GPC6, glypican 6, 10082

N. diseases: 86; N. variants: 15
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: C2936816
Disease: Micromelic dysplasia, congenital, with dislocation of radius
Micromelic dysplasia, congenital, with dislocation of radius 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C4317043
Disease: Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C1832117
Disease: Short humerus
Short humerus 		phenotype Congenital Abnormality 24 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1844738
Disease: Axillary pterygium
Axillary pterygium 		phenotype Eye Diseases Finding 7 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia 		phenotype Finding 17 0.100 None 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype Finding 10 2 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C1968605
Disease: Limited elbow flexion/extension
Limited elbow flexion/extension 		phenotype Finding 3 0.100 None 0
CUI: C1968606
Disease: Limited knee flexion/extension
Limited knee flexion/extension 		phenotype Finding 5 4 0.100 None 0
CUI: C1968607
Disease: Hypoplastic distal humeri
Hypoplastic distal humeri 		phenotype Finding 2 0.100 None 0
CUI: C1968610
Disease: Anterolateral radial head dislocation
Anterolateral radial head dislocation 		phenotype Finding 1 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C3805420
Disease: Popliteal pterygium
Popliteal pterygium 		phenotype Eye Diseases Finding 6 0.100 None 0
CUI: C4021100
Disease: Increased fibular diameter
Increased fibular diameter 		phenotype Finding 5 0.100 None 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 30 2 0.100 None 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.010 None 1.000 1 2019 2019