COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
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: C4021383
Disease: Broad middle phalanx of finger
Broad middle phalanx of finger 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025047
Disease: Proximal femoral metaphyseal abnormality
Proximal femoral metaphyseal abnormality 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1834980
Disease: Metaphyseal cupping of proximal phalanges
Metaphyseal cupping of proximal phalanges 		phenotype Finding 2 0.100 None 0
CUI: C1859697
Disease: Enlargement of the proximal femoral epiphysis
Enlargement of the proximal femoral epiphysis 		phenotype Finding 2 1 0.100 None 0
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing 		disease Anatomical Abnormality 2 1 0.100 None 0
CUI: C1834975
Disease: Irregular acetabular roof
Irregular acetabular roof 		phenotype Finding 3 0.100 None 0
CUI: C1855171
Disease: Metaphyseal cupping of metacarpals
Metaphyseal cupping of metacarpals 		phenotype Finding 3 0.100 None 0
CUI: C2748503
Disease: Corneal Dystrophy, Subepithelial Mucinous
Corneal Dystrophy, Subepithelial Mucinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.020 None < 0.001 2 1995 1998
CUI: C1861519
Disease: Moderately short stature
Moderately short stature 		phenotype Finding 5 0.100 None 0
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 16 0.950 None 1.000 17 16 1994 2019
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		phenotype Finding 14 0.100 None 0
CUI: C0410606
Disease: Cervical Disc Degenerative Disorder
Cervical Disc Degenerative Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.200 None 1.000 1 2011 2011
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 19 0.030 None 1.000 3 1 1998 2019
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 16 0.010 None 1.000 1 1992 1992
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.180 None 1.000 8 1 1996 2018
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		phenotype Finding 20 2 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases 		group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.010 None 1.000 1 2005 2005
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.020 None 1.000 2 1995 2001
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 9 0.010 None 1.000 1 1997 1997
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.010 None 1.000 1 1997 1997
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.110 None 1.000 1 2018 2018
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0