rs375817528, CAPN1

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Upper motor neuron dysfunction
CUI: C1839042
Disease: Upper motor neuron dysfunction
0.700 GeneticVariation CLINVAR
Paresthesia
CUI: C0030554
Disease: Paresthesia
0.700 GeneticVariation CLINVAR
Limb dysmetria
CUI: C1854489
Disease: Limb dysmetria
0.700 GeneticVariation CLINVAR
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
0.700 GeneticVariation CLINVAR
Spondylolisthesis at L5-S1
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
0.700 GeneticVariation CLINVAR
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
0.700 GeneticVariation CLINVAR
Headache
CUI: C0018681
Disease: Headache
0.700 GeneticVariation CLINVAR
Dysarthria
CUI: C0013362
Disease: Dysarthria
0.700 GeneticVariation CLINVAR
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
0.700 GeneticVariation CLINVAR
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
0.700 GeneticVariation CLINVAR
Weakness due to upper motor neuron dysfunction
0.700 GeneticVariation CLINVAR
Distal lower limb amyotrophy
CUI: C1836451
Disease: Distal lower limb amyotrophy
0.700 GeneticVariation CLINVAR
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR
Impaired distal vibration sensation
CUI: C1853767
Disease: Impaired distal vibration sensation
0.700 GeneticVariation CLINVAR
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
0.700 GeneticVariation CLINVAR
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
0.700 GeneticVariation CLINVAR
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
0.700 GeneticVariation CLINVAR
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
0.700 GeneticVariation CLINVAR
Gait, Drop Foot
CUI: C0427149
Disease: Gait, Drop Foot
0.700 GeneticVariation CLINVAR
Spinal stenosis of lumbar region
CUI: C0158288
Disease: Spinal stenosis of lumbar region
0.700 GeneticVariation CLINVAR
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
0.700 GeneticVariation CLINVAR
Cervical spondylosis
CUI: C1384641
Disease: Cervical spondylosis
0.700 GeneticVariation CLINVAR