MCID: PLM102
MIFTS: 47

Palmoplantar Keratoderma, Epidermolytic

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Epidermolytic

MalaCards integrated aliases for Palmoplantar Keratoderma, Epidermolytic:

Name: Palmoplantar Keratoderma, Epidermolytic 53 49 51
Keratosis Palmaris Et Plantaris Familiaris 53 49 71 69
Epidermolytic Palmoplantar Keratoderma 49 36 28 13
Keratosis of Greither 53 49 71
Tylosis 53 49 71
Eppk 53 49 71
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 49 69
Epidermolytic Palmoplantar Keratoderma Vorner Type 49 69
Keratoderma, Palmoplantar, Epidermolytic 71 69
Keratoderma, Epidermolytic Palmoplantar 53 49
Hyperkeratosis, Localized Epidermolytic 53 49
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type 49
Hyperkeratosis Palmoplantar Localized Epidermolytic 49
Epidermolytic Palmoplantar Keratoderma of Voerner 49
Epidermolytic Palmoplantar Keratoderma of Vörner 49
Focal Non Epidermolytic Palmoplantar Keratoderma 49
Palmoplantar Keratoderma, Nonepidermolytic 69
Unilateral Palmoplantar Verrucous Nevus 71
Localized Epidermolytic Hyperkeratosis 71
Palmoplantar Keratoderma, Vorner Type 53
Palmoplantar Keratoderma Vorner Type 71
Keratoderma, Palmoplantar, Diffuse 69
Epidermolytic Unna-Thost Disease 71
Early Onset Tylosis 49
Late Onset Tylosis 49
Familial Tylosis 49
Hyperkeratosis 69
Type B Tylosis 69
Type a Tylosis 69
Ehppk 71
Ppke 53
Upvn 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
palmoplantar keratoderma, epidermolytic:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Palmoplantar Keratoderma, Epidermolytic

OMIM : 53 Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). (144200)

MalaCards based summary : Palmoplantar Keratoderma, Epidermolytic, also known as keratosis palmaris et plantaris familiaris, is related to palmoplantar keratoderma, bothnian type and palmoplantar keratoderma, nonepidermolytic, and has symptoms including hyperhidrosis, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Palmoplantar Keratoderma, Epidermolytic is KRT9 (Keratin 9), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 Keratoderma, palmoplantar, epidermolytic: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. Unilateral palmoplantar verrucous nevus: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Palmoplantar keratoderma.

Related Diseases for Palmoplantar Keratoderma, Epidermolytic

Diseases related to Palmoplantar Keratoderma, Epidermolytic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, bothnian type 32.7 KRT1 KRT9
2 palmoplantar keratoderma, nonepidermolytic 31.0 KRT1 KRT16 KRT9
3 epidermolytic hyperkeratosis 30.4 KRT1 KRT16 KRT17 KRT9
4 tylosis with esophageal cancer 12.5
5 ankylosing vertebral hyperostosis with tylosis 12.2
6 naxos disease 11.3
7 cardiomyopathy, dilated, with woolly hair and keratoderma 11.2
8 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.2
9 palmoplantar keratoderma, nonepidermolytic, focal 2 11.2
10 ichthyosis hystrix, curth-macklin type 11.2
11 palmoplantar keratoderma, nonepidermolytic, focal 1 11.2
12 knuckle pads 10.5
13 ovarian cancer 10.2
14 dilated cardiomyopathy 10.1
15 diphtheria 10.1
16 ehlers-danlos syndrome 10.1
17 epidermolytic acanthoma 10.1 KRT1 KRT9
18 esophagitis 10.1
19 acanthoma 10.0 KRT1 KRT9
20 esophageal cancer 10.0
21 leukoplakia 10.0
22 oral leukoplakia 10.0
23 beckwith-wiedemann syndrome 9.8
24 birt-hogg-dube syndrome 9.8
25 nipples, supernumerary 9.8
26 incontinentia pigmenti 9.8
27 squamous cell carcinoma 9.8
28 melanoma 9.8
29 hyperostosis 9.8
30 pachyonychia congenita 2 9.8 KRT16 KRT17
31 tinea corporis 9.8 KRT16 KRT17
32 median rhomboid glossitis 9.7 KRT16 KRT17
33 steatocystoma multiplex 9.7 KRT16 KRT17
34 epidermolysis bullosa simplex 9.7 KRT1 KRT17
35 bowen's disease 9.7 KRT16 KRT17
36 keratosis 9.7 KRT1 KRT17 KRT9
37 glossitis 9.7 KRT16 KRT17
38 keratoacanthoma 9.7 KRT16 KRT17
39 congenital ichthyosiform erythroderma 9.6 KRT1 KRT9
40 primary cutaneous amyloidosis 9.6 KRT16 KRT17
41 pachyonychia congenita 1 9.5 KRT16 KRT17 KRT9
42 white sponge nevus 1 9.5 KRT1 KRT16 KRT9
43 palmoplantar keratosis 9.5 KRT1 KRT16 KRT9
44 ichthyosis bullosa of siemens 9.5 KRT1 KRT16 KRT9
45 monilethrix 9.5 KRT16 KRT17 KRT9
46 skin disease 9.5 KRT1 KRT16 KRT9
47 psoriasis 9.2 KRT1 KRT16 KRT17

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Epidermolytic:



Diseases related to Palmoplantar Keratoderma, Epidermolytic

Symptoms & Phenotypes for Palmoplantar Keratoderma, Epidermolytic

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
localized epidermolytic hyperkeratosis
thick, waxy skin of palms and soles with well-defined erythematous border
keratosis palmaris
keratosis plantaris
hyperkeratosis on dorsal surface of fingers and toes (knuckle pads, in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
cytolysis of keratinocytes in spinous and granular layers
aggregated tonofilaments at cell surface

Skin Nails Hair Skin Histology:
thickened granular layer of epidermis
large irregularly shaped keratohyalin granules
perinuclear vacuolization of keratinocytes


Clinical features from OMIM:

144200

Human phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 frequent (33%) HP:0000975
2 palmoplantar keratoderma 31 hallmark (90%) HP:0000982
3 abnormality of the fingernails 31 frequent (33%) HP:0001231
4 erythema 31 hallmark (90%) HP:0010783
5 eczema 31 frequent (33%) HP:0000964
6 verrucae 31 hallmark (90%) HP:0200043
7 increased ige level 31 HP:0003212
8 palmoplantar hyperkeratosis 31 HP:0000972
9 localized epidermolytic hyperkeratosis 31 hallmark (90%) HP:0007559

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

25 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.6 KRT17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.6 KRT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.6 KRT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.6 KRT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.6 KRT17
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 KRT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.6 KRT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.6 KRT17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.6 KRT1 KRT17
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 KRT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.6 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.6 KRT17
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.6 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 KRT17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 KRT17
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 KRT17
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.6 KRT1

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Epidermolytic:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 KRT17 EVPL KRT1 KRT16

Drugs & Therapeutics for Palmoplantar Keratoderma, Epidermolytic

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Epidermolytic

Genetic tests related to Palmoplantar Keratoderma, Epidermolytic:

# Genetic test Affiliating Genes
1 Epidermolytic Palmoplantar Keratoderma 28 KRT1 KRT9

Anatomical Context for Palmoplantar Keratoderma, Epidermolytic

MalaCards organs/tissues related to Palmoplantar Keratoderma, Epidermolytic:

38
Skin

Publications for Palmoplantar Keratoderma, Epidermolytic

Articles related to Palmoplantar Keratoderma, Epidermolytic:

(show top 50) (show all 76)
# Title Authors Year
1
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. ( 27255181 )
2016
2
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation. ( 27864007 )
2016
3
A Spontaneous KRT16 Mutation in a Dog Breed: A Model for Human Focal Non-Epidermolytic Palmoplantar Keratoderma (FNEPPK). ( 25521457 )
2015
4
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma. ( 24862219 )
2014
5
[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma]. ( 24510562 )
2014
6
A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review. ( 24899405 )
2014
7
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9. ( 25299193 )
2014
8
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. ( 23278372 )
2013
9
Diffuse non-epidermolytic palmoplantar keratoderma. ( 24222295 )
2013
10
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9. ( 23397986 )
2013
11
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). ( 23144341 )
2012
12
The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees. ( 22262370 )
2012
13
Case of epidermolytic palmoplantar keratoderma with knuckle pads. ( 21463360 )
2012
14
[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma]. ( 22678789 )
2012
15
Duplication mutation of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma. ( 21489919 )
2011
16
A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. ( 21715251 )
2011
17
A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma. ( 20964665 )
2010
18
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. ( 19874353 )
2010
19
Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes. ( 19451521 )
2009
20
Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred. ( 19548225 )
2009
21
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. ( 17362238 )
2009
22
Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma. ( 19223272 )
2009
23
[Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma]. ( 19953481 )
2009
24
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. ( 18360110 )
2008
25
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma. ( 18477167 )
2008
26
Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma. ( 18573708 )
2008
27
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. ( 17074468 )
2007
28
A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. ( 16961539 )
2006
29
L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma. ( 16911293 )
2006
30
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. ( 16439967 )
2006
31
A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma. ( 15605275 )
2005
32
An insertion-deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma. ( 15840121 )
2005
33
Diagnosis of epidermolytic palmoplantar keratoderma in a very early stage by gene analysis. ( 16361744 )
2005
34
The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses. ( 16043929 )
2005
35
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. ( 15214894 )
2004
36
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. ( 15099359 )
2004
37
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma]. ( 15583984 )
2004
38
Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma. ( 15564199 )
2004
39
A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. ( 15115518 )
2004
40
[Present status of the molecular genetics in epidermolytic palmoplantar keratoderma]. ( 15300637 )
2004
41
De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma. ( 14517588 )
2003
42
A de novo mutation in the keratin 9 gene in a family with epidermolytic palmoplantar keratoderma from northern Sweden. ( 12735645 )
2003
43
Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma. ( 12926810 )
2003
44
Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma. ( 14675368 )
2003
45
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. ( 12838553 )
2003
46
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high- performance liquid chromatography. ( 12072061 )
2002
47
Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. ( 12192490 )
2002
48
Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma. ( 12046815 )
2002
49
A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma. ( 12532041 )
2002
50
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. ( 11286630 )
2001

Variations for Palmoplantar Keratoderma, Epidermolytic

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

71 (show all 21)
# Symbol AA change Variation ID SNP ID
1 KRT9 p.Asn161Lys VAR_003822 rs57536312
2 KRT9 p.Arg163Gln VAR_003823 rs57758262
3 KRT9 p.Arg163Trp VAR_003824 rs59616921
4 KRT9 p.Leu168Ser VAR_003825 rs61157095
5 KRT9 p.Met157Thr VAR_010499 rs59510579
6 KRT9 p.Met157Val VAR_010500 rs58597584
7 KRT9 p.Leu160Val VAR_010501 rs28940896
8 KRT9 p.Asn161Ser VAR_010502 rs56707768
9 KRT9 p.Asn161Tyr VAR_010503 rs59296273
10 KRT9 p.Gln172Pro VAR_010504 rs59878153
11 KRT9 p.Leu160Phe VAR_035438 rs28940896
12 KRT9 p.Val171Met VAR_035439 rs57019720
13 KRT9 p.Met157Arg VAR_036805 rs59510579
14 KRT9 p.Asn161His VAR_036806 rs59296273
15 KRT9 p.Asn161Ile VAR_036807 rs56707768
16 KRT9 p.Arg163Pro VAR_036808 rs57758262
17 KRT9 p.Leu458Phe VAR_036810 rs58120120
18 KRT9 p.Met157Lys VAR_071977 rs59510579
19 KRT9 p.Cys406Arg VAR_071978 rs77688767
20 KRT9 p.Tyr454His VAR_071979 rs267607420
21 KRT9 p.Leu458Pro VAR_071980

ClinVar genetic disease variations for Palmoplantar Keratoderma, Epidermolytic:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT1 KRT1, IVS6, G-A, +1 single nucleotide variant Pathogenic
2 KRT9 NM_000226.3(KRT9): c.487C> T (p.Arg163Trp) single nucleotide variant Pathogenic rs59616921 GRCh37 Chromosome 17, 39727758: 39727758
3 KRT9 NM_000226.3(KRT9): c.515A> C (p.Gln172Pro) single nucleotide variant Pathogenic rs59878153 GRCh37 Chromosome 17, 39727730: 39727730
4 KRT9 NM_000226.3(KRT9): c.481A> T (p.Asn161Tyr) single nucleotide variant Pathogenic rs59296273 GRCh37 Chromosome 17, 39727764: 39727764
5 KRT9 NM_000226.3(KRT9): c.483T> A (p.Asn161Lys) single nucleotide variant Pathogenic rs57536312 GRCh37 Chromosome 17, 39727762: 39727762
6 KRT9 NM_000226.3(KRT9): c.488G> A (p.Arg163Gln) single nucleotide variant Pathogenic rs57758262 GRCh37 Chromosome 17, 39727757: 39727757
7 KRT9 NM_000226.3(KRT9): c.469A> G (p.Met157Val) single nucleotide variant Pathogenic rs58597584 GRCh37 Chromosome 17, 39727776: 39727776
8 KRT9 NM_000226.3(KRT9): c.482A> G (p.Asn161Ser) single nucleotide variant Pathogenic rs56707768 GRCh37 Chromosome 17, 39727763: 39727763
9 KRT9 NM_000226.3(KRT9): c.503T> C (p.Leu168Ser) single nucleotide variant Pathogenic rs61157095 GRCh37 Chromosome 17, 39727742: 39727742
10 KRT9 NM_000226.3(KRT9): c.478C> G (p.Leu160Val) single nucleotide variant Pathogenic rs28940896 GRCh37 Chromosome 17, 39727767: 39727767
11 KRT9 NM_000226.3(KRT9): c.470T> C (p.Met157Thr) single nucleotide variant Pathogenic rs59510579 GRCh37 Chromosome 17, 39727775: 39727775
12 KRT9 NM_000226.3(KRT9): c.511G> A (p.Val171Met) single nucleotide variant Pathogenic rs57019720 GRCh37 Chromosome 17, 39727734: 39727734

Expression for Palmoplantar Keratoderma, Epidermolytic

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Epidermolytic.

Pathways for Palmoplantar Keratoderma, Epidermolytic

Pathways related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 EVPL KRT1 KRT16 KRT17 KRT9
2
Show member pathways
11.48 EVPL KRT1 KRT16 KRT17 KRT9
3
Show member pathways
11.29 EVPL KRT1 KRT16 KRT17

GO Terms for Palmoplantar Keratoderma, Epidermolytic

Cellular components related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.72 EVPL KRT1 KRT16 KRT17 KRT9
2 extracellular exosome GO:0070062 9.35 EVPL KRT1 KRT16 KRT17 KRT9
3 cornified envelope GO:0001533 9.26 EVPL KRT1
4 intermediate filament cytoskeleton GO:0045111 9.16 EVPL KRT17
5 intermediate filament GO:0005882 8.92 KRT1 KRT16 KRT17 KRT9

Biological processes related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.46 EVPL KRT16 KRT17 KRT9
2 keratinocyte differentiation GO:0030216 9.4 EVPL KRT16
3 peptide cross-linking GO:0018149 9.37 EVPL KRT1
4 keratinization GO:0031424 9.35 EVPL KRT1 KRT16 KRT17 KRT9
5 establishment of skin barrier GO:0061436 9.32 KRT1 KRT16
6 intermediate filament organization GO:0045109 9.26 KRT17 KRT9
7 cornification GO:0070268 9.02 EVPL KRT1 KRT16 KRT17 KRT9

Molecular functions related to Palmoplantar Keratoderma, Epidermolytic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 KRT16 KRT17 KRT9
2 structural molecule activity GO:0005198 8.92 EVPL KRT1 KRT16 KRT17

Sources for Palmoplantar Keratoderma, Epidermolytic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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45 NCI
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53 OMIM
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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