CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
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: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 195 54 0.010 None 1.000 1 2010 2010
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.010 None 1.000 1 2010 2010
CUI: C0039730
Disease: Thalassemia
Thalassemia 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.010 None 1.000 1 2019 2019
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 360 38 0.010 None 1.000 1 2018 2018
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 186 43 0.010 None 1.000 1 2019 2019
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease Disease or Syndrome 58 9 0.010 None 1.000 1 2018 2018
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.010 None 1.000 1 2018 2018
CUI: C0854260
Disease: Congenital urinary tract obstruction
Congenital urinary tract obstruction 		disease Congenital Abnormality 2 0.010 None 1.000 1 2019 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 2019 2019
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None < 0.001 1 1 2013 2013
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2017 2017
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.010 None 1.000 1 2005 2005
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 2019 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2018 2018
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.010 None 1.000 1 2019 2019
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 27 118 0.010 None 1.000 1 2006 2006
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2018 2018
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 84 5 0.010 None 1.000 1 2003 2003
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		disease Nervous System Diseases Disease or Syndrome 48 17 0.010 None 1.000 1 2010 2010
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.010 None 1.000 1 2017 2017
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.010 None < 0.001 1 2017 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.010 None 1.000 1 2017 2017
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2019 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 1 2017 2017
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.010 None 1.000 1 2018 2018