Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 653
Gene Symbol: BMP5
BMP5 		0.310 Biomarker disease BEFREE The Gsc gene and the BMP5 maternal peptide gene may act as the predisposing genes of microtia. 19935299 2009
Entrez Id: 145258
Gene Symbol: GSC
GSC 		0.310 Biomarker disease GENOMICS_ENGLAND Nasal and pharyngeal abnormalities caused by the mouse goosecoid gene mutation. 9144415 1997
Entrez Id: 2121
Gene Symbol: EVC
EVC 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 653
Gene Symbol: BMP5
BMP5 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.300 Biomarker disease GENOMICS_ENGLAND A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. 22560091 2012
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA 		0.300 Biomarker disease GENOMICS_ENGLAND Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 20583178 2010
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		0.300 Biomarker disease GENOMICS_ENGLAND Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects. 16880404 2006
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		0.300 Biomarker disease GENOMICS_ENGLAND Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. 15838507 2005
Entrez Id: 57045
Gene Symbol: TWSG1
TWSG1 		0.300 Biomarker disease GENOMICS_ENGLAND Twisted gastrulation can function as a BMP antagonist. 11260717 2001
Entrez Id: 147912
Gene Symbol: SIX5
SIX5 		0.300 Biomarker disease GENOMICS_ENGLAND Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. 9949207 1999
Entrez Id: 2255
Gene Symbol: FGF10
FGF10 		0.300 Biomarker disease GENOMICS_ENGLAND Morphogenesis. 9988217 1999
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.300 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2 		0.300 Biomarker disease GENOMICS_ENGLAND Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. 9426254 1997
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		0.300 Biomarker disease GENOMICS_ENGLAND The human homeodomain protein OTX2 binds to the human tenascin-C promoter and trans-represses its activity in transfected cells. 9174161 1997
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.300 Biomarker disease GENOMICS_ENGLAND Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. 9247308 1997
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		0.300 Biomarker disease GENOMICS_ENGLAND Melorheostosis in a patient with familial osteopoikilosis. 9295073 1997
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		0.300 Biomarker disease GENOMICS_ENGLAND A mouse model for Fraser syndrome? 8055142 1994
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.300 Biomarker disease GENOMICS_ENGLAND The highly conserved Chinese hamster GNAI3 gene maps less than 60 kb from the AMPD2 gene and lacks the intronic U6 snRNA present in its human counterpart. 7698751 1994
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 11197
Gene Symbol: WIF1
WIF1 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 344167
Gene Symbol: FOXI3
FOXI3 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 392255
Gene Symbol: GDF6
GDF6 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2248
Gene Symbol: FGF3
FGF3 		0.110 GeneticVariation disease BEFREE Auditory investigations, computer tomography, and genetic sequencing of the fibroblast growth factor 3 (FGF3) gene were performed on a Somali family presenting with autosomal recessive, hearing impairment, microdontia, and outer ear morphologies ranging from normal auricle development to microtia assessed as type 1 Weerda dysplasia in affected individuals. 19950373 2010
Entrez Id: 2248
Gene Symbol: FGF3
FGF3 		0.110 Biomarker disease HPO
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015