Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 GeneticVariation disease BEFREE De novo mutations in PLXND1 and REV3L cause Möbius syndrome. 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
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.540 Biomarker disease BEFREE Taken together, these results lead to the exclusion of the PLEXIN-D1 gene as the causative gene in Möbius syndrome 2, and in isolated Möbius syndrome. 15301830 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
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: 5980
Gene Symbol: REV3L
REV3L 		0.330 Biomarker disease BEFREE The analysis also provided a number of candidate genes possibly causing the developmental defects observed in PS patients, among others REV3L, a gene coding for an error-prone DNA polymerase previously associated with Möbius Syndrome with variable phenotypes including pectoralis muscle agenesis. 27884122 2016
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: 5980
Gene Symbol: REV3L
REV3L 		0.330 GeneticVariation disease BEFREE 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: 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: 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: 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: 128637
Gene Symbol: TBC1D20
TBC1D20 		0.200 Biomarker disease MGD Production of fertile offspring from genetically infertile male mice. 14757819 2004
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 GeneticVariation disease CLINVAR
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: 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: 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: 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: 3211
Gene Symbol: HOXB1
HOXB1 		0.020 GeneticVariation disease BEFREE We screened 95 sporadic patients diagnosed as MBS or HCFP for mutations in HOXB1. 26007620 2016
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: 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: 8403
Gene Symbol: SOX14
SOX14 		0.020 Biomarker disease BEFREE This location places SOX14 within a chromosome interval associated with two distinct syndromes that affect craniofacial development: Blepharophimosis-ptosis-epicantus inversus syndrome and Möbius syndrome. 9925951 1998