Keratinization

No Pathway Network information available for Keratinization

Pathways in the Keratinization SuperPath

#NameSourceGenes
1KeratinizationReactome
(see all 212) (see less)
2Formation of the cornified envelopeReactome

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Keratinization SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Pachyonychia congenita 1EnrichmentKRT16, KRT17, KRT6A, KRT6B8.16
2MonilethrixEnrichmentDSG4, KRT81, KRT83, KRT868.16
3Monilethrix 1EnrichmentKRT81, KRT83, KRT866.12
4Palmoplantar keratoderma, epidermolytic, 1EnrichmentKRT1, KRT16, KRT96.12
5Epidermolytic hyperkeratosis 1EnrichmentKRT1, KRT10, KRT25.12
6Familial woolly hair syndromeEnrichmentKRT25, KRT71, KRT745.12
7Skin diseaseEnrichmentFLG, KRT14, KRT17, TGM14.35
8Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT14, KRT54.07
9Peeling skin syndrome 2EnrichmentCSTA, TGM54.07
10Corneal dystrophy, meesmann, 1EnrichmentKRT12, KRT34.07
11Hypotrichosis simplex of the scalpEnrichmentCDSN, KRT744.07
12White sponge nevusEnrichmentKRT13, KRT44.07
13Monilethrix 2EnrichmentKRT81, KRT864.07
14IchthyosisEnrichmentFLG, ST14, TGM13.92
15Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentDSC2, JUP, PKP23.80
16Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentDSC2, JUP, PKP23.80
17Ectodermal dysplasia 4, hair/nail typeEnrichmentKRT74, KRT853.60
18Peeling skin syndrome 4EnrichmentCSTA, KRT23.60
19Ichthyosis with confettiEnrichmentKRT1, KRT103.60
20Ichthyosis, annular epidermolytic, 1EnrichmentKRT1, KRT103.60
21Peeling skin syndrome 1EnrichmentCDSN, TGM53.60
22Cryptogenic cirrhosisEnrichmentKRT18, KRT83.60
23Annular epidermolytic ichthyosisEnrichmentKRT1, KRT103.60
24Autosomal dominant epidermolytic ichthyosisEnrichmentKRT1, KRT103.60
25Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentDSC2, JUP, PKP23.59
26Arrhythmogenic right ventricular cardiomyopathyEnrichmentDSC2, JUP, PKP23.41
27Epidermolysis bullosa simplex 1b, generalized intermediateEnrichmentKRT14, KRT53.30
28Epidermolysis bullosa simplex generalized typeEnrichmentKRT14, KRT53.30
29Epidermolytic hyperkeratosisEnrichmentKRT1, KRT103.30
30Epidermolysis bullosa simplex 2f, with mottled pigmentationEnrichmentKRT14, KRT53.08
31Epidermolysis bullosa simplex 1a, generalized severeEnrichmentKRT14, KRT53.08
32Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentDSC2, PKP23.08
33Epidermolysis bullosa simplex 1c, localizedEnrichmentKRT14, KRT53.08
34Arrhythmogenic right ventricular dysplasia 1EnrichmentDSC2, PKP23.08
35Epidermolysis bullosa simplexEnrichmentKRT14, KRT52.77
36Erythrokeratodermia variabilis et progressiva 1EnrichmentKRT83, LORICRIN2.64
37Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentDSC2, PKP22.54
38Autosomal recessive congenital ichthyosisEnrichmentLIPN, TGM12.09
39Ichthyosis hystrix, curth-macklin typeEnrichmentKRT12.04
40Dermatopathia pigmentosa reticularisEnrichmentKRT142.04
41Pachyonychia congenita 2EnrichmentKRT172.04
42Woolly hair, autosomal dominantEnrichmentKRT742.04
43Ichthyosis, congenital, autosomal recessive 11EnrichmentST142.04
44Loose anagen hair syndromeEnrichmentKRT752.04
45Palmoplantar keratoderma, nonepidermolyticEnrichmentKRT12.04
46Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP2.04
47Vohwinkel syndrome, variant formEnrichmentLORICRIN2.04
48Ichthyosis bullosa of siemensEnrichmentKRT22.04
49Naegeli-franceschetti-jadassohn syndromeEnrichmentKRT142.04
50Pachyonychia congenita 3EnrichmentKRT6A2.04
51Ichthyosis, congenital, autosomal recessive 12EnrichmentCASP142.04
52Pseudofolliculitis barbaeEnrichmentKRT752.04
53Steatocystoma multiplexEnrichmentKRT172.04
54White sponge nevus 1EnrichmentKRT42.04
55Naxos diseaseEnrichmentJUP2.04
56Abdominal obesity-metabolic syndrome 4EnrichmentCELA2A2.04
57Uncombable hair syndrome 3EnrichmentTCHH2.04
58Ichthyosis, annular epidermolytic, 2EnrichmentKRT12.04
59Pulmonary hypertension, primary, 6EnrichmentCAPNS12.04
60Erythrokeratodermia variabilis et progressiva 5EnrichmentKRT832.04
61Palmoplantar keratoderma, nonepidermolytic, focal or diffuseEnrichmentKRT6C2.04
62Netherton syndromeEnrichmentSPINK52.04
63Keratosis palmoplantaris striata iiiEnrichmentKRT12.04
64White sponge nevus 2EnrichmentKRT132.04
65Hypotrichosis and recurrent skin vesiclesEnrichmentDSC32.04
66Hypotrichosis 3EnrichmentKRT742.04
67Ichthyosis, congenital, autosomal recessive 8EnrichmentLIPN2.04
68Monilethrix 3EnrichmentKRT832.04
69Pachyonychia congenita 4EnrichmentKRT6B2.04
70Olmsted syndrome 2EnrichmentPERP2.04
71Hypotrichosis 13EnrichmentKRT712.04
72Ectodermal dysplasia 7, hair/nail typeEnrichmentKRT742.04
73Erythrokeratodermia variabilis et progressiva 7EnrichmentPERP2.04
74Blistering, acantholytic, of oral and laryngeal mucosaEnrichmentDSG32.04
75Hereditary hypotrichosis with recurrent skin vesiclesEnrichmentDSC32.04
76Palmoplantar keratoderma, epidermolytic, 2EnrichmentKRT12.04
77Ichthyosis linearis circumflexaEnrichmentSPINK52.04
78Focal palmoplantar keratodermaEnrichmentKRT6C2.04
79Autosomal recessive epidermolytic ichthyosisEnrichmentKRT102.04
80Acral self-healing collodion babyEnrichmentTGM12.04
81Hypotrichosis 2EnrichmentCDSN1.74
82Ichthyosis hystrix, lambert typeEnrichmentKRT101.74
83Ichthyosis vulgarisEnrichmentFLG1.74
84Arrhythmogenic right ventricular dysplasia, familial, 11EnrichmentDSC21.74
85Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathyEnrichmentKRT11.74
86Epidermolysis bullosa simplex 2e, with migratory circinate erythemaEnrichmentKRT51.74
87Dermatitis, atopic, 2EnrichmentFLG1.74
88Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.74
89Palmoplantar keratoderma, nonepidermolytic, focal 1EnrichmentKRT161.74
90Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT51.74
91Sjogren-larsson syndromeEnrichmentKRT141.74
92Epidermolytic hyperkeratosis 2a, autosomal dominantEnrichmentKRT101.74
93Corneal dystrophy, meesmann, 2EnrichmentKRT31.74
94Ichthyosis, x-linkedEnrichmentFLG1.74
95Hypotrichosis 6EnrichmentDSG41.74
96DermatitisEnrichmentFLG1.74
97Epidermolytic acanthomaEnrichmentKRT101.74
98Epidermolysis bullosa simplex 2a, generalized severeEnrichmentKRT51.74
99Ichthyosis, congenital, autosomal recessive 1EnrichmentTGM11.56
100Nail disorder, nonsyndromic congenital, 4EnrichmentKRT171.56
101Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.56
102Woolly hair, autosomal recessive 3EnrichmentKRT251.56
103Epidermolysis bullosa simplex 2b, generalized intermediateEnrichmentKRT51.56
104Epidermolytic hyperkeratosis 2b, autosomal recessiveEnrichmentKRT101.56
105Hypotrichosis 8EnrichmentKRT251.56
106Keratosis palmoplantaris striataEnrichmentKRT11.56
107Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentPERP1.56
108Epidermolysis bullosa simplex 2c, localizedEnrichmentKRT51.56
109Palmoplantar keratosisEnrichmentKRT91.56
110Self-improving collodion babyEnrichmentTGM11.56
111Otitis mediaEnrichmentSPINK51.44
112Dowling-degos disease 1EnrichmentKRT51.44
113Dermatitis, atopicEnrichmentFLG1.44
114Dowling-degos diseaseEnrichmentKRT51.44
115Epidermolytic nevusEnrichmentKRT101.44
116Coronary artery anomalyEnrichmentCELA2A1.44
117Epidermolysis bullosaEnrichmentKRT51.34
118Inherited arrhythmogenic cardiomyopathyEnrichmentPKP21.27
119Paroxysmal dystoniaEnrichmentFLG1.20
120Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentPKP21.10
121Hypotrichosis simplexEnrichmentDSG41.10
122Congenital nonbullous ichthyosiform erythrodermaEnrichmentTGM11.05
123Diabetes mellitusEnrichmentCELA2A1.01
124Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentFLG0.86
125Wolff-parkinson-white syndromeEnrichmentJUP0.86
126HypertensionEnrichmentCELA2A0.86
127Cardiomyopathy, dilated, 1eEnrichmentPKP20.84
128Cardiomyopathy, dilated, 1aEnrichmentDSC20.75
129Brugada syndromeEnrichmentPKP20.67
130Long qt syndrome 1EnrichmentPKP20.61
131Left ventricular noncompactionEnrichmentPKP20.56
132Hypertrophic cardiomyopathyEnrichmentPKP20.48
133Dilated cardiomyopathyEnrichmentJUP0.28
134MicrocephalyEnrichmentFLG0.17

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