Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		0.120 GeneticVariation disease BEFREE All six patients with TGM1 mutations were born with collodion membrane and had ectropion and eclabium, while none of the patients with ABCA12 mutations had these features. 27061915 2016
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		0.120 GeneticVariation disease BEFREE The genotype-phenotype investigation found that ARCI with TGM1 mutations was significantly associated with presence of collodion membrane at birth (p = 0.006), ectropion (p = 0.001), plate-like scales (p = 0.005) and alopecia (p = 0.001). 18948357 2009
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		0.120 Biomarker disease HPO
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.110 GeneticVariation disease BEFREE All six patients with TGM1 mutations were born with collodion membrane and had ectropion and eclabium, while none of the patients with ABCA12 mutations had these features. 27061915 2016
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.110 Biomarker disease HPO
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		0.100 Biomarker disease HPO
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4 		0.100 Biomarker disease HPO
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP 		0.100 Biomarker disease HPO
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		0.100 Biomarker disease HPO
Entrez Id: 7133
Gene Symbol: TNFRSF1B
TNFRSF1B 		0.100 Biomarker disease HPO
Entrez Id: 2313
Gene Symbol: FLI1
FLI1 		0.100 Biomarker disease HPO
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		0.100 Biomarker disease HPO
Entrez Id: 285848
Gene Symbol: PNPLA1
PNPLA1 		0.100 Biomarker disease HPO
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1 		0.100 Biomarker disease HPO
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1 		0.100 Biomarker disease HPO
Entrez Id: 348938
Gene Symbol: NIPAL4
NIPAL4 		0.100 Biomarker disease HPO
Entrez Id: 2623
Gene Symbol: GATA1
GATA1 		0.100 Biomarker disease HPO
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4 		0.100 Biomarker disease HPO
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B 		0.100 Biomarker disease HPO
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5 		0.100 Biomarker disease HPO
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		0.100 Biomarker disease HPO
Entrez Id: 7507
Gene Symbol: XPA
XPA 		0.100 Biomarker disease HPO
Entrez Id: 940
Gene Symbol: CD28
CD28 		0.100 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC 		0.100 Biomarker disease HPO