MAN2B1, mannosidase alpha class 2B member 1, 4125

N. diseases: 66; N. variants: 98
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 2 94 1.000 strong 1.000 29 94 1977 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.300 None 1.000 1 2014 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 6 3 1981 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 6 1 1981 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 6 2 1981 2015
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 2 2009 2019
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 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: C1844813
Disease: Widely spaced teeth
Widely spaced teeth
phenotype Finding 71 10 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 71 17 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 25 1 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
phenotype Finding 45 6 0.100 None 0
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes
phenotype Finding 8 0.100 None 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 104 13 0.100 None 0
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 169 0.100 None 0 1
CUI: C1855418
Disease: Thoracolumbar kyphosis
Thoracolumbar kyphosis
disease Anatomical Abnormality 13 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count
phenotype Laboratory Procedure 8 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0