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: C3279902
Disease: CHITOTRIOSIDASE DEFICIENCY
CHITOTRIOSIDASE DEFICIENCY 		disease Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C4285683
Disease: Severe asthma with fungal sensitisation
Severe asthma with fungal sensitisation 		disease Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0949091
Disease: Candida sepsis
Candida sepsis 		disease Infections Disease or Syndrome 3 1 0.010 None 1.000 1 2003 2003
CUI: C3805232
Disease: Post polycythaemia vera myelofibrosis
Post polycythaemia vera myelofibrosis 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 4 1 0.010 None 1.000 1 2018 2018
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2009 2009
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 34 0.300 None 1.000 1 2007 2007
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: C2350621
Disease: Eumycetoma
Eumycetoma 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.010 None 1.000 1 2015 2015
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 98 0.010 None 1.000 1 2006 2006
CUI: C4684865
Disease: Cerebral Adrenoleukodystrophy
Cerebral Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 9 0.020 None 1.000 2 2011 2019
CUI: C0024116
Disease: Lung Diseases, Fungal
Lung Diseases, Fungal 		group Infections; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 57 0.010 None 1.000 1 2005 2005
CUI: C2936797
Disease: Acid cholesteryl ester hydrolase deficiency, type 2
Acid cholesteryl ester hydrolase deficiency, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2019 2019
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 2009 2009
CUI: C0342853
Disease: Sialuria
Sialuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 17 0.010 None 1.000 1 2012 2012
CUI: C3532942
Disease: Mixed dementia
Mixed dementia 		disease Nervous System Diseases; Mental Disorders; Cardiovascular Diseases Mental or Behavioral Dysfunction 12 2 0.010 None 1.000 1 2017 2017
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 68 0.020 None 1.000 2 2018 2019
CUI: C0019911
Disease: Hookworm Infections
Hookworm Infections 		group Infections Disease or Syndrome 13 0.010 None < 0.001 1 2007 2007
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 31 0.010 None 1.000 1 2019 2019
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 26 0.300 None 1.000 1 2007 2007
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: 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: C0024449
Disease: Mycetoma
Mycetoma 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 10 0.010 None 1.000 1 2009 2009
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele 		disease Male Urogenital Diseases Congenital Abnormality 21 5 0.010 None < 0.001 1 2003 2003