PGM3, phosphoglucomutase 3, 5238

N. diseases: 85; N. variants: 13
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: C4014371
Disease: IMMUNODEFICIENCY 23
IMMUNODEFICIENCY 23 		disease Disease or Syndrome 2 12 0.700 None 1.000 4 12 2014 2015
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 14 0.010 None 1.000 1 2018 2018
CUI: C0149777
Disease: Abscess of skin AND/OR subcutaneous tissue
Abscess of skin AND/OR subcutaneous tissue 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function 2 0.100 None 0
CUI: C1855767
Disease: Reduced natural killer cell count
Reduced natural killer cell count 		phenotype Finding 3 0.100 None 0
CUI: C4531148
Disease: Reduced antigen-specific T cell proliferation
Reduced antigen-specific T cell proliferation 		phenotype Finding 3 0.100 None 0
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		phenotype Finding 4 1 0.100 None 0
CUI: C3899844
Disease: C4 Deficiency
C4 Deficiency 		disease Disease or Syndrome 5 0.010 None 1.000 1 1977 1977
CUI: C4531154
Disease: Abnormal CD4:CD8 ratio
Abnormal CD4:CD8 ratio 		phenotype Finding 5 0.100 None 0
CUI: C4531155
Disease: Abnormal proportion of CD8 T cells
Abnormal proportion of CD8 T cells 		phenotype Finding 6 0.100 None 0
CUI: C0151379
Disease: Rheumatoid factor positive (finding)
Rheumatoid factor positive (finding) 		phenotype Laboratory or Test Result 7 0.100 None 0
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 1 2017 2017
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 9 0.100 None 0
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 11 2 0.100 None 0
CUI: C0393847
Disease: Multifocal motor neuropathy
Multifocal motor neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 3 0.100 None 0
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.100 None 0
CUI: C1839304
Disease: Decreased proportion of CD4-positive T cells
Decreased proportion of CD4-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0
CUI: C0262988
Disease: Vasculitis of the skin
Vasculitis of the skin 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 21 1 0.100 None 0
CUI: C2936739
Disease: Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 22 0.010 None 1.000 1 2018 2018
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 35 12 0.050 None 0.800 5 2014 2018