Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5652
Gene Symbol: PRSS8
PRSS8 		0.300 Therapeutic disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
Entrez Id: 10653
Gene Symbol: SPINT2
SPINT2 		0.300 Biomarker disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.350 GeneticVariation disease BEFREE In mice, homozygosity for mutations in the Vangl1 and Vangl2 genes or combined heterozygosity for Vangl1/Vangl2 mutations causes the very severe neural tube defect (NTD) craniorachischisis. 25068569 2014
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		0.310 GeneticVariation disease BEFREE In mice, homozygosity for mutations in the Vangl1 and Vangl2 genes or combined heterozygosity for Vangl1/Vangl2 mutations causes the very severe neural tube defect (NTD) craniorachischisis. 25068569 2014
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.350 GeneticVariation disease BEFREE Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida. 26368655 2015
Entrez Id: 5754
Gene Symbol: PTK7
PTK7 		0.010 Biomarker disease BEFREE Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida. 26368655 2015