Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1041
Gene Symbol: CDSN
CDSN
0.050 GeneticVariation disease BEFREE Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. 12754508 2003
Entrez Id: 147495
Gene Symbol: APCDD1
APCDD1
0.530 GeneticVariation disease BEFREE Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. 19751230 2010
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
0.010 GeneticVariation disease BEFREE Hereditary hypotrichosis simplex (MIM 146520, HHS) is a rare form of nonsyndromic alopecia. 19751230 2010
Entrez Id: 147495
Gene Symbol: APCDD1
APCDD1
0.530 GeneticVariation disease BEFREE APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 20393562 2010
Entrez Id: 147495
Gene Symbol: APCDD1
APCDD1
0.530 Biomarker disease CTD_human APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 20393562 2010
Entrez Id: 147495
Gene Symbol: APCDD1
APCDD1
0.530 GermlineCausalMutation disease ORPHANET APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. 20393562 2010
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.020 Biomarker disease BEFREE CCN2 mediates the pro-fibrotic effects in hypertrophic scars (HTSs) through an unknown mechanism. 25174803 2014
Entrez Id: 4157
Gene Symbol: MC1R
MC1R
0.010 GeneticVariation disease BEFREE MC1R SNP R163Q was also significantly (P<0.001) associated with severe HTS. 26030184 2015
Entrez Id: 200879
Gene Symbol: LIPH
LIPH
0.440 Biomarker disease BEFREE A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. 18820939 2009
Entrez Id: 1041
Gene Symbol: CDSN
CDSN
0.050 GeneticVariation disease BEFREE A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. 16307662 2005
Entrez Id: 200879
Gene Symbol: LIPH
LIPH
0.440 GermlineCausalMutation disease ORPHANET A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 18445047 2008
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 AlteredExpression disease BEFREE ADRC treatment was associated with modulation of IL-6 expression within the wound/scar with upregulation 2 weeks after injury (wound healing phase) and downregulation at 2 months (early scarring phase) post-treatment compared to control CONCLUSIONS: These findings support the potential therapeutic value of autologous ADRC administration for reduction of HTS development following deep-partial cutaneous injury. 29141687 2017
Entrez Id: 200879
Gene Symbol: LIPH
LIPH
0.440 CausalMutation disease CLINVAR Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. 25201209 2014
Entrez Id: 9588
Gene Symbol: PRDX6
PRDX6
0.010 Biomarker disease BEFREE Confirmatory quantitative reverse transcription polymerase chain reaction and immunofluorescence of ROS scavengers: superoxide dismutase 1, microsomal glutathione S-transferase 1, and peroxiredoxin 6 were performed throughout wound healing and HTS development. 31302330 2019
Entrez Id: 10671
Gene Symbol: DCTN6
DCTN6
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 51014
Gene Symbol: TMED7
TMED7
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 115482696
Gene Symbol: H3P23
H3P23
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 353376
Gene Symbol: TICAM2
TICAM2
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 3429
Gene Symbol: IFI27
IFI27
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 5715
Gene Symbol: PSMD9
PSMD9
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 100302736
Gene Symbol: TMED7-TICAM2
TMED7-TICAM2
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 10534
Gene Symbol: ZNRD2
ZNRD2
0.010 GeneticVariation disease BEFREE Consistent with literature, the p27 variant SNP had an allele frequency of 40%, but was not associated with reduced HTS formation or lower itch scores in any genetic model. 23966119 2014
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.010 AlteredExpression disease BEFREE ELISA demonstrated protein levels for prostaglandin E2, interleukin (IL)-6, IL-8 and monocyte chemotactic protein-1 (MCP-1) were significantly increased in HTS fibroblasts compared to normal. 20945369 2011
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.010 AlteredExpression disease BEFREE ELISA demonstrated protein levels for prostaglandin E2, interleukin (IL)-6, IL-8 and monocyte chemotactic protein-1 (MCP-1) were significantly increased in HTS fibroblasts compared to normal. 20945369 2011
Entrez Id: 200879
Gene Symbol: LIPH
LIPH
0.440 CausalMutation disease CLINVAR Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. 25271093 2014