MAGT1, magnesium transporter 1, 84061

N. diseases: 120; N. variants: 8
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: C2749206
Disease: Facial dysmorphism, mild
Facial dysmorphism, mild 		phenotype Finding 1 2 0.100 None 0 2
CUI: C2678034
Disease: MENTAL RETARDATION, X-LINKED 95
MENTAL RETARDATION, X-LINKED 95 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 limited 1.000 1 2008 2008
CUI: C4287864
Disease: MAGT1 Deficiency
MAGT1 Deficiency 		disease Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0475858
Disease: Generalized pruritus
Generalized pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom 5 0.010 None 1.000 1 2014 2014
CUI: C1846550
Disease: Decreased T cell activation
Decreased T cell activation 		phenotype Finding 6 0.100 None 0
CUI: C0013374
Disease: Dysgammaglobulinemia
Dysgammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 11 6 0.730 None 1.000 5 6 2011 2020
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 13 0.010 None 1.000 1 2018 2018
CUI: C2242710
Disease: Intra-Abdominal Hypertension
Intra-Abdominal Hypertension 		disease Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C2987145
Disease: Pancreatic Intraepithelial Neoplasia-3
Pancreatic Intraepithelial Neoplasia-3 		disease Neoplastic Process 19 0.010 None 1.000 1 2010 2010
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: C0035585
Disease: Rickettsia Infections
Rickettsia Infections 		group Infections Disease or Syndrome 22 0.010 None 1.000 1 2017 2017
CUI: C0032320
Disease: Pneumoperitoneum
Pneumoperitoneum 		disease Digestive System Diseases Disease or Syndrome 28 0.010 None 1.000 1 2018 2018
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection 		phenotype Infections Finding 32 0.100 None 0
CUI: C0278519
Disease: Recurrent Childhood Acute Lymphoblastic Leukemia
Recurrent Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 37 0.010 None 1.000 1 2012 2012
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.010 None 1.000 1 2015 2015
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 43 9 0.010 None 1.000 1 2008 2008
CUI: C2609129
Disease: Autoimmune pancreatitis
Autoimmune pancreatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2010 2010
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		disease Disease or Syndrome 81 29 0.010 None 1.000 1 2019 2019
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 2011 2011
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.010 None 1.000 1 2014 2014
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 0.130 None 1.000 3 2 2011 2019
CUI: C0600260
Disease: Lung Diseases, Obstructive
Lung Diseases, Obstructive 		group Respiratory Tract Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2020 2020
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 2015 2015
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 117 13 0.010 None 1.000 1 2017 2017