Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.420 GeneticVariation disease BEFREE Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. 11743367 2001
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.420 GermlineCausalMutation disease ORPHANET A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 10914960 2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.420 GeneticVariation disease BEFREE To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. 9580776 1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.420 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.400 GermlineCausalMutation disease ORPHANET Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. 26340333 2015
Entrez Id: 6938
Gene Symbol: TCF12
TCF12 		0.400 GermlineCausalMutation disease ORPHANET Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 23354436 2013
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.400 GermlineCausalMutation disease ORPHANET Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 17343269 2007
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.400 Biomarker disease HPO
Entrez Id: 6938
Gene Symbol: TCF12
TCF12 		0.400 Biomarker disease HPO
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.400 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.110 GeneticVariation disease BEFREE A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842 1997
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.110 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.100 Biomarker disease HPO
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		0.100 Biomarker disease HPO
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		0.100 Biomarker disease HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 Biomarker disease HPO
Entrez Id: 1807
Gene Symbol: DPYS
DPYS 		0.100 Biomarker disease HPO
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.100 Biomarker disease HPO
Entrez Id: 2077
Gene Symbol: ERF
ERF 		0.100 Biomarker disease HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 Biomarker disease HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2 		0.100 Biomarker disease HPO
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		0.100 Biomarker disease HPO