×
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
Keratoderma, Palmoplantar
0.620
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
Keratoderma, Palmoplantar
0.580
Biomarker
GENOMICS_ENGLAND
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
19120323 2009
×
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1
Keratoderma, Palmoplantar
0.580
Biomarker
GENOMICS_ENGLAND
[Meleda-type palmo-plantar keratoderma is caused by mutations in the gene coding the SLURP protein].
15026760 2004
×
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
Keratoderma, Palmoplantar
0.500
Biomarker
GENOMICS_ENGLAND
The identical splice mutation was previously reported in a family with palmoplantar keratoderma and mild ichthyosis, and was demonstrated to result in a 22 amino-acid deletion p.Val175_Lys196del in the H1 and 1A domains of K1 .
17255957 2007
×
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
Keratoderma, Palmoplantar
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 1828
Gene Symbol: DSG1
DSG1
Keratoderma, Palmoplantar
0.470
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 3857
Gene Symbol: KRT9
KRT9
Keratoderma, Palmoplantar
0.470
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
Keratoderma, Palmoplantar
0.450
Biomarker
GENOMICS_ENGLAND
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
25398053 2015
×
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
Keratoderma, Palmoplantar
0.450
Biomarker
GENOMICS_ENGLAND
Extensive lentigo simplex, linear epidermolytic naevus and epidermolytic naevus comedonicus caused by a somatic mutation in KRT10.
25495838 2015
×
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
Keratoderma, Palmoplantar
0.450
Biomarker
GENOMICS_ENGLAND
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma .
16891658 2006
×
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
Keratoderma, Palmoplantar
0.450
Biomarker
GENOMICS_ENGLAND
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
7508181 1994
SERPINB7
Keratoderma, Palmoplantar
0.450
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
Keratoderma, Palmoplantar
0.450
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
Keratoderma, Palmoplantar
0.440
Biomarker
GENOMICS_ENGLAND
Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin C activity secondary to mutations in the cathepsin C gene.
11106356 2000
×
Entrez Id: 284654
Gene Symbol: RSPO1
RSPO1
Keratoderma, Palmoplantar
0.420
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 286887
Gene Symbol: KRT6C
KRT6C
Keratoderma, Palmoplantar
0.410
Biomarker
GENOMICS_ENGLAND
SMARCAD1
Keratoderma, Palmoplantar
0.400
Biomarker
GENOMICS_ENGLAND
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
24909267 2014
SMARCAD1
Keratoderma, Palmoplantar
0.400
Biomarker
GENOMICS_ENGLAND
Analysis of two candidate genes for Basan syndrome.
24664640 2014
×
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
Keratoderma, Palmoplantar
0.400
Biomarker
GENOMICS_ENGLAND
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
9804355 1998
×
Entrez Id: 362
Gene Symbol: AQP5
AQP5
Keratoderma, Palmoplantar
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 644815
Gene Symbol: FAM83G
FAM83G
Keratoderma, Palmoplantar
0.300
Biomarker
GENOMICS_ENGLAND
Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.
29138053 2018