Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55670
Gene Symbol: PEX26
PEX26 		0.300 Biomarker disease GENOMICS_ENGLAND Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237 2017
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1 		0.300 Biomarker disease GENOMICS_ENGLAND Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. 26117586 2015
Entrez Id: 326
Gene Symbol: AIRE
AIRE 		0.110 Biomarker disease BEFREE Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-ω) and AIRE sequencing to reveal APS1, even in adults. 27253668 2016
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.110 GeneticVariation disease BEFREE A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region. 27220909 2016
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.110 Biomarker disease LHGDN NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia? 18183042 2008
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		0.110 GeneticVariation disease BEFREE Furthermore, we hypothesized that COL17A1 mutations might underlie or worsen the enamel hypoplasia seen in amelogenesis imperfecta (AI) patients that are characterized by defects in tooth enamel formation without other systemic manifestations. 16820943 2006
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.110 Biomarker disease HPO
Entrez Id: 326
Gene Symbol: AIRE
AIRE 		0.110 Biomarker disease HPO
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3 		0.110 Biomarker disease HPO
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		0.110 Biomarker disease HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.100 Biomarker disease HPO
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.100 Biomarker disease HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.100 Biomarker disease HPO
Entrez Id: 93650
Gene Symbol: ACP4
ACP4 		0.100 Biomarker disease HPO
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.100 Biomarker disease HPO
Entrez Id: 3655
Gene Symbol: ITGA6
ITGA6 		0.100 Biomarker disease HPO
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		0.100 Biomarker disease HPO
Entrez Id: 9076
Gene Symbol: CLDN1
CLDN1 		0.100 Biomarker disease HPO
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		0.100 Biomarker disease HPO
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		0.100 Biomarker disease HPO
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		0.100 Biomarker disease HPO
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		0.100 Biomarker disease HPO
Entrez Id: 83479
Gene Symbol: DDX59
DDX59 		0.100 Biomarker disease HPO
Entrez Id: 57511
Gene Symbol: COG6
COG6 		0.100 Biomarker disease HPO
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3 		0.100 Biomarker disease HPO