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: C4310800
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 5 0.710 None 1.000 3 5 2016 2019
CUI: C0524679
Disease: Neuropapillitis
Neuropapillitis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
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
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
Spondylolisthesis at L5-S1 		phenotype Musculoskeletal Diseases Finding 2 3 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: C1384641
Disease: Cervical spondylosis
Cervical spondylosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 1 0.100 None 0 1
CUI: C0270985
Disease: Alcohol myopathy
Alcohol myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 1989 1989
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		phenotype Finding 10 1 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: 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: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 6 0.100 None 0 1
CUI: C0085582
Disease: Retrobulbar Neuritis
Retrobulbar Neuritis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 18 0.300 None 1.000 1 2013 2013
CUI: C2720436
Disease: Fibrosis of pleura
Fibrosis of pleura 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 19 0.010 None 1.000 1 2018 2018
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: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.010 None 1.000 1 2016 2016
CUI: C0011876
Disease: Cataract due to diabetes mellitus
Cataract due to diabetes mellitus 		disease Eye Diseases Disease or Syndrome 22 0.010 None 1.000 1 2006 2006
CUI: C0264545
Disease: Thickening of pleura
Thickening of pleura 		disease Respiratory Tract Diseases Disease or Syndrome 25 0.010 None 1.000 1 2018 2018
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 28 3 0.010 None 1.000 1 2019 2019
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0 1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 30 0.010 None 1.000 1 1998 1998
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 30 59 0.010 None 1.000 1 2019 2019
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 0 1
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0 1