Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040861
rs886040861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C0543888
Disease:
Epileptic encephalopathy 		0.010 GeneticVariation BEFREE Here, we report a de novo recurrent heterozygous missense mutation-c.1999G>A (p.Val667Ile)-in a NMDAR gene previously unrecognized to harbor disease-causing mutations, GRIN2D, identified by exome and candidate panel sequencing in two unrelated children with epileptic encephalopathy. 27616483 2016
dbSNP: rs62132014
rs62132014
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs10419023
rs10419023
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C0014175
Disease:
Endometriosis 		T 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265 2017
dbSNP: rs1259830926
rs1259830926
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT
dbSNP: rs1569064110
rs1569064110
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569065861
rs1569065861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1569065866
rs1569065866
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886040861
rs886040861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.800 GeneticVariation UNIPROT GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. 27616483 2016
dbSNP: rs886040861
rs886040861
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
CUI: C4310687
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		A 0.800 CausalMutation CLINVAR