITGB4
30	Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. (9892956)	Mellerio J.E.... Eady R.A.J.	1998	ITGA6, ITGB4
31	Generalized atrophic benign epidermolysis bullosa in 2 siblings complicated by multiple squamous cell carcinomas. (9487212)	Swensson O.... Christophers E.	1998	LAMB3
32	A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. (9457914)	Darling T.N.... Yancey K.B.	1998	COL17A1
33	Mosaic expression of uncein, linear IgA bullous dermatosis antigen and 180-kDa bullous pemphigoid antigen in generalized atrophic benign epidermolysis bullosa. (9666845)	Jonkman M.F.... Fine J.D.	1998	DST, LAD1
34	Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. (9375858)	Christiano A.M.... Uitto J.	1997	COL7A1
35	Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence. (8712842)	Shimizu H.... Nishikawa T.	1996	ITGA6, ITGB4
36	First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. (8733382)	McGrath J.A.... Uitto J.	1996	GGT1
37	Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)	Jonkman M.F.... Scheffer H.	1996	KRT14, KRT15
38	A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. (8618022)	McGrath J.A.... Uitto J.	1996	LAMA3
39	Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (7774918)	Pulkkinen L.... Uitto J.	1995	LAMB1, LAMB3
40	A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. (7849725)	Baudoin C.... Meneguzzi G.	1994	LAMC2
41	Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. (7837248)	Dunnill M.G.... Pope F.M.	1994	COL7A1
42	Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). (8012394)	Aberdam D.... Ortonne J.P.	1994	LAMC2
43	Ultrastructural findings in epidermolysis bullosa. (7504435)	Smith L.T.	1993	LAMC2
44	Alpha-fetoprotein and acetylcholinesterase are not predictors of fetal junctional epidermolysis bullosa, Herlitz variant. (7685091)	Shulman L.P.... Fine J.D.	1993	ACHE
45	Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role. (8228337)	Verrando P.... Ortonne J.P.	1993	LAMC2
46	A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. (8513326)	Christiano A.M.... Uitto J.	1993	COL7A1
47	Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex. (7686424)	Dong W.... Uitto J.	1993	KRT5
48	Expression of integrins in junctional and dystrophic epidermolysis bullosa. (1694890)	Nazzaro V.... Caputo R.	1990	ITGA6
49	Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome. (2653224)	Fine J.-D.... Wright T.	1989	COL7A1
50	Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. (5910871)	Bart B.J.... Lynch F.W.	1966	COL7A1

Genes related to epidermolysis bullosa according to GeneCards:

(show top 50)    (show all 92)

id	Symbol	Description	Score	GeneCards Section Context
1	COL7A1	collagen, type VII, alpha 1	11.1	Summaries, Aliases & Descriptions, Publications
2	KRT5	keratin 5	11.1	Aliases & Descriptions, Summaries, Publications
3	KRT14	keratin 14	11.1	Summaries, Aliases & Descriptions, Publications
4	LAMC2	laminin, gamma 2	11.1	Summaries, Aliases & Descriptions, Publications
5	PLEC	plectin	11.1	Summaries, Publications, Aliases & Descriptions
6	ITGB4	integrin, beta 4	11.1	Summaries, Publications
7	LAMB3	laminin, beta 3	11.1	Publications, Summaries
8	LAMA3	laminin, alpha 3	11.1	Summaries, Publications
9	COL17A1	collagen, type XVII, alpha 1	11.1	Publications, Summaries
10	EBR4	epidermolysis bullosa 4, pseudojunctional (intraepidermal)	11.1	Aliases & Descriptions
11	EBR3	epidermolysis bullosa 3, progressiva	11.1	Aliases & Descriptions
12	EBM	epidermolysis bullosa, macular type	11.1	Aliases & Descriptions
13	ITGA6	integrin, alpha 6	11.1	Publications
14	DST	dystonin	11.1	Publications
15	FLG	filaggrin	11.1	Publications
16	MMP1	matrix metallopeptidase 1 (interstitial collagenase)	11.1	Publications
17	LAMC1	laminin, gamma 1 (formerly LAMB2)	11.0	Publications
18	LAD1	ladinin 1	11.0	Publications
19	KRT1	keratin 1	11.0	Publications
20	IVL	involucrin	11.0	Publications
21	DSP	desmoplakin	11.0	Publications
22	ACHE	acetylcholinesterase	11.0	Publications
23	MATN1	matrilin 1, cartilage matrix protein	11.0	Publications
24	KRT17	keratin 17	11.0	Publications
25	KRT10	keratin 10	11.0
26	ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	11.0	Publications
27	MMP3	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	11.0	Publications
28	FBN1	fibrillin 1	11.0	Publications
29	CD79A	CD79a molecule, immunoglobulin-associated alpha	11.0	Publications
30	BFSP2	beaded filament structural protein 2, phakinin	11.0	Summaries
31	IL31	interleukin 31	11.0	Publications
32	KRT15	keratin 15	11.0	Publications
33	TGM5	transglutaminase 5	11.0	Publications
34	MED10	mediator complex subunit 10	11.0
35	DAPK3	death-associated protein kinase 3	11.0	Publications
36	LOR	loricrin	11.0	Publications
37	ASB14	ankyrin repeat and SOCS box containing 14	11.0
38	KRT2	keratin 2	11.0
39	KRT9	keratin 9	11.0
40	DR1	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	11.0
41	CD151	CD151 molecule (Raph blood group)	11.0
42	EIF6	eukaryotic translation initiation factor 6	11.0	Publications
43	FCGRT	Fc fragment of IgG, receptor, transporter, alpha	11.0	Publications
44	MMP10	matrix metallopeptidase 10 (stromelysin 2)	11.0	Publications
45	TRADD	TNFRSF1A-associated via death domain	11.0	Publications
46	KRT6A	keratin 6A	11.0
47	ARG1	arginase, liver	11.0	Publications
48	SERPINH1	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	11.0	Publications
49	GHRH	growth hormone releasing hormone	11.0	Publications
50	LAMB1	laminin, beta 1	11.0	Publications

Pathways related to epidermolysis bullosa according to GeneDecks:

(show top 50)    (show all 64)

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion_Cell-matrix glycoconjugates41	10.5	MMP3, MMP1, LAMC1, LAMB1
2	Cell-Cell communication38	10.5	KRT14, KRT5, COL17A1, FBLIM1, ITGB4, CD151
3	FAK1 Signaling36	10.5	COL17A1, COL7A1, COL1A1, FBN1, ITGB4, ITGA6
4	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms41	10.4	COL1A1, ITGB4, ITGA6, LAMC1, LAMB1
5	Cell adhesion Endothelial cell contacts by non-junctional mechanisms10	10.4	COL1A1, ITGB4, ITGA6, LAMC1, LAMB1
6	Small cell lung cancer20	10.4	RXRA, TP53, ITGA6, LAMC2, LAMC1, LAMB3
7	ECM-receptor interaction20	10.4	COL1A1, ITGB4, ITGA6, CD36, LAMC2, LAMC1
8	Integrin Pathway36	10.4	ITGB4, FBN1, COL1A1, COL7A1, COL17A1, ITGA6
9	GnRH Signaling36	10.3	ITGB4, FBN1, COL1A1, COL7A1, COL17A1, ITGA6
10	Toxoplasmosis20	10.3	TGFB1, HLA-DRB1, ITGA6, LAMC2, LAMC1, LAMB3
11	Inhibition of Angiogenesis by TSP136	10.3	COL17A1, COL7A1, COL1A1, FBN1, CD36, JUN
12	ERK Signaling36	10.2	GHRH, COL1A1, COL7A1, COL17A1, TGFB1, FBN1
13	Metalloproteases in connective tissue degradation10	10.2	COL1A1, MMP3, MMP13, MMP10, MMP1, LAMC2
14	Activation of Matrix Metalloproteinases38	10.1	MMP1, MMP10, MMP13, MMP3
15	Cytoskeleton remodeling_Keratin filaments41	10.0	DST, DSP, KRT14, KRT2, KRT1, KRT17
16	Cytoskeleton remodeling Keratin filaments10	10.0	KRT5, PKP1, PLEC, VIM, KRT16, KRT6A
17	UPA-UPAR Pathway36	10.0	COL17A1, COL7A1, COL1A1, FBN1, MMP3, MMP13
18	Cell adhesion Cell-matrix glycoconjugates10	10.0	MMP3, MMP1, LAMC1, LAMB1, MUC1
19	Cell adhesion_Plasmin signaling41	9.8	LAMC1, MMP13, FGF2, TGFB1, LAMB1
20	Amoebiasis20	9.7	CSF2, TGFB1, COL1A1, IL8, ARG1, LAMC2
21	ILK Signaling36	9.7	COL7A1, COL17A1, DSP, COL1A1, TMSB4X, GHRH
22	JNK Pathway36	9.7	TGFB1, TP53, GHRH, IL2RB, IL2RA, FGF2
23	Cell adhesion_ECM remodeling41	9.7	LAMB1, LAMB3, LAMC1, LAMC2, MMP1, MMP10
24	Cell adhesion ECM remodeling10	9.7	COL1A1, LAMA3, LAMB1, LAMB3, LAMC1, LAMC2
25	Cell adhesion Plasmin signaling10	9.7	TGFB1, FGF2, MMP13, LAMC1, LAMB1
26	Bladder cancer20	9.7	DAPK3, TP53, IL8, MMP1, CDKN2A
27	Rheumatoid arthritis20	9.6	CSF2, TGFB1, HLA-DRB1, IL8, MMP3, MMP1
28	Apoptosis38	9.6	DSP, DSG3, DSG1, PKP1, PLEC, TRADD
29	Focal adhesion20	9.6	HGF, COL1A1, ITGB4, ITGA6, JUN, LAMC2
30	Transendothelial Migration of Leukocytes36	9.6	MMP13, MMP3, IL8, FBN1, COL1A1, COL7A1
31	Akt Signaling36	9.2	HGF, CSF2, LTA, IL2RB, IL2RA, ITGB4
32	Rac1 Pathway36	9.2	HGF, TGFB1, GHRH, IL2RA, FGF2, ITGB4
33	Pathways in cancer20	9.1	DAPK3, RXRA, TGFB1, HGF, TP53, FGF2
34	PTEN Pathway36	9.1	BMP1, LAMA3, LAMB1, LAMB3, LAMC1, COL17A1
35	Phospholipase-C Pathway36	9.1	IL2RA, FBN1, GHRH, COL1A1, COL7A1, COL17A1
36	Mitochondrial Apoptosis36	9.0	HGF, TGFB1, TP53, GHRH, IL2RA, FGF2
37	PPAR Pathway36	9.0	RXRA, LTA, TGFB1, HGF, GHRH, IL2RA
38	Cellular Apoptosis Pathway36	9.0	TP53, DAPK3, TGFB1, HGF, TRADD, GHRH
39	Apoptotic Pathways in Synovial Fibroblasts36	8.9	HGF, TGFB1, LTA, TP53, GHRH, IL2RA
40	Pancreatic Adenocarcinoma36	8.8	GHRH, TP53, TGFB1, HGF, FGF2, MMP3
41	MIF Regulation of Innate Immune Cells36	8.6	HGF, CSF2, LTA, IL8, JUN, BMP1
42	Molecular Mechanisms of Cancer36	8.6	BMP1, HGF, TGFB1, LTA, COL17A1, COL7A1
43	TGF-Beta Pathway36	8.5	HGF, TGFB1, GHRH, IL8, IL2RB, IL2RA
44	Tec Kinases Signaling36	8.4	IL8, GHRH, TGFB1, HGF, IL2RB, IL2RA
45	MAPK Signaling36	8.4	LAMA3, BMP1, LAMB1, LAMB3, TP53, COL1A1
46	MAPK Family Pathway36	8.2	HGF, TGFB1, LTA, TRADD, GHRH, IL8
47	Nuclear Receptor Activation by Vitamin-A36	8.2	HGF, TGFB1, RXRA, GHRH, IL2RA, GRIP1
48	p38 Signaling36	8.0	TP53, LTA, TGFB1, CSF2, HGF, TRADD
49	Rho Family GTPases36	8.0	IL8, FGF2, ITGB4, ITGA6, JUN, LAMC2
50	Antioxidant Action of Vitamin-C36	8.0	HGF, CSF2, TGFB1, LTA, GHRH, IL8

Compounds related to epidermolysis bullosa according to GeneDecks:

(show top 50)    (show all 150)

id	Compound	Score	Top Affiliating Genes
1	kalinin32	10.8	LAMC2, ITGB4, KRT5, DST, LAMC1, LAMA3
2	egcg32	10.4	IGFBP3, IVL
3	progesterone32 42 9 18 9	14.2	RXRA, GHRH, FBN1, ITGA6, CDKN2A, KRT5
4	ascorbic acid32 18	10.9	FBN1, MMP13, FLG, IL2RA, IGFBP3, CD36
5	calcipotriol32 42 9 9	12.8	FLG, ITGB4, VIM, IL8, KRT5, IVL
6	hematoxylin32	9.8	MUC1, CDKN2A, VIM, KRT10, FLG, KRT14
7	arginine32	9.7	GGT1, KRT14, KRT9, KRT10, KRT1, COL1A1
8	12-o-tetradecanoylphorbol 13-acetate32	9.7	KRT1, LTA, EIF6, DSP, DST, CSF2
9	procollagen32	9.6	TGFB1, VIM, COL1A1, IGFBP3, BMP1, MATN1
10	tgf beta132	9.6	FGF2, AFP, DSP, CD36, MMP1, MMP13
11	betacarotene32	9.6	CD79A, CD36, IVL, MMP1, IL2RA, IGFBP3
12	estrogen32	9.6	AFP, PEPD, KRT14, KRT10, KRT1, KRT5
13	valine32	9.5	GGT1, AFP, PEPD, CSF2, KRT1, KRT5
14	gold32	9.5	AFP, CDKN2A, COL17A1, GHRH, FBN1, IL2RB
15	pge232	9.5	MMP3, HGF, MMP13, FGF2, ARG1, MMP1
16	ivig32	9.4	DSG3, DSG1, LTA, FCGRT, CSF2
17	cysteine32	9.1	CD79A, CDKN2A, IVL, MMP1, MMP13, FLG
18	chloramphenicol32 9 9	11.1	MMP3, VIM, MUC1, JUN, CDKN2A, IVL
19	sb 20358032 42	10.1	CD36, VIM, HGF, IVL, MMP1, MMP13
20	alginate32	9.1	MATN1, TGFB1, MMP13, FGF2, HGF, CD79A
21	calcitriol32 42 9 18 9	13.1	CSF2, KRT10, KRT16, RXRA, IGFBP3, IL2RA
22	hydroxyproline32 18	10.0	HGF, CD36, MMP1, TGFB1, COL1A1, FBN1
23	hyaluronic acid32 18	9.9	FGF2, FBN1, VIM, MUC1, CD36, MMP1
24	vitamin a32 9 18 9	11.9	KRT16, VIM, GGT1, IGFBP3, LOR, HGF
25	heparin32 9 18 9	11.8	BMP1, VIM, LAMC1, CSF2, MMP3, HGF
26	proline32	8.8	IVL, TP53, SERPINH1, HGF, PEPD, KRT14
27	1,25 dihydroxy vitamin d332	8.7	IVL, GRIP1, IL2RB, IGFBP3, COL1A1, KRT16
28	steroid32	8.6	GRIP1, FLG, AFP, IVL, CDKN2A, CD79A
29	glutamate32	8.5	KRT1, ARG1, IGFBP3, MMP3, CD79A, RXRA
30	retinoid32	8.5	VIM, JUN, IVL, ITGA6, MMP1, MMP13
31	oligonucleotide32	8.5	MMP10, MMP13, HLA-DRB1, TP53, TGFB1, KRT17
32	butyrate32	8.4	CDKN2A, JUN, MUC1, VIM, TGFB1, CSF2
33	prednisolone32 9 9	10.3	MMP13, MMP3, FGF2, IL2RA, IL2RB, DSG3
34	vitamin d32	8.2	TGFB1, CSF2, HGF, AFP, KRT14, GHRH
35	hydrocortisone32 9 9	10.2	HGF, CSF2, KRT14, KRT17, IL8, FGF2
36	methotrexate32 34 42 9 9	12.1	IVL, ITGA6, MMP1, MMP3, IL2RA, IL2RB
37	herbimycin a32 42	9.1	IL2RA, HGF, JUN, CD36, ITGA6, MMP1
38	cyclosporin a32 42	9.0	IL2RA, FGF2, MMP3, MMP1, IVL, CD79A
39	genistein32 9 18 9	10.8	IL2RB, MMP3, VIM, HGF, CSF2, KRT5
40	creatinine32	7.6	GGT1, VIM, MUC1, CD79A, CD36, CDKN2A
41	matrigel32	7.5	VIM, HGF, MMP3, MMP13, MMP10, MMP1
42	vegf32	7.3	IGFBP3, FGF2, ARG1, MMP3, MMP13, MMP10
43	thymidine32 18	8.3	MUC1, TP53, IGFBP3, IL2RB, IL2RA, FGF2
44	cycloheximide32	7.3	MMP1, CD36, CDKN2A, IGFBP3, MMP13, MMP3
45	paraffin32	7.2	KRT16, KRT5, TP53, IL2RA, FGF2, MMP3
46	retinoic acid32 42 18	9.1	CD79A, JUN, LAMB1, CD36, KRT15, KRT10
47	tyrosine32	6.3	IL2RB, ITGA6, IVL, MUC1, SERPINH1, ITGB4
48	dexamethasone32 42 34 9 9	10.3	VIM, FGF2, MUC1, JUN, CD79A, CD36
49	calcium32 9 18 9	8.3	MMP13, FBN1, MATN1, LOR, GHRH, TMSB4X
50	serine32	4.1	DSG1, ACHE, LTA, KRT14, KRT10, KRT1

Cellular components related to epidermolysis bullosa according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	laminin-5 complex	GO:005610	10.5	LAMC2, LAMB3, LAMA3
2	hemidesmosome	GO:030056	10.5	DST, COL17A1, PLEC, ERBB2IP, ITGB4
3	intermediate filament cytoskeleton	GO:045111	10.2	DST, KRT2, KRT17, PLEC, VIM
4	laminin-1 complex	GO:005606	10.0	LAMC1, LAMB1, LAMA3
5	proteinaceous extracellular matrix	GO:005578	9.8	MMP1, MMP10, MMP13, MMP3, FBN1, MATN1
6	basement membrane	GO:005604	9.8	DST, COL17A1, COL7A1, ERBB2IP, FBN1, ITGA6
7	keratin filament	GO:045095	9.6	KRT9, KRT2, KRTAP11-1, KRT14, KRT6B, KRT10
8	intermediate filament	GO:005882	9.5	VIM, DST, DSP, KRT14, KRT2, KRT15
9	desmosome	GO:030057	9.3	PKP1, DSG1, DSG3, DSP
10	extracellular space	GO:005615	7.4	FBN1, IGFBP3, GHRH, COL1A1, LTA, TGFB1
11	extracellular region	GO:005576	6.9	FBN1, IGFBP3, GHRH, TMSB4X, COL1A1, COL7A1

Biological processes related to epidermolysis bullosa according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	hemidesmosome assembly	GO:031581	10.5	DST, LAMA3, LAMB3, LAMC1, LAMC2, CD151
2	peptide cross-linking	GO:018149	10.4	IVL, LOR, DSP, TGM5
3	cell junction assembly	GO:034329	10.3	KRT14, KRT5, COL17A1, PLEC, FBLIM1, ITGB4
4	keratinocyte differentiation	GO:030216	10.3	DSP, KRT10, LOR, FLG, IVL
5	intermediate filament organization	GO:045109	10.3	VIM, KRT9, DSP
6	intermediate filament cytoskeleton organization	GO:045104	10.2	BFSP2, ERBB2IP, KRT16, DST
7	collagen catabolic process	GO:030574	10.2	PEPD, MMP3, MMP13, MMP10, MMP1
8	extracellular matrix disassembly	GO:022617	10.1	MMP3, MMP13, MMP10, MMP1, LAMC1
9	collagen biosynthetic process	GO:032964	10.1	SERPINH1, ARG1, COL1A1
10	extracellular matrix organization	GO:030198	10.0	COL17A1, COL7A1, COL1A1, MMP3, MMP13, MMP10
11	epidermis development	GO:008544	9.8	DSP, TGM5, KRT14, KRT2, LAMA3, LAMB3
12	cellular component disassembly involved in apoptotic process	GO:006921	9.4	DSP, DSG3, DSG1, PKP1, PLEC, VIM
13	cell adhesion	GO:007155	9.0	ITGB4, FERMT1, ERBB2IP, COL7A1, PKP1, ACHE
14	liver development	GO:001889	8.9	AFP, HGF, RXRA, ARG1, JUN

Molecular functions related to epidermolysis bullosa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:005201	10.2	LAMB1, LAMC1, FBN1, MATN1, COL1A1
2	structural constituent of epidermis	GO:030280	9.8	KRT10, PKP1, LOR
3	structural molecule activity	GO:005198	9.6	DSP, KRTAP11-1, KRT10, KRT81, KRT86, LOR
4	structural constituent of cytoskeleton	GO:005200	9.4	VIM, DSP, KRT14, KRT2, KRT9, KRT6B
5	protein binding	GO:005515	4.7	KRT17, KRT6A, KRT81, KRT16, KRT5, RNF103