COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
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: 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 0.730 strong 1.000 7 1996 2010
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		disease Disease or Syndrome 5 81 0.600 None 1.000 11 38 1993 2018
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 0.530 strong 1.000 5 1995 1998
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.400 limited 0 1
CUI: C0220679
Disease: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
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
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.300 None 1.000 1 2010 2010
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: C0205699
Disease: Carcinomatosis
Carcinomatosis 		phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2002 2002
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2002 2002
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 2002 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2002 2002
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2018 2018
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 2015 2015
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2002 2002
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2002 2002
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: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 1 2002 2002
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
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 1997 1997
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.300 strong 1.000 1 2015 2015
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 2015 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2018 2018
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: 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: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.300 None 1.000 1 2002 2002