GALNS, galactosamine (N-acetyl)-6-sulfatase, 2588

N. diseases: 138; N. variants: 95
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: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 9 0.900 None 1.000 25 7 1980 2016
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 90 0.800 None 1.000 70 90 1988 2019
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.330 None 1.000 3 1999 2019
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 1994 1994
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 72 0.300 None 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.100 None 1.000 38 4 1995 2019
CUI: C0031350
Disease: Pharyngitis
Pharyngitis 		disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 30 0.100 None 0.944 18 2003 2020
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 14 1 1995 2017
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 1.000 14 1994 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 14 3 1995 2017
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		phenotype Pathologic Function 12 23 0.100 None 1.000 1 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype Eye Diseases Finding 46 0.100 None 0
CUI: C0149645
Disease: Cervical myelopathy
Cervical myelopathy 		disease Nervous System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.100 None 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 42 1 0.100 None 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 68 5 0.100 None 0
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		phenotype Sign or Symptom 14 9 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0