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.
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 5 0.710 None 1.000 3 5 2016 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.380 None 0.778 9 1999 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.320 None 1.000 3 2012 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.320 None 1.000 3 1999 2019
CUI: C0029134
Disease: Optic Neuritis
Optic Neuritis
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 79 4 0.300 None 1.000 1 2013 2013
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group Neoplasms Neoplastic Process 371 7 0.300 None 1.000 1 2008 2008
CUI: C0524679
Disease: Neuropapillitis
Neuropapillitis
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
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: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta
phenotype Cardiovascular Diseases Disease or Syndrome 37 1 0.200 None 1.000 1 2012 2012
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy
disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 1 2014 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.200 None 1.000 1 2015 2015
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2013 2013
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.110 None 1.000 1 1 2016 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 12 2001 2019
CUI: C0234233
Disease: Sore to touch
Sore to touch
phenotype Pathological Conditions, Signs and Symptoms; Mental Disorders Sign or Symptom 56 8 0.100 None 1.000 11 2009 2018
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
phenotype Finding 32 5 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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 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: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
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: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0 1
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region
disease Musculoskeletal Diseases Disease or Syndrome 34 2 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