G2Cdb::Human Disease report

Disease id
D00000138
Name
Multiple endocrine neoplasia type I
Nervous system disease
no

Genes (2)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001604 PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
Y (9003510) Microinsertion (MI) N
G00001604 PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
Y (9003510) Polymorphism (P) N
G00001604 PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
Y (9003511) Single nucleotide polymorphism (SNP) N
G00000031 HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
Y (2565762) Deletion (D) Y

References

Literature (3)

Pubmed - human_disease

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

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