DLL3, delta like canonical Notch ligand 3, 10683

N. diseases: 134; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894674
rs104894674
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		0.800 GeneticVariation UNIPROT Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 10742114 2000
dbSNP: rs104894674
rs104894674
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs786200899
rs786200899
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		CGCGGT 0.700 CausalMutation CLINVAR A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. 14708096 2004
dbSNP: rs786200899
rs786200899
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		CGCGGT 0.700 CausalMutation CLINVAR Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 10742114 2000
dbSNP: rs104894675
rs104894675
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894676
rs104894676
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1447189148
rs1447189148
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs777791545
rs777791545
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		GCGCGCGGACCCGTGCGC 0.700 CausalMutation CLINVAR
dbSNP: rs786200899
rs786200899
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C4225213
Disease:
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 		CGCGGT 0.700 CausalMutation CLINVAR
dbSNP: rs786200900
rs786200900
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786200903
rs786200903
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0265343
Disease:
Jarcho-Levin syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs2304214
rs2304214
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0559260
Disease:
Congenital scoliosis 		0.010 GeneticVariation BEFREE Allele frequencies of 5 tagging SNPs (SNP1: rs1110627, SNP2: rs3212276, SNP3: rs2304223, SNP4: rs2304222, and SNP5: rs2304214) in CS cases and controls were comparable and there were no available inheritance models. 27472720 2016