Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
0.030 GeneticVariation group BEFREE Punctate palmoplantar keratoderma (PPKP1; Buschke-Fischer-Brauer) is a rare autosomal dominant inherited skin disease characterized by multiple hyperkeratotic papules involving the palms and soles. 26608363 2016
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
0.030 Biomarker group BEFREE The function of AAGAB is abrogated by a mutation that causes punctate palmoplantar keratoderma type 1 (PPKP1), a human skin disease. 31353312 2019
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
0.030 GeneticVariation group BEFREE The yeast clathrin adaptor-interacting protein Irc6 is an orthologue of human p34, which is mutated in the inherited skin disorder punctate palmoplantar keratoderma type I. Irc6 and p34 bind to clathrin adaptor complexes AP-1 and AP-2 and are members of a conserved family characterized by a two-domain architecture. 30872642 2019
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.030 GeneticVariation group BEFREE Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. 15756637 2005
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.030 GeneticVariation group BEFREE In summary, ABCA12‑associated mutations or alterations in expression may exhibit causative or contributive effects to the development of keratinized dermatoses, including KP and NC. 30066947 2018
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
0.030 GeneticVariation group BEFREE Harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. 30925591 2019
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
0.010 Biomarker group LHGDN This pilot study shows elastic fibers similar to those of PXE in the lesional skin of patients with a variety of inflammatory skin diseases in the absence of clinical evidence of PXE; and some of these patients harbor changes in ABCC6. 17880583 2007
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
0.010 Biomarker group BEFREE This pilot study shows elastic fibers similar to those of PXE in the lesional skin of patients with a variety of inflammatory skin diseases in the absence of clinical evidence of PXE; and some of these patients harbor changes in ABCC6. 17880583 2007
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.010 Biomarker group BEFREE Previously, we and others have shown that mutations in the ABCA12 gene encoding an adenosine triphosphate-binding cassette (ABC) transporter underlie the skin disease HI. 16902423 2006
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 Biomarker group BEFREE We searched for the terms "calcium-channel blockers" or "angiotensin-converting enzyme inhibitors" or "angiotensin II receptors blockers" or "diuretics" or "beta blockers" AND "dermatological effects" or "skin disease". 31195782 2019
Entrez Id: 2532
Gene Symbol: ACKR1
ACKR1
0.020 AlteredExpression group BEFREE In addition to the chemokine receptor protein Duffy blood group antigen receptor for chemokines, these factors include the constitutively expressed chemokine CCL27, which is responsible for the accumulation of pathogenic CCR10+ T lymphocytes in human inflammatory skin diseases. 18772332 2008
Entrez Id: 2532
Gene Symbol: ACKR1
ACKR1
0.020 Biomarker group BEFREE Here, we show that the tumor necrosis factor (TNF) superfamily protein LIGHT (homologous to lymphotoxin, exhibits inducible expression, and competes with HSV glycoprotein D for binding to HVEM, a receptor expressed on T lymphocytes) is required for experimental atopic dermatitis, and LIGHT directly controls keratinocyte hyperplasia, and production of periostin, a matricellular protein that contributes to the clinical features of atopic dermatitis as well as other skin diseases such as scleroderma. 29339444 2018
Entrez Id: 49
Gene Symbol: ACR
ACR
0.010 Biomarker group BEFREE Thirty-three consecutive patients (28 women and 5 men, mean age 59±21years) affected by SSc according to the ACR/EULAR criteria, 30 with limited (lcSSc) and 3 with diffuse (dcSSc) skin disease, displaying the presence of skin TAs on face, hands, forearms, neck, and décolleté were recruited. 27989404 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker group BEFREE An actin remodeling protein, Flightless I (Flii), has been shown to promote development of inflammatory mediated skin conditions and impairment of skin barrier development and function. 30147695 2018
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.010 Biomarker group BEFREE Considering the critical role of IL-6 in cutaneous inflammation, our findings provide the basis for the application of 12-HHT as a potential anti-inflammatory therapeutic agent in UV-induced skin diseases. 22391335 2012
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.030 GeneticVariation group BEFREE Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. 31423758 2019
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.030 GeneticVariation group BEFREE Dyschromatosis symmetrica hereditaria (DSH, MIM 127400) is a dominantly inherited skin disease associated with mutations in ADAR, the gene that encodes a double-stranded RNA-specific adenosine deaminase. 16536805 2006
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.030 GeneticVariation group BEFREE Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. 24950769 2014
Entrez Id: 116
Gene Symbol: ADCYAP1
ADCYAP1
0.010 Biomarker group BEFREE Mrgprs and transient receptor potential vanilloid 4 (TRPV4) are crucial for the generation of skin diseases like rosacea, while SP, CGRP, somatostatin, β-endorphin, vasoactive intestinal peptide (VIP), and pituitary adenylate cyclase-activating polypeptide (PACAP) can modulate the immune system during psoriasis development. 29713744 2018
Entrez Id: 177
Gene Symbol: AGER
AGER
0.010 GeneticVariation group BEFREE Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM. 11457670 2001
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 Biomarker group BEFREE We searched for the terms "calcium-channel blockers" or "angiotensin-converting enzyme inhibitors" or "angiotensin II receptors blockers" or "diuretics" or "beta blockers" AND "dermatological effects" or "skin disease". 31195782 2019
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
0.010 Biomarker group BEFREE As an intensive risk-factor reduction is recommended for psoriasis patients, we aimed to elucidate the impact of the angiotensin II receptor type 1 (AT1) antagonist telmisartan in a mouse model of severe psoriasis-like skin disease. 31480330 2019
Entrez Id: 196
Gene Symbol: AHR
AHR
0.100 Biomarker group BEFREE Bacterial, fungal, and plant metabolites are promising sources of small molecules for drug discovery.Smith et al. show that tapinarof, a bacteria-derived polyphenol, is an aryl hydrocarbon receptor ligand that attenuated inflammatory responses and shows therapeutic potential for inflammatory skin diseases. 28941474 2017
Entrez Id: 196
Gene Symbol: AHR
AHR
0.100 Biomarker group BEFREE Indeed, while the blocking the AhR signalling activity could prevent or treat skin cancer, the AhR activation seems to be advantageous for the treatment of inflammatory skin diseases. 29857917 2018
Entrez Id: 196
Gene Symbol: AHR
AHR
0.100 Biomarker group BEFREE Activation of the aryl hydrocarbon receptor dampens the severity of inflammatory skin conditions. 24909886 2014