G2Cdb::Human Disease report

Disease id
D00000144
Name
Pseudohypoparathyroidism type 1a
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001473 GNAS
GNAS complex locus
Y (8557265) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (8809352) Single nucleotide polymorphism (SNP) Y
G00001473 GNAS
GNAS complex locus
Y (10094437) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (11095461) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (11788646) Microinsertion (MI) Y
G00001473 GNAS
GNAS complex locus
Y (11788646) Unknown (?) Y
G00001473 GNAS
GNAS complex locus
Y (11926205) Microinsertion (MI) Y
G00001473 GNAS
GNAS complex locus
Y (11926205) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (11926205) Insertion (I) Y

References

Literature (6)

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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