rs1559527796, KIF1A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098 2011
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098 2011
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098 2011