G2Cdb::Human Disease report

Disease id
D00000184
Name
Huntington's disease
Nervous system disease
yes

Genes (3)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00000026 GRIN2A
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Y (17018562) Single nucleotide polymorphism (SNP) Y
G00000026 GRIN2A
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Y (15742215) Polymorphism (P) Y
G00000027 GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Y (15742215) Polymorphism (P) Y
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (9108071) Repeat polymorphism (RP) Y
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (10522893) Repeat polymorphism (RP) Y
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (12821179) Repeat polymorphism (RP) Y
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (14755452) Repeat polymorphism (RP) Y
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (16959037) Single nucleotide polymorphism (SNP) N
G00001312 GRIK2
glutamate receptor, ionotropic, kainate 2
Y (17018562) Repeat polymorphism (RP) N

References

Literature (7)

Pubmed - human_disease

Pubmed - other

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

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