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