KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Autonomic neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		0.020 GeneticVariation disease BEFREE Autosomal recessive <i>KIF1A</i> missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. 29159194 2017
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		0.020 GeneticVariation disease BEFREE Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. 25265257 2015