GLB1, galactosidase beta 1, 2720

N. diseases: 385; N. variants: 124
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: 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 0.800 strong 1.000 80 72 1977 2018
Gangliosidosis, Generalized GM1, Type 1 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 79 0.760 strong 0.982 57 79 1979 2017
Gangliosidosis, Generalized GM1, Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 61 0.730 strong 1.000 51 61 1991 2018
Gangliosidosis, Generalized GM1, Type 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 53 0.720 None 1.000 50 53 1984 2017
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 31 0.700 None 0.990 103 31 1975 2019
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 0.520 strong 1.000 6 1977 2019
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.430 None 0.667 3 2 2012 2019
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 0.400 None 1.000 14 1981 2018
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 0.320 None 1.000 4 1988 2018
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 0.310 None 1.000 3 1991 2018
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 29 0.310 None 1.000 2 1976 1983
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.310 strong 0.500 2 2003 2004
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.300 None 1.000 1 1976 1976
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 40 7 0.300 None 1.000 1 1976 1976
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 4 0.300 None 1.000 1 1976 1976
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 77 12 0.300 None 1.000 1 1976 1976
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity
phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 None 1.000 1 2015 2015
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity
phenotype Eye Diseases Finding 113 5 0.300 None 1.000 1 1976 1976
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.300 None 1.000 1 2015 2015
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.300 None 1.000 1 1976 1976
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 1 1976 1976
Spondyloepiphyseal Dysplasia Tarda, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.300 None 1.000 1 1976 1976
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 19 0.300 None 1.000 1 1976 1976
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
group Musculoskeletal Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 1995 1995
CUI: C0086196
Disease: Eczema, Infantile
Eczema, Infantile
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2012 2012