Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.100 Biomarker disease HPO
Entrez Id: 6768
Gene Symbol: ST14
ST14 		0.100 Biomarker disease HPO
Entrez Id: 9652
Gene Symbol: TTC37
TTC37 		0.100 Biomarker disease HPO
Entrez Id: 2961
Gene Symbol: GTF2E2
GTF2E2 		0.100 Biomarker disease HPO
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.100 Biomarker disease HPO
Entrez Id: 1896
Gene Symbol: EDA
EDA 		0.100 Biomarker disease HPO
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.100 Biomarker disease HPO
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.100 Biomarker disease HPO
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		0.100 Biomarker disease HPO
Entrez Id: 3887
Gene Symbol: KRT81
KRT81 		0.100 Biomarker disease HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.100 Biomarker disease HPO
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1 		0.100 Biomarker disease HPO
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		0.100 Biomarker disease HPO
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A 		0.100 Biomarker disease HPO
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.100 Biomarker disease HPO
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L 		0.100 Biomarker disease HPO
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5 		0.100 Biomarker disease HPO
Entrez Id: 121391
Gene Symbol: KRT74
KRT74 		0.100 Biomarker disease HPO
Entrez Id: 112802
Gene Symbol: KRT71
KRT71 		0.100 Biomarker disease HPO
Entrez Id: 136647
Gene Symbol: MPLKIP
MPLKIP 		0.100 Biomarker disease HPO
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.100 Biomarker disease HPO
Entrez Id: 3891
Gene Symbol: KRT85
KRT85 		0.100 Biomarker disease HPO
Entrez Id: 1896
Gene Symbol: EDA
EDA 		0.100 CausalMutation disease CLINVAR
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2 		0.010 GeneticVariation disease BEFREE The consequences of a defect in one of the NER proteins are apparent from three rare recessive syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and the photosensitive form of the brittle hair disorder trichothiodystrophy (TTD). 10688865 2000