TIMP2, TIMP metallopeptidase inhibitor 2, 7077

N. diseases: 404; N. variants: 20
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: C0016427
Disease: Follicular cyst
Follicular cyst 		disease Neoplasms Acquired Abnormality 4 0.010 None 1.000 1 2017 2017
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2015 2015
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 185 3 0.010 None 1.000 1 2010 2010
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2020 2020
CUI: C0410619
Disease: Prolapsed cervical intervertebral disc
Prolapsed cervical intervertebral disc 		phenotype Acquired Abnormality 2 0.010 None 1.000 1 2016 2016
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 5 2019 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: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.010 None 1.000 1 2005 2005
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None 1.000 1 2012 2012
CUI: C0043020
Disease: Wallerian Degeneration
Wallerian Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 21 0.200 None 1.000 1 2006 2006
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.030 None 1.000 3 1 2012 2014
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.020 None 1.000 2 2019 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.010 None 1.000 1 1 2012 2012
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 267 80 0.010 None 1.000 1 2019 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.010 None 1.000 1 2016 2016
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 1997 1997
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2011 2011
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.010 None 1.000 1 1 2012 2012
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 190 75 0.010 None 1.000 1 1 2012 2012
CUI: C3665629
Disease: Dental fluorosis
Dental fluorosis 		disease Congenital Abnormality 24 3 0.010 None 1.000 1 2017 2017
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.010 None 1.000 1 2016 2016
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 826 32 0.100 None 1.000 44 2014 2019
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.080 None 1.000 8 1998 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.060 None 0.833 6 1999 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.060 None 1.000 6 1996 2017