MMP1, matrix metallopeptidase 1, 4312

N. diseases: 589; N. variants: 19
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: C0155563
Disease: Rheumatic mitral regurgitation
Rheumatic mitral regurgitation 		disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0263583
Disease: Idiopathic guttate hypomelanosis
Idiopathic guttate hypomelanosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0333099
Disease: Fusiform Aneurysm
Fusiform Aneurysm 		disease Cardiovascular Diseases Anatomical Abnormality 2 0.300 None 1.000 1 2011 2011
CUI: C0340708
Disease: Deep vein thrombosis of lower limb
Deep vein thrombosis of lower limb 		disease Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 3 0.300 None 0
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome 		disease Digestive System Diseases; Respiratory Tract Diseases; Wounds and Injuries Disease or Syndrome 2 0.100 None 0
CUI: C0334163
Disease: Fibrous bands
Fibrous bands 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 3 0.010 None 1.000 1 1997 1997
CUI: C0349516
Disease: Isolated aortic stenosis
Isolated aortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2005 2005
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 2009 2009
CUI: C1333843
Disease: Grade 3 Invasive Breast Carcinoma
Grade 3 Invasive Breast Carcinoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2008 2008
CUI: C4728147
Disease: Mid-dermal elastolysis
Mid-dermal elastolysis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C2673611
Disease: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.300 None 0
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 4 0.300 None 0
CUI: C0154051
Disease: Hemangioma of retina
Hemangioma of retina 		disease Neoplasms; Eye Diseases; Cardiovascular Diseases Neoplastic Process 4 0.010 None 1.000 1 2009 2009
CUI: C0271321
Disease: Madarosis of eyelid
Madarosis of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes 		phenotype Finding 4 0.100 None 0
CUI: C0238239
Disease: Light chain disease
Light chain disease 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2005 2005
CUI: C2713497
Disease: Saccular Aneurysm
Saccular Aneurysm 		disease Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 2011 2011
CUI: C0016033
Disease: Nonproliferative fibrocystic disease
Nonproliferative fibrocystic disease 		disease Disease or Syndrome 6 0.010 None 1.000 1 1999 1999
CUI: C0017614
Disease: Glaucoma, Suspect
Glaucoma, Suspect 		disease Eye Diseases Disease or Syndrome 6 0.300 None 1.000 1 2010 2010
CUI: C0339229
Disease: Superior limbic keratoconjunctivitis
Superior limbic keratoconjunctivitis 		disease Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2011 2011
CUI: C0341299
Disease: Collagenous Sprue
Collagenous Sprue 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C1148477
Disease: Deafness, Sudden
Deafness, Sudden 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 6 2 0.010 None 1.000 1 2011 2011
CUI: C0011620
Disease: Stasis dermatitis
Stasis dermatitis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2001 2001
CUI: C0017567
Disease: Gingival Hypertrophy
Gingival Hypertrophy 		disease Stomatognathic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006