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.
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
disease Disease or Syndrome 4 37 0.600 moderate 1.000 9 11 1993 2016
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.500 strong 1.000 2 1998 2015
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
disease Disease or Syndrome 5 81 0.400 None 1.000 4 3 1998 2018
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.400 limited 0 2
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 4 0.310 strong 1.000 2 1998 1998
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 1.000 2 2005 2012
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
disease Disease or Syndrome 4 1 0.300 strong 1.000 2 2017 2018
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
Autoimmune Lymphoproliferative Syndrome Type 2B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 2 0.300 strong 1.000 1 1998 1998
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.300 None 1.000 1 2016 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.300 strong 1.000 1 1998 1998
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss
phenotype Female Urogenital Diseases and Pregnancy Complications Finding 109 0.300 None 1.000 1 2008 2008
CUI: C4552766
Disease: Miscarriage
Miscarriage
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.300 None 1.000 1 2008 2008
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: C4225429
Disease: Ehlers-Danlos syndrome classic type
Ehlers-Danlos syndrome classic type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.300 strong 1.000 1 1998 1998
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.100 None 1.000 12 1 1996 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 1 1 2016 2016
CUI: C0432363
Disease: Shagreen patch
Shagreen patch
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Congenital Abnormality 8 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.100 None 0 1
CUI: C0575484
Disease: Long thorax
Long thorax
phenotype Finding 9 0.100 None 0