G2Cdb::Human Disease report

Disease id
D00000193
Name
Alzheimer's disease
Nervous system disease
yes

Genes (4)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002371 CALM1
calmodulin 1 (phosphorylase kinase, delta)
Y (9237482) Single nucleotide polymorphism (SNP) N
G00002098 GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
Y (15030408) Splice variant (SpVar) Y
G00001394 MAPK8IP1
mitogen-activated protein kinase 8 interacting protein 1
Y (12740599) Single nucleotide polymorphism (SNP) Y
G00000030 NOS1
nitric oxide synthase 1 (neuronal)
Y (12210288) Dinucleotide polymorphism (DNP) N

References

Literature (4)

Pubmed - human_disease

Component References failed to execute

Pubmed - other

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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