CAT, catalase, 847

N. diseases: 794; N. variants: 14
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: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C4022869
Disease: Reduced catalase activity
Reduced catalase activity 		phenotype Finding 1 0.100 None 0
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 43 16 0.020 None < 0.001 2 2014 2017
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 33 15 0.010 None < 0.001 1 1992 1992
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		group Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 84 25 0.010 None < 0.001 1 2018 2018
CUI: C0003165
Disease: Anthracosis
Anthracosis 		disease Respiratory Tract Diseases Disease or Syndrome 65 37 0.010 None < 0.001 1 2003 2003
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None < 0.001 1 2011 2011
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 129 16 0.010 None < 0.001 1 1 2018 2018
CUI: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus 		disease Disease or Syndrome 21 11 0.010 None < 0.001 1 2010 2010
CUI: C0023886
Disease: Liver Abscess, Amebic
Liver Abscess, Amebic 		disease Digestive System Diseases; Infections Disease or Syndrome 30 1 0.010 None < 0.001 1 2017 2017
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 196 76 0.010 None < 0.001 1 2018 2018
CUI: C0032027
Disease: Pityriasis Rubra Pilaris
Pityriasis Rubra Pilaris 		disease Skin and Connective Tissue Diseases Disease or Syndrome 32 2 0.010 None < 0.001 1 2017 2017
CUI: C0021670
Disease: insulinoma
insulinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 258 8 0.010 None < 0.001 1 1996 1996
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 41 38 0.020 None 0.500 2 1999 2004
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.020 None 0.500 2 2012 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.020 None 0.500 2 2017 2018
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.020 None 0.500 2 1986 1989
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 0.500 2 2012 2019
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.030 None 0.667 3 1 2012 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.030 None 0.667 3 1 2012 2015
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 418 117 0.030 None 0.667 3 2014 2020
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.030 None 0.667 3 2015 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.030 None 0.667 3 1990 2005
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.040 None 0.750 4 2001 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.040 None 0.750 4 1990 2015