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: 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
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.050 None 1.000 5 2014 2020
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.120 None 1.000 2 2014 2016
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.120 None 1.000 2 2015 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.020 None 1.000 2 1975 1996
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease Neoplastic Process 350 19 0.010 None 1.000 1 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2018 2018
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
Subacute Sclerosing Panencephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 47 6 0.010 None 1.000 1 1984 1984
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: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.300 strong 1.000 1 2014 2014
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: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2018 2018
CUI: C3899844
Disease: C4 Deficiency
C4 Deficiency 		disease Disease or Syndrome 5 0.010 None 1.000 1 1977 1977
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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.010 None 1.000 1 2015 2015
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 0.110 None 1.000 1 2016 2016
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2015 2015
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.010 None 1.000 1 2014 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 strong 1.000 1 2015 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2018 2018
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		phenotype Infections Finding 69 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 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: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0