GORAB, golgin, RAB6 interacting, 92344

N. diseases: 60; 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: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C0581342
Disease: Redundant skin
Redundant skin 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Pathologic Function 48 2 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2012 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2012 2012
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance 		phenotype Finding 14 0.400 strong 1.000 1 2017 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype Musculoskeletal Diseases Finding 25 0.100 None 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		phenotype Finding 18 5 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		phenotype Finding 16 0.100 None 0
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		phenotype Finding 13 0.100 None 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		phenotype Finding 40 1 0.100 None 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype Finding 123 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 6 0.770 None 1.000 7 6 2008 2019