CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs756205995
rs756205995 		1.000 11 65187995 missense variant G/A;C snv 6.5E-05
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2016 2016
dbSNP: rs34888828
rs34888828 		11 65200633 intron variant G/A snv 7.0E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0030554
Disease: Paresthesia
Paresthesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region 		Musculoskeletal Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C1384641
Disease: Cervical spondylosis
Cervical spondylosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C4021255
Disease: Weakness due to upper motor neuron dysfunction
Weakness due to upper motor neuron dysfunction 		0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
Spondylolisthesis at L5-S1 		Musculoskeletal Diseases 0.700 0
dbSNP: rs375817528
rs375817528 		0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0