GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
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: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		phenotype Finding 10 0.100 None 0
CUI: C1846439
Disease: Hypoplasia of the odontoid process
Hypoplasia of the odontoid process 		phenotype Musculoskeletal Diseases Finding 23 1 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face 		phenotype Finding 83 7 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype Finding 10 1 0.100 None 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.100 None 0
CUI: C1854749
Disease: Proximal tapering of metacarpals
Proximal tapering of metacarpals 		phenotype Finding 1 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C1854774
Disease: Dermatan sulfate excretion in urine
Dermatan sulfate excretion in urine 		phenotype Finding 3 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		phenotype Finding 7 0.100 None 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		disease Hemic and Lymphatic Diseases Pathologic Function 61 1 0.100 None 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		phenotype Finding 28 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C0581381
Disease: Recurrent upper respiratory tract infection
Recurrent upper respiratory tract infection 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 3 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0