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: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.600 None 1.000 3 2004 2011
CUI: C0268356
Disease: Osteogenesis imperfecta with blue sclerae AND normal teeth
Osteogenesis imperfecta with blue sclerae AND normal teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 3 0.400 strong 1.000 1 3 2006 2006
CUI: C4310978
Disease: EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME 		disease Disease or Syndrome 1 1 0.100 None 0 1
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 0.390 None 1.000 11 1987 2000
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 1.000 1 16 2016 2016
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 5 0.010 None 1.000 1 1994 1994
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 6
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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 14 0.010 None 1.000 1 1994 1994
CUI: C0263664
Disease: Generalized morphea
Generalized morphea 		disease Skin and Connective Tissue Diseases Disease or Syndrome 3 0.010 None 1.000 1 1990 1990
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 0.400 strong 1.000 1 4 2006 2006
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		disease Disease or Syndrome 4 37 0.100 None 1.000 18 13 1984 2017
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		phenotype Finding 4 1 0.100 None 0
CUI: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		disease Disease or Syndrome 5 81 0.100 None 1.000 42 38 1984 2018
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 5 10 0.010 None 1.000 1 2014 2014
CUI: C0036310
Disease: Scheuermann's Disease
Scheuermann's Disease 		disease Musculoskeletal Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1992 1992
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 5 6 0.010 None < 0.001 1 1986 1986
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		phenotype Finding 6 1 0.100 None 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		phenotype Finding 6 0.100 None 0
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 7 391 0.010 None 1.000 1 1991 1991