Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.140 GeneticVariation disease BEFREE Because histopathologic examination of two independent biopsies did not reveal porokeratotic eccrine ostial and dermal duct nevus (PEODDN), previously reported to result from somatic mutations in GJB2, it appears that mutations in this gene can cause nevoid spiny hyperkeratosis in the context of PEODDN or as an isolated finding. 27087580 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.140 Biomarker disease BEFREE Pharmacological modulators of Cx26 are needed to assess the pathomechanistic involvement of hemichannels in the development of hyperkeratosis in KID syndrome. 25229253 2015
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.140 GeneticVariation disease BEFREE We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. 10633135 2000
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.140 Biomarker disease BEFREE This autosomal dominant PPK is characterized by a diffuse pattern of palmar and plantar hyperkeratosis giving the affected areas a thickened yellowish appearance with a marked erythematous edge. 10536965 1999
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.140 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.130 Biomarker disease BEFREE Our analysis of data has demonstrated that combined BRAF and MEK inhibitor-based treatment is associated with an increased risk of all-grade rash and a decreased risk of all-grade and high-grade HK, SP, alopecia, cSCC, HFS, and PR compared with single BRAF inhibitor alone in melanoma patients. 30501438 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.130 Biomarker disease BEFREE Vemurafenib is a selected BRAF kinase inhibitor approved for treating metastatic or unresectable melanoma, which has numerous cutaneous side effects unfortunately, including three previously reported cases of asymptomatic areola and/or nipple hyperkeratosis. 28211633 2017
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.130 GeneticVariation disease BEFREE Mutational analysis of cutaneous squamous cell carcinomas and verrucal keratosis in patients taking BRAF inhibitors. 22726224 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.130 Biomarker disease HPO
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.120 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen, and extremities. 31586585 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.120 Biomarker disease BEFREE Abca12(-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis with eclabium and skin fissure. 18632686 2008
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 GeneticVariation disease BEFREE We investigated the possible association of ERCC2 codon 751 A-->C polymorphism (lysine to glutamine) with arsenic-induced hyperkeratosis and correlated ERCC2 genotypes with increased frequencies of chromosomal aberration to ascertain whether any genotype leads to sub-optimal DNA repair. 17050553 2007
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 GeneticVariation disease BEFREE However, the increase in hyperkeratosis risk in relation to urinary arsenic measures genotype was borderline significant for urinary total arsenic (P for trend=0.06) and statistically significant for urinary creatinine adjusted arsenic (P for trend=0.01) among subjects with the XPD A allele (AA) but not among subjects with the other XPD genotypes. 12749816 2003
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 Biomarker disease HPO
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.120 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.110 AlteredExpression disease BEFREE Epidermodysplasia verruciformis keratosis and in some cases actinic keratoses demonstrated similar histology associated with β-HPV reactivation and nuclear p63 expression within the HF infundibulum and perifollicular epidermis. 28595997 2017
Entrez Id: 57511
Gene Symbol: COG6
COG6
0.110 GeneticVariation disease BEFREE In spite of clinical variability, we delineate the core features of COG6-CDG i.e. liver involvement (9/10), microcephaly (8/10), developmental disability (8/10), recurrent infections (7/10), early lethality (6/10), and hypohidrosis predisposing for hyperthermia (6/10) and hyperkeratosis (4/10) as ectodermal signs. 26260076 2015
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.110 Biomarker disease BEFREE We conclude that (1) the frequent mutation of p53 and Ha-ras may play a key part in the formation of at least some psoralen + ultraviolet A keratoses; (2) environmental and/or therapeutic ultraviolet exposure may be a major cause of psoralen + ultraviolet A keratosis as most Ha-ras and p53 mutations are induced by ultraviolet light; and (3) psoralen + ultraviolet A itself plays a smaller, though direct, role in causing these mutations. 14962108 2004
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
0.110 AlteredExpression disease BEFREE TGase 1 mRNA was expressed in the granular layer of normal epidermis, regardless of ortho- or hyperkeratosis. 7678985 1993
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
0.110 Biomarker disease HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.110 Biomarker disease HPO
Entrez Id: 57511
Gene Symbol: COG6
COG6
0.110 Biomarker disease HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.110 Biomarker disease HPO
Entrez Id: 79651
Gene Symbol: RHBDF2
RHBDF2
0.100 Biomarker disease BEFREE Collectively, our data suggest that RHBDF2 plays a critical role in regulating EGFR signaling and its downstream events, including development of tylosis, by facilitating enhanced secretion of AREG. 28655741 2017
Entrez Id: 79651
Gene Symbol: RHBDF2
RHBDF2
0.100 GeneticVariation disease BEFREE Mutations in RHBDF2 cause tylosis, a very rare disorder characterized by high life-time risk of ESCC, but no other well-established predisposition genes have been identified. 28165652 2017