ADAM17, ADAM metallopeptidase domain 17, 6868

N. diseases: 316; N. variants: 11
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.
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 2 2 0.300 moderate 0
Immunodeficiency without anhidrotic ectodermal dysplasia
disease Immune System Diseases Disease or Syndrome 2 2 0.300 moderate 0
CUI: C0030578
Disease: Paronychia Inflammation
Paronychia Inflammation
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0029878
Disease: Otitis Externa
Otitis Externa
disease Otorhinolaryngologic Diseases Disease or Syndrome 3 0.100 None 0
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy
phenotype Finding 19 0.100 None 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.100 None 0
CUI: C0018932
Disease: Hematochezia
Hematochezia
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
CUI: C0241157
Disease: pustule
pustule
phenotype Skin and Connective Tissue Diseases Finding 18 0.100 None 0
CUI: C0005741
Disease: Blepharitis
Blepharitis
disease Eye Diseases Disease or Syndrome 55 3 0.100 None 0
Neonatal inflammatory skin and bowel disease
disease Digestive System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2011 2011
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0005758
Disease: Bulla
Bulla
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 3 0.300 None 1.000 1 2009 2009
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.300 moderate 1.000 1 2010 2010
Experimental Autoimmune Encephalomyelitis
disease Immune System Diseases; Nervous System Diseases Experimental Model of Disease 97 0.200 None 1.000 1 2005 2005
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal
disease Infections; Nervous System Diseases Disease or Syndrome 88 13 0.200 None 1.000 1 2014 2014
CUI: C1527348
Disease: Brain Hypoxia
Brain Hypoxia
phenotype Nervous System Diseases Pathologic Function 12 0.200 None 1.000 1 2012 2012
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 67 0.200 None 1.000 1 2013 2013
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2018 2018
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 2 2019 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None 1.000 1 1 2018 2018