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: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 2 0.710 None 1.000 2 2 2009 2014
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: C1968610
Disease: Anterolateral radial head dislocation
Anterolateral radial head dislocation 		phenotype Finding 1 0.100 None 0
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
Nasodigitoacoustic syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 6 0.010 None 1.000 1 2019 2019
CUI: C1968607
Disease: Hypoplastic distal humeri
Hypoplastic distal humeri 		phenotype Finding 2 0.100 None 0
CUI: C4510897
Disease: Omodysplasia
Omodysplasia 		disease Disease or Syndrome 3 0.020 None 1.000 2 2009 2013
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: C4021100
Disease: Increased fibular diameter
Increased fibular diameter 		phenotype Finding 5 0.100 None 0
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		disease Anatomical Abnormality 5 0.100 None 0
CUI: C3805420
Disease: Popliteal pterygium
Popliteal pterygium 		phenotype Eye Diseases Finding 6 0.100 None 0
CUI: C0027932
Disease: Neurotic Disorders
Neurotic Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 7 4 0.100 None 1.000 1 1 2010 2010
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 7 0.010 None 1.000 1 2010 2010
CUI: C1844738
Disease: Axillary pterygium
Axillary pterygium 		phenotype Eye Diseases Finding 7 0.100 None 0
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: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype Finding 10 2 0.100 None 0
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype Finding 16 0.100 None 0
CUI: C1850259
Disease: Short tibia
Short tibia 		phenotype Finding 17 0.100 None 0
CUI: C1832117
Disease: Short humerus
Short humerus 		phenotype Congenital Abnormality 24 0.100 None 0
CUI: C0549306
Disease: Mesomelia
Mesomelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 27 4 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: C0038663
Disease: Suicide attempt
Suicide attempt 		phenotype Behavior and Behavior Mechanisms Injury or Poisoning 31 91 0.100 None 1.000 1 1 2012 2012
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 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