Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 GeneticVariation disease BEFREE Mutations in NCSTN gene (encoding for nicastrin protein) are associated with hidradenitis suppurativa (HS), a chronic inflammatory disease involving hair follicles. 29968387 2018
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 GeneticVariation disease BEFREE In conclusion, we identified a novel deletion mutation in exon 4 of NCSTN, which may underlie the molecular pathogenesis in this AI family. 30030622 2018
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 GeneticVariation disease BEFREE Altered signalling pathways were further confirmed by real-time polymerase chain reaction, Western blotting and immunohistochemistry in both HaCaT cells and lesions of a patient with AI with NCSTN mutation. 26473517 2016
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 GeneticVariation disease BEFREE Therefore, we conclude that haploinsufficiency of the NCSTN gene caused by the nonsense mutation c.1258C>T (p.Q420X) contributes to the occurrence of HS in this family. 26224166 2015
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 GeneticVariation disease BEFREE A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa. 22834455 2013
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 Biomarker disease GENOMICS_ENGLAND Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa). 22622421 2012
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 GeneticVariation disease BEFREE Two novel mutations of the nicastrin gene in Chinese patients with acne inversa. 21495993 2011
Entrez Id: 23385
Gene Symbol: NCSTN
NCSTN 		0.460 Biomarker disease HPO
Entrez Id: 55851
Gene Symbol: PSENEN
PSENEN 		0.420 Biomarker disease GENOMICS_ENGLAND A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. 28922471 2018
Entrez Id: 55851
Gene Symbol: PSENEN
PSENEN 		0.420 GeneticVariation disease BEFREE A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN. 28922471 2018
Entrez Id: 55851
Gene Symbol: PSENEN
PSENEN 		0.420 GeneticVariation disease BEFREE Thus, the present report describes a DDD subphenotype in PSENEN mutation carriers that is associated with increased susceptibility to AI. 28287404 2017
Entrez Id: 55851
Gene Symbol: PSENEN
PSENEN 		0.420 Biomarker disease GENOMICS_ENGLAND We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase multiprotein complex. 20929727 2010
Entrez Id: 55851
Gene Symbol: PSENEN
PSENEN 		0.420 Biomarker disease HPO
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.330 Biomarker disease BEFREE C3a and C5a are associated with activation of the NLRP3 inflammasome, implicated in the inflammatory drive in HS. 31688984 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.330 AlteredExpression disease BEFREE In skin keratinocytes, lymphocytes, and monocytes, but not in neutrophils, P2X7R and NLRP3 protein expression was significantly increased in HS versus the HC group. 31454821 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.330 AlteredExpression disease BEFREE Furthermore, in HS, there is dysregulated function of other immune players closely associated with macrophage function including: matrix metalloproteases (MMP) 2 and 9 overexpression, toll-like receptor upregulation, impaired Notch signalling, NLRP3 inflammasome upregulation, and dysregulated keratinocyte function. 28656364 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.330 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.310 GeneticVariation disease BEFREE The odds ratios (ORs) for pathogenic MEFV mutations were calculated using data from these patients with HS and 191 healthy controls. 30488432 2019
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.310 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
Entrez Id: 9051
Gene Symbol: PSTPIP1
PSTPIP1 		0.300 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
Entrez Id: 64127
Gene Symbol: NOD2
NOD2 		0.300 Biomarker disease CTD_human Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation. 27106250 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.300 Biomarker disease CTD_human Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 16172043 2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.110 GeneticVariation disease BEFREE We have also examined the effects of the HS-linked PSEN1-P242LfsX11 mutation on cytokine and chemokine expression in macrophages. 30544224 2019
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.110 Biomarker disease HPO
Entrez Id: 7124
Gene Symbol: TNF
TNF 		0.100 Biomarker disease BEFREE In CD fistulas, Th1, Th17, IL-17, IFN-ɤ, TNF and IL-23 are increased.US imaging is an important tool in HS. 31519056 2020