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: C4022869
Disease: Reduced catalase activity
Reduced catalase activity
phenotype Finding 1 0.100 None 0
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 1978 1978
CUI: C0022610
Disease: Kernicterus
Kernicterus
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 0.010 None 1.000 1 1981 1981
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.010 None 1.000 1 1981 1981
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 1981 1981
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 None 1.000 1 1981 1981
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 34 2 0.030 None 1.000 3 1980 1983
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic
disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.010 None 1.000 1 1983 1983
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy
disease Disease or Syndrome 9 7 0.010 None 1.000 1 1985 1985
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 0.010 None 1.000 1 1985 1985
CUI: C0038826
Disease: Superinfection
Superinfection
group Infections Disease or Syndrome 85 0.010 None 1.000 1 1985 1985
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 1987 1987
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.010 None 1.000 1 1987 1987
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases
group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.010 None 1.000 1 1987 1987
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None 1.000 1 1987 1987
CUI: C0033839
Disease: Pseudorabies
Pseudorabies
disease Infections; Nervous System Diseases; Animal Diseases Disease or Syndrome 49 0.010 None 1.000 1 1988 1988
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 1988 1988
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 1988 1988
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 132 81 0.010 None 1.000 1 1988 1988
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.090 None 1.000 9 1981 1989
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: C0206115
Disease: WAGR Syndrome
WAGR Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 13 11 0.020 None 1.000 2 1980 1989
CUI: C0524702
Disease: Pulmonary Thromboembolisms
Pulmonary Thromboembolisms
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 33 6 0.300 None 1.000 1 1989 1989
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism
disease Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function 93 16 0.300 None 1.000 1 1989 1989