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: C1859069
Disease: Brittle Bone Disorder
Brittle Bone Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 1 0.020 None 1.000 2 2004 2008
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma 		disease Neoplastic Process 1 0.010 None < 0.001 1 2019 2019
CUI: C1394142
Disease: Cortical hyperostosis
Cortical hyperostosis 		disease Anatomical Abnormality 1 1 0.010 None 1.000 1 1 2008 2008
CUI: C1834345
Disease: Periosteal thickening of long tubular bones
Periosteal thickening of long tubular bones 		phenotype Finding 1 0.100 None 0
CUI: C1852924
Disease: OI-EDS Combined Syndrome
OI-EDS Combined Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4015948
Disease: OSTEOGENESIS IMPERFECTA, TYPE III/IV
OSTEOGENESIS IMPERFECTA, TYPE III/IV 		disease Finding 1 1 0.100 None 0 1
CUI: C4015949
Disease: OSTEOGENESIS IMPERFECTA, TYPE IIC
OSTEOGENESIS IMPERFECTA, TYPE IIC 		disease Finding 1 1 0.100 None 0 1
CUI: C4015950
Disease: OSTEOGENESIS IMPERFECTA, TYPE I, MILD
OSTEOGENESIS IMPERFECTA, TYPE I, MILD 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4015951
Disease: BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS 		phenotype Finding 1 3 0.100 None 0 3
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
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: C0334464
Disease: Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) 		disease Neoplasms Neoplastic Process 2 0.020 None 1.000 2 2002 2006
CUI: C0011330
Disease: Dental Calculus
Dental Calculus 		phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Finding 2 0.010 None 1.000 1 2007 2007
CUI: C1707508
Disease: Conventional Dermatofibrosarcoma Protuberans
Conventional Dermatofibrosarcoma Protuberans 		disease Neoplastic Process 2 0.010 None 1.000 1 2001 2001
CUI: C4707450
Disease: Ring chromosome 5 syndrome
Ring chromosome 5 syndrome 		disease Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C0158713
Disease: Bilateral congenital dislocation of hip
Bilateral congenital dislocation of hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0.100 None 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 2 51 0.100 None 0 35
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		phenotype Finding 2 0.100 None 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		phenotype Finding 2 0.100 None 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 7 0.100 None 0 1
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		phenotype Finding 2 0.100 None 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025145
Disease: Cortical irregularity
Cortical irregularity 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
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: C0152093
Disease: Hypermobility syndrome
Hypermobility syndrome 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
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 1 2000 2000