CHIT1, chitinase 1, 1118

N. diseases: 142; N. variants: 8
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: C0017205
Disease: Gaucher Disease
Gaucher Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 143 82 0.400 None 1.000 27 3 1999 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.050 None 1.000 5 1999 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.050 None 1.000 5 1999 2017
CUI: C0043208
Disease: Wolman Disease
Wolman Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 35 0.020 None 1.000 2 1999 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.020 None 1.000 2 1999 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 1999 1999
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.010 None 1.000 1 1999 1999
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.010 None 1.000 1 1999 1999
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.340 None 1.000 4 2 2001 2017
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 91 28 0.010 None 1.000 1 2001 2001
CUI: C2047520
Disease: Mixed hyperlipidemia (disorder)
Mixed hyperlipidemia (disorder)
disease Nutritional and Metabolic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2001 2001
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.020 None 1.000 2 2003 2007
CUI: C0016085
Disease: Filariasis
Filariasis
disease Infections Disease or Syndrome 32 0.020 None < 0.001 2 2003 2007
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion
disease Cardiovascular Diseases Disease or Syndrome 253 0.020 None 1.000 2 2003 2007
CUI: C0021832
Disease: Intestinal Diseases, Parasitic
Intestinal Diseases, Parasitic
group Digestive System Diseases; Infections Disease or Syndrome 19 0.010 None 1.000 1 2003 2003
CUI: C0949091
Disease: Candida sepsis
Candida sepsis
disease Infections Disease or Syndrome 3 1 0.010 None 1.000 1 2003 2003
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum
disease Infections Disease or Syndrome 158 19 0.010 None 1.000 1 2003 2003
CUI: C0030499
Disease: Parasitic Diseases
Parasitic Diseases
group Infections Disease or Syndrome 164 2 0.010 None 1.000 1 2003 2003
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele
disease Male Urogenital Diseases Congenital Abnormality 21 5 0.010 None < 0.001 1 2003 2003
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 135 19 0.010 None 1.000 1 2003 2003
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.060 None 1.000 6 2005 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.020 None 1.000 2 2005 2010
CUI: C3714514
Disease: Infection
Infection
group Infections Pathologic Function 491 0.010 None 1.000 1 2005 2005
CUI: C3826128
Disease: Infection in children
Infection in children
disease Disease or Syndrome 29 5 0.010 None 1.000 1 2005 2005
CUI: C0085423
Disease: Gram-Negative Bacterial Infections
Gram-Negative Bacterial Infections
group Infections Disease or Syndrome 24 3 0.010 None 1.000 1 2005 2005