CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C1384641
Disease: Cervical spondylosis
Cervical spondylosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.100 None 0 1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0 1
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0 1
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		phenotype Pathologic Function 16 1 0.100 None 0 1
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0 1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 0
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0 1
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 0
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 48 11 0.100 None 0 1
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 0.100 None 0 1
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0 1
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		phenotype Finding 10 1 0.100 None 0 1
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
Spondylolisthesis at L5-S1 		phenotype Musculoskeletal Diseases Finding 2 3 0.100 None 0 1
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0 1
CUI: C3806583
Disease: Functional abnormality of the bladder
Functional abnormality of the bladder 		phenotype Finding 3 0.100 None 0
CUI: C4021255
Disease: Weakness due to upper motor neuron dysfunction
Weakness due to upper motor neuron dysfunction 		phenotype Pathologic Function 1 1 0.100 None 0 1