Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.200 GeneticVariation disease LHGDN [Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. 12764678 2003
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.200 Biomarker disease LHGDN [Clinical and molecular genetic observations on families with cherubism over three generations]. 12664252 2003
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.070 Biomarker disease BEFREE Yet, MMP-9 - an important factor in tissue remodelling - was elevated in cultures from CRS patients. 26709128 2016
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
0.440 GeneticVariation disease BEFREE While significantly reduced penetrance of craniosynostosis has been reported for the SMAD6 variants as such, near-complete penetrance is reached upon co-occurrence with a common BMP2 SNP risk allele. 30796334 2019
Entrez Id: 545
Gene Symbol: ATR
ATR
0.110 AlteredExpression disease BEFREE Western blot analysis showed that QLQX significantly reduced the expressions of AngII, non-phagocytic cell oxidase (NOX)2, and B-cell lymphoma (Bcl)2 associated X protein (Bax), and increased the expressions of Bcl2 and Angiotensin II Type 1 receptor (ATR) in the kidney as compared with the CRS-C group. 30068867 2018
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
0.010 AlteredExpression disease BEFREE Western blot analysis showed that QLQX significantly reduced the expressions of AngII, non-phagocytic cell oxidase (NOX)2, and B-cell lymphoma (Bcl)2 associated X protein (Bax), and increased the expressions of Bcl2 and Angiotensin II Type 1 receptor (ATR) in the kidney as compared with the CRS-C group. 30068867 2018
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.010 AlteredExpression disease BEFREE Western blot analysis showed that QLQX significantly reduced the expressions of AngII, non-phagocytic cell oxidase (NOX)2, and B-cell lymphoma (Bcl)2 associated X protein (Bax), and increased the expressions of Bcl2 and Angiotensin II Type 1 receptor (ATR) in the kidney as compared with the CRS-C group. 30068867 2018
Entrez Id: 581
Gene Symbol: BAX
BAX
0.010 AlteredExpression disease BEFREE Western blot analysis showed that QLQX significantly reduced the expressions of AngII, non-phagocytic cell oxidase (NOX)2, and B-cell lymphoma (Bcl)2 associated X protein (Bax), and increased the expressions of Bcl2 and Angiotensin II Type 1 receptor (ATR) in the kidney as compared with the CRS-C group. 30068867 2018
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 AlteredExpression disease BEFREE Western blot analysis showed that QLQX significantly reduced the expressions of AngII, non-phagocytic cell oxidase (NOX)2, and B-cell lymphoma (Bcl)2 associated X protein (Bax), and increased the expressions of Bcl2 and Angiotensin II Type 1 receptor (ATR) in the kidney as compared with the CRS-C group. 30068867 2018
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
0.010 Biomarker disease BEFREE We wished to determine if SPARC could represent a serum biomarker for CRS by verifying (1) if SPARC could be detected in serum, (2) whether levels were sensitive to disease burden reduction following surgery, and (3) if it could predict response to therapy. 30274534 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.500 GeneticVariation disease BEFREE We therefore recommend that genetic analysis of the TWIST gene locus, including fluorescence in situ hybridization, should be considered in familial cases of facial and eyelid abnormalities without the presence of craniosynostosis. 15099347 2004
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
0.010 GeneticVariation disease BEFREE We suggested Cornelia de Lange syndrome caused by SMC1A variant is a neglected syndromic craniosynostosis. 29037998 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
0.010 Biomarker disease BEFREE We studied CMV-Msx2Tg+;LDLR+ transgenic mice (C57Bl/6), a model previously demonstrated to recapitulate features of Msx2 signaling during craniosynostosis. 16831933 2006
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.030 GeneticVariation disease BEFREE We sought to investigate the relationship between the DNA methylation level in the IL8 proximal promoter and CRS in Han Chinese subjects. 31330222 2019
Entrez Id: 4586
Gene Symbol: MUC5AC
MUC5AC
0.060 Biomarker disease BEFREE We sought to investigate the expression of pendrin and the mucus-related protein Muc5AC in sinonasal tissues of control subjects and patients with CRS and to evaluate the regulation of pendrin expression in nasal epithelial cells (NECs) in vitro. 26143180 2015
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
0.030 Biomarker disease BEFREE We sought to determine the role of PGDS and PGES in the pathophysiology of chronic rhinosinusitis (CRS). 16911359 2006
Entrez Id: 11251
Gene Symbol: PTGDR2
PTGDR2
0.010 Biomarker disease BEFREE We sought to determine the expression and characterization of DP and CRTH2 in CRS. 18802357 2009
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.030 PosttranslationalModification disease BEFREE We show that inactivation of Jagged1 in the mesodermal compartment of the coronal suture, but not in the neural crest compartment, results in craniosynostosis. 20727876 2010
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
0.020 GeneticVariation disease BEFREE We show that craniosynostosis, which has not been previously reported in association with KAT6B mutations, may be part of the genitopatellar/Say Barber Biesecker Young Simpson spectrum. 28696035 2017
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.410 GeneticVariation disease BEFREE We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome. 24123776 2013
Entrez Id: 801
Gene Symbol: CALM1
CALM1
0.010 Biomarker disease BEFREE We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. 28921242 2018
Entrez Id: 808
Gene Symbol: CALM3
CALM3
0.010 Biomarker disease BEFREE We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. 28921242 2018
Entrez Id: 805
Gene Symbol: CALM2
CALM2
0.010 Biomarker disease BEFREE We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. 28921242 2018
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT
0.010 Biomarker disease BEFREE We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. 28921242 2018
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
0.010 Biomarker disease BEFREE We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. 28921242 2018