G2Cdb::Human Disease report

Disease id
D00000220
Name
Hearing impairment (autosomal recessive nonsyndromic)
Nervous system disease
yes

Genes (2)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (17211611) No mutation found (N) N
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (17166180) No mutation found (N) N
G00002207 CTTN
cortactin
Y (17211611) No mutation found (N) N

References

Literature (2)

Pubmed - human_disease

© 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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