COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; 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: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.010 None 1.000 1 2012 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.300 None 1.000 1 2016 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2001 2001
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2013 2013
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 18 6 0.010 None 1.000 1 2017 2017
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.300 None 1.000 1 2008 2008
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.300 strong 1.000 1 1998 1998
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 None 1.000 1 2008 2008
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		disease Disease or Syndrome 5 0.100 None 0
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 34 16 0.100 None 0
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 113 25 0.100 None 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype Finding 25 2 0.100 None 0
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
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: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0