G2Cdb::Human Disease report

Disease id
D00000293
Name
Albright hereditary osteodystrophy
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001473 GNAS
GNAS complex locus
Y (1505964) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (10487696) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (11412411) Single nucleotide polymorphism (SNP) Y
G00001473 GNAS
GNAS complex locus
Y (11600516) Microinsertion (MI) Y
G00001473 GNAS
GNAS complex locus
Y (11600516) Insertion (I) Y
G00001473 GNAS
GNAS complex locus
Y (11600516) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (11600516) Splice site mutation (SpS) Y
G00001473 GNAS
GNAS complex locus
Y (12407707) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (12621129) Single nucleotide insertion (SNI) Y
G00001473 GNAS
GNAS complex locus
Y (12621129) Deletion (D) Y
G00001473 GNAS
GNAS complex locus
Y (12621129) Single nucleotide polymorphism (SNP) Y
G00001473 GNAS
GNAS complex locus
Y (12621129) Single nucleotide deletion (SND) Y
G00001473 GNAS
GNAS complex locus
Y (12621129) Microinsertion (MI) Y
G00001473 GNAS
GNAS complex locus
Y (12621129) Nonsense (No) Y
G00001473 GNAS
GNAS complex locus
Y (12656668) Single nucleotide polymorphism (SNP) Y
G00001473 GNAS
GNAS complex locus
Y (16116826) Nonsense (No) Y

References

Literature (8)

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).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.