DDRGK1, DDRGK domain containing 1, 65992

N. diseases: 49; N. variants: 2
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: C1865185
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal Dysplasia, Shohat Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 1 0.410 None 1.000 1 1 2017 2017
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.110 None 1.000 1 1 2011 2011
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.110 None 1.000 1 2017 2017
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype Finding 34 0.100 None 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype Finding 21 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		phenotype Finding 31 0.100 None 0
CUI: C1832598
Disease: Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance 		phenotype Finding 6 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 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 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C4024672
Disease: Central vertebral hypoplasia
Central vertebral hypoplasia 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4021246
Disease: Abnormal epiphyseal ossification
Abnormal epiphyseal ossification 		phenotype Finding 1 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		phenotype Finding 13 0.100 None 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C1864298
Disease: Fibular overgrowth
Fibular overgrowth 		phenotype Finding 2 0.100 None 0
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype Finding 32 1 0.100 None 0
CUI: C1849063
Disease: Short iliac bones
Short iliac bones 		phenotype Finding 4 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0