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: C0266062
Disease: Posterior open bite
Posterior open bite 		phenotype Stomatognathic Diseases Congenital Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C0795821
Disease: Chromosome 7, trisomy 7q
Chromosome 7, trisomy 7q 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.010 None 1.000 1 1981 1981
CUI: C1854749
Disease: Proximal tapering of metacarpals
Proximal tapering of metacarpals 		phenotype Finding 1 0.100 None 0
CUI: C4025306
Disease: Anterior beaking of lower thoracic vertebrae
Anterior beaking of lower thoracic vertebrae 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0342143
Disease: Hyperthyroidism secondary to amiodarone
Hyperthyroidism secondary to amiodarone 		disease Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1854774
Disease: Dermatan sulfate excretion in urine
Dermatan sulfate excretion in urine 		phenotype Finding 3 0.100 None 0
CUI: C4021541
Disease: Anterior beaking of lumbar vertebrae
Anterior beaking of lumbar vertebrae 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 37 1.000 strong 1.000 77 37 1973 2019
CUI: C0021479
Disease: INJECTED EYE
INJECTED EYE 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 6 0.010 None 1.000 1 2003 2003
CUI: C0263634
Disease: Abnormal granulation tissue
Abnormal granulation tissue 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 6 0.010 None 1.000 1 1998 1998
CUI: C0029166
Disease: Oral Manifestations
Oral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Sign or Symptom 7 0.010 None 1.000 1 2019 2019
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		phenotype Finding 7 0.100 None 0
CUI: C0521719
Disease: Clouding of corneal stroma
Clouding of corneal stroma 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2001 2001
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		phenotype Finding 8 2 0.100 None 0
CUI: C0426359
Disease: Urinary symptoms
Urinary symptoms 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2010 2010
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		phenotype Finding 10 0.100 None 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype Finding 10 1 0.100 None 0
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 124 0.100 None 1.000 9 2 1994 2018
CUI: C0040149
Disease: Subacute thyroiditis
Subacute thyroiditis 		disease Endocrine System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		phenotype Finding 14 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: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.100 None 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		phenotype Finding 25 4 0.100 None 0