Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 435
Gene Symbol: ASL
ASL
0.100 Biomarker disease HPO
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
0.100 Biomarker disease HPO
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.100 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 Biomarker disease HPO
Entrez Id: 833
Gene Symbol: CARS1
CARS1
0.300 Biomarker disease GENOMICS_ENGLAND Compared to subjects with previously reported ARS-related diseases, individuals with bi-allelic CARS variants are unique in presenting with a brittle-hair-and-nail phenotype, which most likely reflects the high cysteine content in human keratins. 30824121 2019
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker disease HPO
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.100 Biomarker disease HPO
Entrez Id: 1041
Gene Symbol: CDSN
CDSN
0.100 Biomarker disease HPO
Entrez Id: 147409
Gene Symbol: DSG4
DSG4
0.100 Biomarker disease HPO
Entrez Id: 1896
Gene Symbol: EDA
EDA
0.100 Biomarker disease HPO
Entrez Id: 1896
Gene Symbol: EDA
EDA
0.100 CausalMutation disease CLINVAR
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 GeneticVariation disease BEFREE The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. 9651581 1998
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 Biomarker disease HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.120 GeneticVariation disease BEFREE Besides XP, mutations in XPD can cause another seemingly unrelated syndrome, trichothiodystrophy (TTD), characterized by sulfur-deficient brittle hair, ichthyosis, and physical and mental retardation. 7629061 1995
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
0.110 GeneticVariation disease BEFREE The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH. 9651581 1998
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
0.110 Biomarker disease HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.100 Biomarker disease HPO
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
0.100 Biomarker disease HPO
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2
0.100 Biomarker disease HPO
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker disease HPO
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
0.100 Biomarker disease HPO
Entrez Id: 112802
Gene Symbol: KRT71
KRT71
0.100 Biomarker disease HPO
Entrez Id: 121391
Gene Symbol: KRT74
KRT74
0.100 Biomarker disease HPO
Entrez Id: 3887
Gene Symbol: KRT81
KRT81
0.100 Biomarker disease HPO