COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 336; N. variants: 189
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; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.900 strong 0.975 142 31 1975 2018
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 137 1.000 0.963 88 102 1989 2018
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
disease Neoplastic Process 31 0.400 0.959 49 1997 2018
Osteogenesis imperfecta, dominant perinatal lethal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 8 29 0.880 1.000 41 2 1986 2016
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma
disease Neoplasms Neoplastic Process 31 0.100 0.973 37 1997 2018
Osteogenesis imperfecta, recessive perinatal lethal
disease Congenital Abnormality; Disease or Syndrome 2 53 0.100 29 39 1986 2015
Osteogenesis imperfecta type III (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 12 50 0.960 1.000 26 16 1989 2016
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.400 1.000 24 1 1996 2014
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
disease Neoplasms Neoplastic Process 15 0.100 1.000 22 1997 2018
Osteogenesis imperfecta type IV (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 12 46 0.960 1.000 22 15 1989 2016
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.590 strong 1.000 19 4 1989 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 561 149 0.100 1.000 15 1990 2016
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease Otorhinolaryngologic Diseases Disease or Syndrome 16 3 0.190 0.889 9 2002 2014
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 975 92 0.180 0.857 8 1998 2017
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.750 1.000 7 3 1993 2015
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.310 1.000 5 2009 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.310 1.000 5 2011 2016
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 178 2 0.040 1.000 4 2004 2012
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 328 21 0.140 1.000 4 3 2001 2006
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 1102 74 0.040 1.000 4 2 1991 2014
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.610 1.000 4 2 1984 1991
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.130 0.667 4 1 2007 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 3 2015 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1311 784 0.030 3 2005 2008
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplastic Process 1041 61 0.030 1.000 3 2 1991 2014