Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.020 GeneticVariation disease BEFREE TUBB3 E410K syndrome may be diagnosed as atypical Moebius syndrome because of overlapping clinical symptoms. 29289389 2018
Entrez Id: 4762
Gene Symbol: NEUROG1
NEUROG1 		0.010 GeneticVariation disease BEFREE A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. 23419067 2013
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1 		0.030 GeneticVariation disease BEFREE A clinical misdiagnosis is unlikely in the absence of facial weakness (typical of Moebius syndrome), deafness (typical of the HOXA1 spectrum), or mental retardation (typical of other central decussation abnormalities). 21510772 2011
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.010 GeneticVariation disease BEFREE A large Sardinian family including 13 Martin-Bell syndrome (MBS) patients, several instances of normal transmitting males or females, and the G6PD-Mediterranean mutant segregating in some of its branches, has been thoroughly investigated with the hope of gaining further insight on the nature of the FRAX-mutation. 1746598 1991
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		0.200 Biomarker disease MGD A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton. 24764192 2014
Entrez Id: 5980
Gene Symbol: REV3L
REV3L 		0.330 GeneticVariation disease BEFREE Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. 31033088 2019
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A 		0.010 Biomarker disease BEFREE Among 12 truncated protein-coding genes, SEMA3A is known to bind to the MBS-associated PLXND1. 31033088 2019
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 Biomarker disease BEFREE Among 12 truncated protein-coding genes, SEMA3A is known to bind to the MBS-associated PLXND1. 31033088 2019
Entrez Id: 2158
Gene Symbol: F9
F9 		0.010 Biomarker disease BEFREE By contrast, no significant differences were found in the recombination between 52A and factor IX in the two groups of MBS families or in these families versus those with Hunter syndrome examined in our laboratory. 3674751 1987
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 GeneticVariation disease BEFREE De novo mutations in PLXND1 and REV3L cause Möbius syndrome. 26068067 2015
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		0.200 Biomarker disease MGD ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. 25779931 2015
Entrez Id: 246329
Gene Symbol: STAC3
STAC3 		0.010 GeneticVariation disease BEFREE Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. 28777491 2017
Entrez Id: 8403
Gene Symbol: SOX14
SOX14 		0.020 GeneticVariation disease BEFREE Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and Mobius syndrome. 10798354 2000
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		0.010 GeneticVariation disease BEFREE Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and Mobius syndrome. 10798354 2000
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 Biomarker disease GENOMICS_ENGLAND Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene. 24254849 2013
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.200 Biomarker disease MGD Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381 2013
Entrez Id: 1045
Gene Symbol: CDX2
CDX2 		0.010 Biomarker disease BEFREE Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. 19460469 2009
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 GeneticVariation disease BEFREE Mutations in Plexin D1 have been implicated in pathologic conditions such as truncus arteriosus and Möbius syndrome. 31152824 2019
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1 		0.030 GeneticVariation disease BEFREE Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population. 20227628 2010
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1 		0.030 GeneticVariation disease BEFREE Participants underwent standardized ophthalmologic examination for Moebius syndrome minimum diagnostic criteria (MDC) (congenital, nonprogressive facial palsy, and abduction deficit) and genetic testing for HOXA1, HOXB1, and TUBB3 mutations. 24612975 2014
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1 		0.020 GeneticVariation disease BEFREE Participants underwent standardized ophthalmologic examination for Moebius syndrome minimum diagnostic criteria (MDC) (congenital, nonprogressive facial palsy, and abduction deficit) and genetic testing for HOXA1, HOXB1, and TUBB3 mutations. 24612975 2014
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.020 GeneticVariation disease BEFREE Participants underwent standardized ophthalmologic examination for Moebius syndrome minimum diagnostic criteria (MDC) (congenital, nonprogressive facial palsy, and abduction deficit) and genetic testing for HOXA1, HOXB1, and TUBB3 mutations. 24612975 2014
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.200 Biomarker disease MGD Production of fertile offspring from genetically infertile male mice. 14757819 2004
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 GeneticVariation disease LHGDN Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients. 15301830 2004