Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1 		0.110 GeneticVariation disease BEFREE This is the first report that mutations in ADAMTSL1 are responsible for the pathogenesis of mandibular prognathism. 30714143 2019
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.110 GeneticVariation disease BEFREE We also identified 3 variants: rs13317 in FGFR1, rs149242678 in FGF20, and rs79176051 FGF12 associated with MP (P < .05). 28640125 2017
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.110 Biomarker disease BEFREE There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. 25118028 2015
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.110 AlteredExpression disease BEFREE MYH3 was up-regulated in prognathia (8.5, P<0.001) and in retrognathia (2.8, P<0.043). 20673635 2011
Entrez Id: 4626
Gene Symbol: MYH8
MYH8 		0.110 AlteredExpression disease BEFREE MYH8 was up-regulated in retrognathia only (4.0, P<0.063) and down-regulated in prognathia (-1.6). 20673635 2011
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1 		0.110 Biomarker disease HPO
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.110 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.110 Biomarker disease HPO
Entrez Id: 4626
Gene Symbol: MYH8
MYH8 		0.110 Biomarker disease HPO
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.110 Biomarker disease HPO
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		0.100 Biomarker disease HPO
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.100 Biomarker disease HPO
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		0.100 Biomarker disease HPO
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		0.100 Biomarker disease HPO
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		0.100 Biomarker disease HPO
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		0.100 Biomarker disease HPO
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 Biomarker disease HPO
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.100 Biomarker disease HPO
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		0.100 Biomarker disease HPO
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		0.100 Biomarker disease HPO
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		0.100 Biomarker disease HPO
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		0.100 Biomarker disease HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation disease CLINVAR