rs786200949, KIF1A

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
0.700 CausalMutation CLINVAR Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 25585697 2015
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
0.700 CausalMutation CLINVAR Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750 2015
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
0.700 CausalMutation CLINVAR Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
0.700 CausalMutation CLINVAR Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750 2015
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
0.700 CausalMutation CLINVAR Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 25585697 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
0.700 CausalMutation CLINVAR Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 25585697 2015
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
0.700 CausalMutation CLINVAR