BGN, biglycan, 633

N. diseases: 253; N. variants: 7
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: C0426807
Disease: Short clavicle
Short clavicle 		phenotype Finding 26 0.100 None 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		phenotype Musculoskeletal Diseases Finding 4 2 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype Finding 66 7 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		phenotype Finding 26 2 0.100 None 0
CUI: C1865841
Disease: Flared iliac wings
Flared iliac wings 		phenotype Finding 19 0.100 None 0
CUI: C4025053
Disease: Broad long bone diaphyses
Broad long bone diaphyses 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		phenotype Finding 20 0.100 None 0
CUI: C4025457
Disease: Cone-shaped distal radial epiphysis
Cone-shaped distal radial epiphysis 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease Congenital Abnormality 97 7 0.100 None 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx 		phenotype Finding 6 0.100 None 0
CUI: C4025255
Disease: Cone-shaped epiphyses fused within their metaphyses
Cone-shaped epiphyses fused within their metaphyses 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021108
Disease: Anterior wedging of T12
Anterior wedging of T12 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0
CUI: C4025262
Disease: Prominent styloid process of ulna
Prominent styloid process of ulna 		phenotype Finding 1 0.100 None 0
CUI: C1855239
Disease: Cone-shaped metacarpal epiphyses
Cone-shaped metacarpal epiphyses 		phenotype Finding 3 0.100 None 0
CUI: C4021652
Disease: Anterior wedging of T11
Anterior wedging of T11 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0282102
Disease: Chondrodysplasia punctata, X-linked dominant type
Chondrodysplasia punctata, X-linked dominant type 		disease Musculoskeletal Diseases Disease or Syndrome 9 39 0.010 None 1.000 1 1992 1992
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.010 None 1.000 1 1992 1992
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.010 None 1.000 1 1992 1992