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: 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: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 67 10 0.010 None 1.000 1 2018 2018
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 137 52 0.010 None 1.000 1 2018 2018
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 35 111 0.010 None 1.000 1 2007 2007
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 0.010 None 1.000 1 2018 2018
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.010 None 1.000 1 2012 2012
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: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.010 None 1.000 1 2003 2003
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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2008 2008
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 163 7 0.010 None 1.000 1 2018 2018
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.010 None 1.000 1 2009 2009
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.010 None 1.000 1 2014 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2018 2018
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 133 82 0.010 None 1.000 1 2016 2016
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.010 None 1.000 1 2018 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.010 None 1.000 1 2019 2019
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.010 None 1.000 1 2010 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.010 None 1.000 1 2018 2018
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: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2019 2019
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 2011 2011
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 2019 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2006 2006
CUI: C0242647
Disease: Mucosa-Associated Lymphoid Tissue Lymphoma
Mucosa-Associated Lymphoid Tissue Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 264 13 0.010 None 1.000 1 2012 2012