Epidermolysis Bullosa Simplex malady

NIH Rare Diseases: Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory.The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS). Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the³⁰

MalaCards: Epidermolysis Bullosa Simplex, also known as epidermolysis bullosa simplex (disorder), is related to epidermolysis bullosa simplex with mottled pigmentation and epidermolysis bullosa simplex, localized. An important gene associated with Epidermolysis Bullosa Simplex is KRT5 (keratin 5), and among its related pathways are Cell-Cell communication and Cytoskeleton remodeling Neurofilaments. The compounds kalinin and acitretin have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related mouse phenotypes are pigmentation and craniofacial.

Genetics Home Reference: 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. Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering may primarily affect the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.¹⁷

Wikipedia: Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin...⁴⁴ more...

GeneReviews summary for ebs

Aliases & Descriptions:

epidermolysis bullosa simplex 6 7 15 30 17 8 32 43 epidermolysis bullosa simplex (disorder) 6 16 epidermolysis bullosa simplex superficialis 43

epidermolysis bullosa intraepidermic 30 ebs 16

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

(show top 50)    (show all 161)

id	Related Disease	Score	Top Affiliating Genes
1	epidermolysis bullosa simplex with mottled pigmentation	37.4	KRT14, KRT5, ATP2A2
2	epidermolysis bullosa simplex, localized	36.4	KRT5, KRT14
3	epidermolysis bullosa simplex, dowling-meara type	36.2	KRT5, KRT14
4	epidermolysis bullosa simplex, generalized	36.2	KRT5, KRT14
5	epidermolysis bullosa	32.8	COL7A1, PLEC, TRADD, LOR, FLG, ITGB4
6	peeling skin syndrome	32.7	TGM5, COL7A1
7	bullous pemphigoid	31.5	DST, KRT14, KRT5, COL17A1, COL7A1, PLEC
8	epidermolytic hyperkeratosis	31.4	KRT10, KRT1, KRT5, FLG
9	epidermolysis bullosa with pyloric atresia	31.0	PLEC, ITGB4
10	nevus	29.2	KRT14, KRT15, KRT10, KRT1, KRT17, KRT16
11	epidermolysis bullosa dystrophica	27.5	COL7A1, FLG
12	epidermolysis bullosa acquisita	27.2	DST, COL17A1, COL7A1, ITGB4
13	breast cancer	24.7	DST, KRT14, KRT6B, KRT17, KRT6A, KRT86
14	prostatitis	24.3	KRT14, KRT15, KRT10, KRT1, KRT17, KRT6A
15	squamous cell carcinoma	23.4	KRT17, KRT1, KRT10, KRT15, KRT14, DST
16	carcinoma	22.7	KRT10, KRT1, KRT17, KRT6A, KRT15, KRT6B
17	ichthyosis hystrix, curth macklin type	13.7	KRT5, KRT1
18	skin disease	13.6	KRT14, COL17A1
19	cyclic ichthyosis with epidermolytic hyperkeratosis	13.6	KRT1, KRT10
20	predominantly cortical thymoma	13.6	IVL, KRT14
21	pemphigoid gestationis	13.6	COL17A1, DST
22	junctional epidermolysis bullosa, non-herlitz type	13.6	DST, COL17A1
23	bladder squamous cell carcinoma	13.5	KRT14, KRT10, KRT5
24	primary cutaneous amyloidosis	13.5	KRT10, KRT17, KRT5
25	hidradenitis	13.5	KRT14, KRT10, KRT1
26	hidradenitis suppurativa	13.5	KRT14, KRT10, KRT1
27	pachyonychia congenita type 2	13.5	KRT17, KRT6B
28	bullous skin disease	13.5	DST, COL17A1
29	vohwinkel syndrome	13.5	KRT10, LOR
30	skin benign neoplasm	13.4	KRT14, KRT1, KRT5
31	cicatricial pemphigoid	13.4	DST, COL17A1, ITGB4
32	erythrokeratoderma	13.4	KRT10, LOR
33	exfoliative ichthyosis	13.4	KRT2, KRT5
34	mongolian spot	13.4	ATP2A2, IVL
35	ichthyosis bullosa of siemens	13.4	KRT2, KRT10, KRT1
36	epidermolysis bullosa pruriginosa	13.3	FLG, COL7A1
37	porokeratosis	13.3	LOR, FLG, IVL
38	glucocorticoid deficiency	13.3	LOR, FLG, IVL
39	herpes gestationis	13.3	DST, COL17A1
40	junctional epidermolysis bullosa	13.3	DST, KRT14, COL17A1, ITGB4
41	focal palmoplantar keratoderma	13.3	KRT1, KRT16
42	lichen sclerosus	13.3	IVL, FLG, COL17A1
43	hair disease	13.3	KRT81, KRT86
44	epidermal nevus vitamin d resistant rickets	13.3	KRT1, KRT10
45	epidermolytic acanthoma	13.2	KRT16, KRT1, KRT10
46	steatocystoma multiplex	13.2	KRT10, KRT17, KRT16
47	pilomatrixoma	13.2	KRT81, KRT14
48	ichthyosis vulgaris	13.2	KRT14, LOR, FLG, IVL
49	nodular hidradenoma	13.2	KRT10, VIM
50	kindler syndrome	13.2	KRT15, COL7A1, ITGB4

Approved drugs:

Drug clinical trials:

Genetic tests related to epidermolysis bullosa simplex:

id	Genetic test	Affiliating Genes
1	Epidermolysis Bullosa Simplex clinical/research	KRT5, KRT14

MalaCards organs/tissues related to epidermolysis bullosa simplex:

²²

MGI Mouse Phenotypes related to epidermolysis bullosa simplex:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.2	DST, KRT14, KRT2, KRT1, KRT17
2	craniofacial phenotype	MP:0005382	8.0	KRT2, KRT6B, KRT10, KRT6A, KRT16, KRT5
3	digestive/alimentary phenotype	MP:0005381	7.8	DST, KRT14, KRT6B, KRT17, KRT6A, KRT16
4	homeostasis/metabolism phenotype	MP:0005376	7.1	KRT14, KRT1, KRT6A, KRT16, PLEC, TRADD
5	integument phenotype	MP:0010771	6.5	ATP2A2, DST, KRT14, KRT2, KRT6B, KRT10
6	mortality/aging	MP:0010768	6.3	KRT6A, KRT17, KRT1, KRT10, KRT6B, KRT14

Articles related to epidermolysis bullosa simplex:

(show top 50)    (show all 130)

id	Title	Authors	Year	Affiliating Genes
1	Consequences of two different amino-acid substitution s at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis. (21593775)	Natsuga K.... Shimizu H.	2011	KRT14
2	Gene dosage effect of p.Glu170Lys mutation in the KRT 5 gene in a Polish family with epidermolysis bullosa simplex. (21144712)	OA8dak M.... Kowalewski C.	2011	KRT5
3	Novel keratin 14 hotspot mutation in Dowling-Meara ty pe of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplifi cation by a simple approach. (19854623)	OA8dak M.... PA8oski R.	2010	KRT14
4	A new pathogenic keratin 5 mutation in a Hindoestan f amily with localized epidermolysis bullosa simplex. (19797037)	Flohil S.C.... Jonkman M.F.	2010	KRT5, KRT14
5	A homozygous nonsense mutation within the dystonin ge ne coding for the coiled-coil domain of the epithelial isoform of BPAG1 underli es a new subtype of autosomal recessive epidermolysis bullosa simplex. (20164846)	Groves R.W.... McGrath J.A.	2010	DST
6	Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. (20665883)	Natsuga K.... Shimizu H.	2010	PLEC
7	Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. (20164844)	Kiritsi D.... Has C.	2010	TGM5
8	Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. (18384561)	Yuan H.... Liu J.	2008	KRT5
9	A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. (17659012)	Li X.L.... Zhou S.N.	2007	KRT14
10	Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. (16792776)	Han S.... Bowden P.E.	2006	KRT14
11	Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland. (15827748)	Hamada T.... Hashimoto T.	2005	KRT14
12	Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)	Horiguchi Y.... Shimizu H.	2005	KRT5
13	A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex. (15854057)	Kemp M.W.... Murrell D.F.	2005	KRT5
14	A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex. (15654986)	Indelman M.... Sprecher E.	2005	KRT14
15	Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. (15377356)	Pasmooij A.M.... Jonkman M.F.	2004	COL17A1
16	Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (14987259)	Csikos M.... Karpati S.	2004	KRT5, KRT14
17	The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)	Hamada T.... Hashimoto T.	2004	KRT5
18	Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. (15324323)	Nagao-Watanabe M.... Kondo N.	2004	KRT5
19	Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. (15206692)	Koss-Harnes D.... Gedde-Dahl T.	2004	PLEC
20	Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. (14962092)	Smith F.J.... McLean W.H.	2004	KRT5, KRT14
21	An autocrine/paracrine loop linking keratin 14 aggregates to tumor necrosis factor alpha-mediated cytotoxicity in a keratinocyte model of epidermolysis bullosa simplex. (14660619)	Yoneda K.... Inagaki N.	2004	KRT14, TRADD
22	A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. (15347343)	Li J.-G.... Peng Z.-H.	2004	KRT5
23	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
24	Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. (12603865)	Wood P.... McLean W.H.I.	2003	KRT14
25	Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. (12648226)	Sprecher E.... Richard G.	2003	KRT5, KRT1
26	Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (12655565)	Schuilenga-Hut P.H.L.... Scheffer H.	2003	KRT5, KRT14
27	Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)	Charlesworth A.... Meneguzzi G.	2003	PLEC
28	Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. (12930305)	Sorensen C.B.... Bolund L.	2003	KRT14
29	A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex. (11990248)	Gu L.H.... Kitajima Y.	2002	KRT14
30	Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. (11918708)	Schuilenga-Hut P.H.... Jonkman M.F.	2002	KRT14
31	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
32	Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. (12485428)	Jonkman M.F.... Steege G.	2002	ITGB4
33	Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. (11851893)	Huber M.... Bruckner-Tuderman L.	2002	COL17A1
34	Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients. (11407989)	Livingston R.J.... Stephens K.	2001	KRT5
35	Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. (11167681)	Irvine A.D.... Heagerty A.H.	2001	KRT5
36	Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. (10730767)	Shemanko C.S.... Lane E.B.	2000	KRT5, KRT14
37	Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. (10652001)	Kunz M.... Zillikens D.	2000	PLEC
38	Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. (9989794)	Soerensen C.B.... Gregersen N.	1999	KRT5, KRT14
39	Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). (9804355)	Shemanko C.S.... Eady R.A.J.	1998	KRT14
40	Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. (8894687)	Pulkkinen L.... Uitto J.	1996	PLEC
41	Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)	Gache Y.... Ortonne J.P.	1996	PLEC
42	A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. (8757772)	Nomura K.... Hashimoto I.	1996	KRT5
43	Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)	Chen H.... Epstein E.H. Jr.	1995	KRT14
44	Keratin 14 gene point mutation in the KAPbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method. (7539246)	Hachisuka H.... Sasai Y.	1995	KRT14
45	Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient. (8435522)	McGrath J.A.... Eady R.A.	1993	KRT5, KRT14
46	A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (7526933)	Hovnanian A.... Goossens M.	1993	KRT5, KRT14
47	A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. (7688405)	Stephens K.... Spencer A.	1993	KRT14
48	Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. (1717157)	Coulombe P.A.... Fuchs E.	1991	KRT14
49	Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. (1721080)	Ishida-Yamamoto A.... Eady R.A.	1991	KRT5, KRT14
50	Mapping of epidermolysis bullosa simplex mutation to chromosome 12. (1718160)	Ryynanen M.... Uitto J.	1991	KRT5

Genes related to epidermolysis bullosa simplex according to GeneCards:

(show all 29)

id	Symbol	Description	Score	GeneCards Section Context
1	KRT5	keratin 5	11.2	Aliases & Descriptions, Publications, Summaries
2	KRT14	keratin 14	11.1	Summaries, Aliases & Descriptions, Publications
3	PLEC	plectin	11.1	Summaries, Publications, Aliases & Descriptions
4	BFSP2	beaded filament structural protein 2, phakinin	11.1	Summaries
5	KRT1	keratin 1	11.0	Publications
6	KRT17	keratin 17	11.0	Publications
7	COL17A1	collagen, type XVII, alpha 1	11.0	Publications
8	KRT10	keratin 10	11.0
9	ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	11.0	Publications
10	ITGB4	integrin, beta 4	11.0	Publications
11	DST	dystonin	11.0	Publications
12	IVL	involucrin	11.0
13	FLG	filaggrin	11.0
14	KRTAP11-1	keratin associated protein 11-1	11.0
15	KRT15	keratin 15	11.0	Publications
16	TGM5	transglutaminase 5	11.0	Publications
17	LOR	loricrin	11.0	Publications
18	KRT86	keratin 86	11.0
19	KRT81	keratin 81	11.0
20	KRT9	keratin 9	11.0
21	KRT6B	keratin 6B	11.0
22	KRT2	keratin 2	11.0
23	COL7A1	collagen, type VII, alpha 1	11.0	Publications
24	TRADD	TNFRSF1A-associated via death domain	11.0	Publications
25	KRT6A	keratin 6A	11.0
26	KRT16	keratin 16	11.0
27	CPSF4	cleavage and polyadenylation specific factor 4, 30kDa	11.0	Disorders
28	PEPD	peptidase D	11.0	Publications
29	VIM	vimentin	11.0	Publications

Pathways related to epidermolysis bullosa simplex according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cell-Cell communication38	9.8	ITGB4, COL17A1, KRT5, KRT14
2	Cytoskeleton remodeling Neurofilaments10	9.5	DST, PLEC, VIM
3	Apoptosis38	9.4	VIM, TRADD, PLEC
4	Cytoskeleton remodeling_Neurofilaments41	9.3	VIM, PLEC, DST
5	Cytoskeletal Signaling3	8.8	KRT6B, KRT10, KRT17, KRT6A, KRT5, VIM
6	Cytoskeleton remodeling Keratin filaments10	7.8	VIM, DST, PLEC, KRT5, KRT16, KRT6A
7	Cytoskeleton remodeling_Keratin filaments41	7.8	KRT5, KRT16, KRT6A, KRT17, KRT1, KRT2

Compounds related to epidermolysis bullosa simplex according to GeneDecks:

(show all 31)

id	Compound	Score	Top Affiliating Genes
1	kalinin32	10.3	ITGB4, KRT5, DST
2	acitretin32 9 9	12.3	IVL, KRT5, KRT17
3	collodion32	10.2	IVL, LOR
4	histidine32	10.1	KRT14, KRT10, KRT5, FLG
5	tazarotene32 9 9	12.1	KRT1, KRT10, KRT2
6	epsilon-(gamma-glutamyl)lysine32	9.9	LOR, IVL
7	urea32 9 18 9	12.9	KRT14, KRT5, FLG, IVL
8	isotretinoin32 9 9	11.8	KRT14, KRT10, KRT1, KRT16
9	cp-4932	9.8	VIM, BFSP2
10	dithranol32	9.7	KRT10, KRT16, FLG, IVL
11	sodium dodecylsulfate32	9.7	KRT1, KRT17, KRT16, IVL
12	hydrocortisone32 9 9	11.6	KRT14, KRT17, IVL, VIM
13	eosin32	9.5	VIM, KRT10
14	bromodeoxyuridine32	9.4	KRT14, KRT10, KRT1, FLG, IVL, VIM
15	12-o-tetradecanoylphorbol 13-acetate32	9.4	VIM, IVL, KRT5, KRT1, DST
16	calcitriol32 42 9 18 9	13.4	IVL, FLG, KRT16, KRT10
17	hematoxylin32	9.2	KRT14, KRT10, KRT1, LOR, FLG, IVL
18	vitamin a32 9 18 9	12.2	KRT14, KRT16, KRT5, LOR, VIM
19	lysine32	9.0	KRT14, KRT2, KRT1, KRT86, KRT5, IVL
20	steroid32	9.0	KRT10, KRT1, KRT16, COL17A1, LOR, FLG
21	arginine32	8.8	KRT14, KRT9, KRT10, KRT1, KRT5, COL7A1
22	valine32	8.7	PEPD, KRT1, KRT5, COL7A1, VIM
23	paraffin32	8.6	DST, KRT14, KRT10, KRT1, KRT17, KRT16
24	retinoic acid32 42 18	10.6	KRT2, KRT15, KRT10, KRT1, KRT17, KRT16
25	calcipotriol32 42 9 9	11.5	VIM, KRT14, KRT15, KRT10, KRT16, KRT5
26	leucine32	8.4	PEPD, KRT9, KRT1, KRT5, ITGB4, VIM
27	retinoid32	8.3	KRT14, KRT2, KRT10, KRT1, KRT17, KRT16
28	calcium32 9 18 9	11.2	TGM5, DST, KRT14, KRT6B, KRT10, KRT1
29	tyrosine32	8.2	PEPD, KRT14, KRT15, KRT10, KRT1, KRT17
30	proline32	7.3	KRT1, KRT10, KRT14, PEPD, KRT6A, KRT16
31	serine32	6.2	KRT5, KRT16, KRT17, KRT1, KRT10, KRT14

Cellular components related to epidermolysis bullosa simplex according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hemidesmosome	GO:030056	9.8	DST, COL17A1, PLEC, ITGB4
2	basement membrane	GO:005604	9.7	COL7A1, COL17A1, DST
3	cell leading edge	GO:031252	9.3	VIM, ITGB4, DST
4	intermediate filament cytoskeleton	GO:045111	9.0	DST, KRT2, KRT17, PLEC, VIM
5	keratin filament	GO:045095	7.7	KRT5, KRT86, KRT81, KRT6A, KRT1, KRT10
6	intermediate filament	GO:005882	6.9	VIM, DST, KRT14, BFSP2, FLG, KRT5

Biological processes related to epidermolysis bullosa simplex according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	cell junction assembly	GO:034329	9.9	KRT14, KRT5, COL17A1, PLEC, ITGB4
2	peptide cross-linking	GO:018149	9.8	TGM5, LOR, IVL
3	intermediate filament cytoskeleton organization	GO:045104	9.7	BFSP2, KRT16, DST
4	keratinocyte differentiation	GO:030216	9.7	KRT10, LOR, FLG, IVL
5	hemidesmosome assembly	GO:031581	9.7	DST, KRT14, KRT5, COL17A1, PLEC, ITGB4
6	intermediate filament organization	GO:045109	9.7	VIM, KRT9
7	keratinization	GO:031424	9.6	IVL, LOR, KRT2
8	lens fiber cell development	GO:070307	9.5	VIM, BFSP2
9	epidermis development	GO:008544	7.6	ATP2A2, TGM5, KRT14, KRT2, KRT9, KRT15

Molecular functions related to epidermolysis bullosa simplex according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of epidermis	GO:030280	10.0	LOR, KRT10
2	structural molecule activity	GO:005198	8.8	KRTAP11-1, KRT10, KRT81, KRT86, LOR, FLG
3	structural constituent of cytoskeleton	GO:005200	6.8	VIM, KRT14, KRT2, KRT9, KRT6B, KRT15
4	protein binding	GO:005515	5.8	KRT81, KRT6A, KRT17, KRT1, KRT15, KRT14