CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
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: C0085661
Disease: Onycholysis
Onycholysis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 0.100 None 0
CUI: C0221237
Disease: Angular cheilitis
Angular cheilitis 		disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.100 None 0
CUI: C0240182
Disease: Leukonychia
Leukonychia 		phenotype Skin and Connective Tissue Diseases Finding 9 0.100 None 0
CUI: C0027540
Disease: Necrosis
Necrosis 		phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 60 0.300 None 1.000 1 2007 2007
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 282 21 0.300 None 1.000 1 2006 2006
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.200 None 1.000 1 2006 2006
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 1999 1999
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2000 2000
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.200 None 1.000 1 2005 2005
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.200 None 1.000 1 2010 2010
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.200 None 1.000 1 2006 2006
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 226 0.200 None 1.000 1 2002 2002
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		phenotype Finding 88 252 0.100 None 1.000 1 2 2012 2012
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2017 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.100 None 1.000 1 6 2010 2010
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 1 2 2012 2012
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		phenotype Laboratory Procedure 41 77 0.100 None 1.000 1 1 2017 2017
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.100 None 1.000 1 1 2017 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2019 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.010 None 1.000 1 2013 2013
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 4 0.010 None 1.000 1 2015 2015