MAN2B1, mannosidase alpha class 2B member 1, 4125

N. diseases: 98; N. variants: 71
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: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 69 0.900 1.000 22 69 1973 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Male Urogenital Diseases Disease or Syndrome 236 48 0.300 1 2015 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 252 7 0.300 strong 1 1999 1999
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.300 strong 0
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.300 limited 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 6 3 1982 2016
Mean corpuscular hemoglobin concentration determination
phenotype Laboratory Procedure 100 583 0.100 1 1 2009 2009
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 48 1 0.100 0
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria
phenotype Finding 23 0.100 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
phenotype Finding 29 4 0.100 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 19 0.100 0
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height
phenotype Finding 6 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis
phenotype Anatomical Abnormality 4 0.100 0
CUI: C1854888
Disease: Progressive retinal degeneration
Progressive retinal degeneration
phenotype Finding 2 0.100 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Finding 57 0.100 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
phenotype Finding 44 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1848530
Disease: Abnormal visual pursuit
Abnormal visual pursuit
phenotype Finding 19 0.100 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 95 2 0.100 0