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: C0333307
Disease: Superficial ulcer
Superficial ulcer
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.030 None 1.000 3 1997 2017
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.020 None 1.000 2 2018 2018
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33 0.020 None 1.000 2 2015 2016
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2018 2018
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2014 2014
CUI: C0035450
Disease: Rheumatoid Nodule
Rheumatoid Nodule
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3 0.010 None 1.000 1 2013 2013
Amputated structure (morphologic abnormality)
phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2020 2020
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2017 2017
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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.020 None 0.500 2 2017 2019
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 93 8 0.010 None 1.000 1 2010 2010
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2006 2006
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 1 2013 2013
CUI: C0032584
Disease: polyps
polyps
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18 0.010 None 1.000 1 2017 2017
CUI: C0333099
Disease: Fusiform Aneurysm
Fusiform Aneurysm
disease Cardiovascular Diseases Anatomical Abnormality 2 0.300 None 1.000 1 2011 2011
CUI: C1510420
Disease: Cavitation
Cavitation
disease Anatomical Abnormality 47 0.010 None 1.000 1 2018 2018
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2008 2008
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2010 2010
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.100 None 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 16 1 0.100 None 0
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2011 2011
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.010 None 1.000 1 2010 2010
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.010 None < 0.001 1 2019 2019
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.010 None 1.000 1 2009 2009