MMP9, matrix metallopeptidase 9, 4318

N. diseases: 1337; N. variants: 31
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: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C1096086
Disease: Deformity of lower limb
Deformity of lower limb
disease Anatomical Abnormality 11 5 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity
phenotype Finding 34 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening
phenotype Finding 43 3 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype Congenital Abnormality 63 5 0.100 None 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype Finding 45 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4025424
Disease: Abnormality of ulnar metaphysis
Abnormality of ulnar metaphysis
disease Anatomical Abnormality 3 0.100 None 0
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis
disease Stomatognathic Diseases Disease or Syndrome 130 49 0.010 None < 0.001 1 2007 2007
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.010 None < 0.001 1 2017 2017
CUI: C0019079
Disease: Hemoptysis
Hemoptysis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.010 None < 0.001 1 2017 2017
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None < 0.001 1 2007 2007
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 79 14 0.010 None < 0.001 1 2009 2009
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.010 None < 0.001 1 2 2015 2015
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.010 None < 0.001 1 2002 2002
Exudative age-related macular degeneration
disease Eye Diseases Disease or Syndrome 158 109 0.010 None < 0.001 1 2014 2014
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.310 None < 0.001 1 2014 2014
CUI: C0543822
Disease: Atherosclerotic occlusive disease
Atherosclerotic occlusive disease
disease Cardiovascular Diseases Disease or Syndrome 13 0.010 None < 0.001 1 1998 1998
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 264 58 0.010 None < 0.001 1 2014 2014