Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
0.010 Biomarker disease BEFREE Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2). 10830911 2000
Entrez Id: 10409
Gene Symbol: BASP1
BASP1
0.010 Biomarker disease BEFREE The other is transcribed processed pseudogene TPPsig-BASP1, which is located on chromosome 13q flanking the putative locus for Möbius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. 19376485 2009
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: 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: 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: 2254
Gene Symbol: FGF9
FGF9
0.010 Biomarker disease BEFREE We ruled out microdeletions on the critical region as a common cause of Moebius syndrome and excluded FGF9, GSH1 and CDX2 genes. 19460469 2009
Entrez Id: 2253
Gene Symbol: FGF8
FGF8
0.010 Biomarker disease BEFREE We implicate FGF8 in the etiology of recessive HPE and potentially septo-optic dysplasia/Moebius syndrome for the first time to our knowledge. 21832120 2011
Entrez Id: 7880
Gene Symbol: MBS2
MBS2
0.010 GeneticVariation disease BEFREE Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2). 10830911 2000
Entrez Id: 55605
Gene Symbol: KIF21A
KIF21A
0.010 GeneticVariation disease BEFREE The reported KIF21A D352E mutation and associated phenotype further expand the clinical and mutational spectrum of CFEOM and Möbius syndrome. 24715754 2014
Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1
0.010 GeneticVariation disease BEFREE The overall evaluation of the in situ and genetic data reported suggest that the CDR locus 1) is located at the upper boundary of the FRAXA site; 2) is distal to DXS51 and proximal to DXS 389; and 3) segregates in a close linkage association with the loci DXS98 and DXS105 and, to a lesser extent, with the locus for MBS. 1708201 1991
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
0.100 GeneticVariation disease CLINVAR
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
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: 128637
Gene Symbol: TBC1D20
TBC1D20
0.200 Biomarker disease MGD Production of fertile offspring from genetically infertile male mice. 14757819 2004
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: 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: 23129
Gene Symbol: PLXND1
PLXND1
0.540 GermlineCausalMutation disease ORPHANET The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients. 26068067 2015
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
0.330 GermlineCausalMutation disease ORPHANET The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients. 26068067 2015
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