SNAP29, synaptosome associated protein 29, 9342

N. diseases: 70; N. variants: 4
Disease: Neurocutaneous Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		0.010 GeneticVariation disease BEFREE A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. 15968592 2005
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes 		0.010 GeneticVariation disease LHGDN A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. 15968592 2005