Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 GeneticVariation UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979

2009
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 GeneticVariation UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324

2007
Entrez Id: 6862
Gene Symbol: TBXT
TBXT
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576

2019
Entrez Id: 56288
Gene Symbol: PARD3
PARD3
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation UNIPROT Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 27925688

2017
Entrez Id: 9620
Gene Symbol: CELSR1
CELSR1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531

2012
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380

2010
Entrez Id: 6862
Gene Symbol: TBXT
TBXT
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.400 GeneticVariation UNIPROT The human T locus and spina bifida risk. 15449172

2004
Entrez Id: 23513
Gene Symbol: SCRIB
SCRIB
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.300 GeneticVariation UNIPROT Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531

2012
Entrez Id: 51339
Gene Symbol: DACT1
DACT1
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.300 GeneticVariation UNIPROT Identification of novel rare mutations of DACT1 in human neural tube defects. 22610794

2012