G2Cdb::Human Disease report

Disease id
D00000143
Name
Pseudohypoparathyroidism
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001473 GNAS
GNAS complex locus
Y (9876352) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (9876352) Microinsertion (MI) Y
G00001473 GNAS
GNAS complex locus
Y (9876352) Microinsertion (MI) Y
G00001473 GNAS
GNAS complex locus
Y (16116826) Nonsense (No) Y

References

Literature (2)

Pubmed - human_disease

Pubmed - other

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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