G2Cdb::Human Disease report

Disease id
D00000134
Name
MYH9-related disease
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16818291) Microinsertion (MI) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16806139) Single nucleotide polymorphism (SNP) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16162639) Nonsense (No) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16098078) Microinsertion (MI) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (16077952) Polymorphism (P) N
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (15667538) Frameshift mutation (FS) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (15613099) Deletion (D) Y
G00002004 MYH9
myosin, heavy chain 9, non-muscle
Y (15339844) Polymorphism (P) Y

References

Literature (8)

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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