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: 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
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
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		disease Neoplasms Neoplastic Process 77 0.100 None 0.965 57 1997 2019
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		disease Neoplasms Neoplastic Process 78 0.400 None 0.964 55 1997 2019
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
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: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma 		disease Neoplasms Neoplastic Process 33 0.100 None 0.933 30 1997 2019
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
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
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.840 25 1999 2019
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		disease Disease or Syndrome; Congenital Abnormality 12 65 0.970 None 1.000 22 35 1989 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 20 1 1957 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 20 2 1957 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.100 None 1.000 16 1990 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 0.917 12 2015 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.200 None 0.900 10 1 1998 2018
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		disease Otorhinolaryngologic Diseases Disease or Syndrome 49 11 0.190 None 0.778 9 1 2002 2014
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: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.080 None 1.000 8 1 2000 2011
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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.160 None 0.833 6 1 2007 2018
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.060 None 1.000 6 2000 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.250 None 1.000 6 1994 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2018 2019