CMA1, chymase 1, 1215

N. diseases: 157; N. variants: 2
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: C0741183
Disease: aortic stenosis symptomatic
aortic stenosis symptomatic 		disease Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C1864904
Disease: Exercise-induced hyperinsulinism
Exercise-induced hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 0.020 None 1.000 2 2013 2013
CUI: C1276072
Disease: Adult atopic dermatitis
Adult atopic dermatitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 5 4 0.010 None < 0.001 1 2004 2004
CUI: C0376300
Disease: Dengue Shock Syndrome
Dengue Shock Syndrome 		disease Infections Disease or Syndrome 18 9 0.010 None 1.000 1 1 2015 2015
CUI: C0018188
Disease: Granuloma
Granuloma 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function 24 0.200 None 1.000 1 2005 2005
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2016 2016
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 46 5 0.010 None 1.000 1 2004 2004
CUI: C1135191
Disease: Heart Failure, Systolic
Heart Failure, Systolic 		disease Cardiovascular Diseases Disease or Syndrome 49 6 0.010 None 1.000 1 2008 2008
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 12 0.010 None 1.000 1 2006 2006
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.010 None 1.000 1 2019 2019
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 62 27 0.010 None 1.000 1 2011 2011
CUI: C0036205
Disease: Sarcoidosis, Pulmonary
Sarcoidosis, Pulmonary 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 1 0.010 None 1.000 1 2006 2006
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 1 2004 2004
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease Nervous System Diseases Disease or Syndrome 93 36 0.010 None 1.000 1 2014 2014
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2019 2019
CUI: C4725671
Disease: High-Risk Neuroblastoma
High-Risk Neuroblastoma 		disease Neoplasms Neoplastic Process 99 4 0.010 None 1.000 1 2006 2006
CUI: C0011875
Disease: Diabetic Angiopathies
Diabetic Angiopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 106 7 0.010 None 1.000 1 2006 2006
CUI: C0019100
Disease: Severe Dengue
Severe Dengue 		disease Infections Disease or Syndrome 117 25 0.010 None < 0.001 1 1 2015 2015
CUI: C0022638
Disease: Ketosis
Ketosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 119 11 0.020 None 1.000 2 2014 2019
CUI: C4554344
Disease: IgE-mediated food allergy
IgE-mediated food allergy 		disease Immune System Diseases Disease or Syndrome 126 16 0.010 None 1.000 1 2019 2019
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		disease Immune System Diseases Disease or Syndrome 133 46 0.020 None 1.000 2 2005 2010
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		disease Digestive System Diseases Disease or Syndrome 150 25 0.010 None 1.000 1 2006 2006
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 153 6 0.010 None 1.000 1 2019 2019
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.010 None < 0.001 1 1 2015 2015
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2019 2019