Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.110 GeneticVariation disease BEFREE We report a pediatric patient who initially presented with hypogammaglobulinemia and alopecia totalis, who was identified to have a de novo NFKB2 mutation at one year of age. 31150062 2019
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.110 Biomarker disease HPO
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
0.100 Biomarker disease HPO
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
0.100 Biomarker disease HPO
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
0.100 Biomarker disease HPO
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.030 Biomarker disease BEFREE In this study, we examined the VDR in a young girl with clinical features of HVDRR including rickets, hypophosphatemia, and elevated serum 1,25(OH)(2)D. The girl also had total alopecia. 19049339 2009
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.030 Biomarker disease BEFREE VDR-deficient mice, but not vitamin D- or 1alpha-hydroxylase-deficient mice, and man develop total alopecia, indicating that the function of the VDR and its ligand is not fully overlapping. 18694980 2008
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.030 Biomarker disease BEFREE The fact that she did not develop total alopecia despite of no VDR ligand-binding domain supports that VDR function on hair cycling is ligand independent. 16946620 2006
Entrez Id: 55270
Gene Symbol: NUDT15
NUDT15
0.010 GeneticVariation disease BEFREE All the three patients with NUDT15 c.415C>T homozygous variant suffered from alopecia totalis, and two of them experienced severe systemic infection. 26735160 2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.010 GeneticVariation disease BEFREE We found no association between the AIRE G961G variant and mild (patchy) alopecia areata or alopecia totalis. 12542742 2002
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
0.010 GeneticVariation disease BEFREE IL-1RN*2 allele was not associated with alopecia totalis and alopecia universalis. 11841553 2002
Entrez Id: 3761
Gene Symbol: KCNJ4
KCNJ4
0.010 GeneticVariation disease BEFREE Congenital atrichia with papular lesions is a rare, autosomal recessive form of total alopecia and mutations in the hairless (hir) gene have been implicated in this disorder. 11886538 2001
Entrez Id: 7290
Gene Symbol: HIRA
HIRA
0.010 GeneticVariation disease BEFREE Congenital atrichia with papular lesions is a rare, autosomal recessive form of total alopecia and mutations in the hairless (hir) gene have been implicated in this disorder. 11886538 2001
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
0.010 Biomarker disease BEFREE HLA-DR11 (DRB1*1104) and HLA-DQ7 (DQB1*0301) were found to be highly significantly increased in frequency in patients with long-standing AT/AU (group III) but not in patients with long-standing patchy AA (group II); both patient groups showed increased frequencies of HLA-DQ3 (DQB1*03). 7593774 1995
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.010 Biomarker disease BEFREE HLA-DR11 (DRB1*1104) and HLA-DQ7 (DQB1*0301) were found to be highly significantly increased in frequency in patients with long-standing AT/AU (group III) but not in patients with long-standing patchy AA (group II); both patient groups showed increased frequencies of HLA-DQ3 (DQB1*03). 7593774 1995
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.010 Biomarker disease BEFREE HLA-DR11 (DRB1*1104) and HLA-DQ7 (DQB1*0301) were found to be highly significantly increased in frequency in patients with long-standing AT/AU (group III) but not in patients with long-standing patchy AA (group II); both patient groups showed increased frequencies of HLA-DQ3 (DQB1*03). 7593774 1995