G2Cdb::Human Disease report

Disease id
D00000249
Name
Striate keratoderma
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001856 DSG1
desmoglein 1
Y (12930313) Nonsense (No) Y

References

Literature (1)

Pubmed - human_disease

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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