COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: 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 0.700 strong 0.977 172 25 1980 2020
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 0.890 None 1.000 60 65 1982 2019
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
disease Disease or Syndrome 5 81 0.100 None 1.000 42 38 1984 2018
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 0.950 strong 1.000 27 35 1991 2018
Osteogenesis imperfecta type IV (disorder)
disease Disease or Syndrome; Congenital Abnormality 12 65 0.800 strong 1.000 25 28 1985 2015
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 0.660 strong 1.000 21 31 1985 2011
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.400 None 1.000 18 1987 2014
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
disease Disease or Syndrome 4 37 0.100 None 1.000 18 13 1984 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 0.400 strong 1.000 16 1 1987 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 16 1 1979 2018
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 0.390 None 1.000 11 1987 2000
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.090 None 1.000 9 1987 2014
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.080 None 1.000 8 2 2004 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.670 strong 1.000 7 1 1985 2018
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.060 None 1.000 6 1985 1990
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.340 None 1.000 5 1987 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.040 None 1.000 4 1986 1995
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.130 None 1.000 4 1 2007 2019
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired
disease Stomatognathic Diseases Disease or Syndrome 62 10 0.040 None 0.750 4 2008 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.040 None 0.750 4 1 2010 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.030 None 1.000 3 2016 2018
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis
disease Stomatognathic Diseases Disease or Syndrome 106 8 0.320 None 1.000 3 1995 2006
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease Otorhinolaryngologic Diseases Disease or Syndrome 49 11 0.130 None 0.333 3 2004 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.220 None 1.000 3 1994 2009
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.030 None 1.000 3 2016 2018