Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 6897
Gene Symbol: TARS1
TARS1
0.100 Biomarker disease HPO
Entrez Id: 147409
Gene Symbol: DSG4
DSG4
0.100 Biomarker disease HPO
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
0.100 Biomarker disease HPO
Entrez Id: 435
Gene Symbol: ASL
ASL
0.100 Biomarker disease HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
0.100 Biomarker disease HPO
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker disease HPO
Entrez Id: 1041
Gene Symbol: CDSN
CDSN
0.100 Biomarker disease HPO
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
0.100 Biomarker disease HPO
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.100 Biomarker disease HPO
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
0.100 Biomarker disease HPO
Entrez Id: 6228
Gene Symbol: RPS23
RPS23
0.100 Biomarker disease HPO
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
0.100 Biomarker disease HPO
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
0.100 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 Biomarker disease HPO
Entrez Id: 10484
Gene Symbol: SEC23A
SEC23A
0.100 Biomarker disease HPO
Entrez Id: 3889
Gene Symbol: KRT83
KRT83
0.100 Biomarker disease HPO
Entrez Id: 147183
Gene Symbol: KRT25
KRT25
0.100 Biomarker disease HPO
Entrez Id: 10161
Gene Symbol: LPAR6
LPAR6
0.100 Biomarker disease HPO
Entrez Id: 200879
Gene Symbol: LIPH
LIPH
0.100 Biomarker disease HPO