G2Cdb::Human Disease report

Disease id
D00000161
Name
Williams syndrome
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001922 STX1A
syntaxin 1A (brain)
Y (9311751) Deletion (D) Y

References

  • Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

    Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW and Tsui LC

    American journal of human genetics 1997;61;2;449-52

Literature (1)

Pubmed - other

  • Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

    Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW and Tsui LC

    American journal of human genetics 1997;61;2;449-52

© 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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