Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		0.010 Biomarker disease BEFREE We highlight the value of expert radiological opinion and molecular testing in establishing correct diagnoses and discuss phenotypic features of our patients, including the first description of subcutaneous ossification and spina bifida occulta in PRKAR1A-related acrodysostosis, in the context of the novel inactivating PTH/PTH related peptide signaling disorder classification system. 31041856 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.010 Biomarker disease BEFREE Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. 21651513 2012
Entrez Id: 5981
Gene Symbol: RFC1
RFC1 		0.010 GeneticVariation disease BEFREE The RFC-1 80G > A variant elevated the risk of SBO and anencephalic pregnancy. 14616766 2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.010 GeneticVariation disease BEFREE In addition, the MTHFR 677C > T variant conferred a modest protective effect in SBO mothers and the total NTD mother group, but not in SBA mothers. 14616766 2003
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1 		0.010 GeneticVariation disease BEFREE The RFC-1 80G > A variant elevated the risk of SBO and anencephalic pregnancy. 14616766 2003
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.100 CausalMutation disease CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		0.100 Biomarker disease HPO
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1 		0.100 Biomarker disease HPO
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2 		0.100 Biomarker disease HPO
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		0.100 Biomarker disease HPO
Entrez Id: 91754
Gene Symbol: NEK9
NEK9 		0.100 Biomarker disease HPO
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1 		0.100 Biomarker disease HPO
Entrez Id: 5977
Gene Symbol: DPF2
DPF2 		0.100 Biomarker disease HPO
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		0.100 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		0.100 Biomarker disease HPO
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		0.100 Biomarker disease HPO
Entrez Id: 84667
Gene Symbol: HES7
HES7 		0.100 Biomarker disease HPO
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2 		0.100 Biomarker disease HPO
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		0.100 Biomarker disease HPO
Entrez Id: 6862
Gene Symbol: TBXT
TBXT 		0.100 Biomarker disease HPO
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		0.100 Biomarker disease HPO
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1 		0.100 Biomarker disease HPO
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.100 Biomarker disease HPO
Entrez Id: 78989
Gene Symbol: COLEC11
COLEC11 		0.100 Biomarker disease HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		0.100 Biomarker disease HPO