COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 13 257 1.000 None 0.976 124 192 1988 2019
Osteogenesis imperfecta type III (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 18 67 0.990 None 1.000 28 31 1989 2018
Osteogenesis imperfecta type IV (disorder)
disease Disease or Syndrome; Congenital Abnormality 12 65 0.970 None 1.000 22 35 1989 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.900 None 0.984 185 49 1985 2020
Osteogenesis imperfecta, dominant perinatal lethal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 8 93 0.890 None 1.000 43 62 1986 2019
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 10 0.770 None 1.000 9 9 1993 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.700 None 1.000 27 1 1996 2017
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 0.600 strong 1.000 19 7 1991 2020
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 16 0.600 None 1.000 4 11 1991 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.500 None 1.000 7 2005 2016
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
disease Disease or Syndrome 5 81 0.500 None 1.000 4 1 1991 2007
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
disease Neoplasms Neoplastic Process 78 0.400 None 0.964 55 1997 2019
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.400 None 0.929 14 2011 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.400 None 1.000 1 2001 2001
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease Cardiovascular Diseases Disease or Syndrome 33 4 0.400 None 1.000 1 1996 1996
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.400 limited 0 1
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.320 None 1.000 6 2009 2018
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.320 None 1.000 3 1993 2019
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.310 None 1.000 2 1992 2016
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
disease Stomatognathic Diseases Disease or Syndrome 106 8 0.310 None 1.000 2 2002 2006
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.310 None 1.000 2 2010 2018
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 0.310 strong 1.000 2 1 1991 2017
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.310 None 1.000 2 1991 1997
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.300 None 1.000 1 2019 2019
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.300 strong 1.000 1 2015 2015