FUT1, fucosyltransferase 1 (H blood group), 2523

N. diseases: 136; N. variants: 9
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: C0940933
Disease: infection as a complication
infection as a complication 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C1859408
Disease: BOMBAY PHENOTYPE
BOMBAY PHENOTYPE 		phenotype Finding 1 2 0.100 None 0 2
CUI: C1859411
Disease: PARA-BOMBAY PHENOTYPE
PARA-BOMBAY PHENOTYPE 		phenotype Finding 1 3 0.100 None 0 3
CUI: C4749062
Disease: BOMBAY PHENOTYPE, DIGENIC
BOMBAY PHENOTYPE, DIGENIC 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4288409
Disease: Perforin Deficiency
Perforin Deficiency 		disease Immune System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C0276093
Disease: edema disease
edema disease 		phenotype Infections Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 16 31 0.020 None 1.000 2 2016 2019
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 7 0.010 None 1.000 1 2017 2017
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 26 0.010 None 1.000 1 2010 2010
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 15 0.020 None 1.000 2 2009 2011
CUI: C0343751
Disease: Asymptomatic human immunodeficiency virus infection
Asymptomatic human immunodeficiency virus infection 		disease Infections; Immune System Diseases Disease or Syndrome 26 0.010 None 1.000 1 1998 1998
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 27 158 0.010 None 1.000 1 2016 2016
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		disease Neoplastic Process 27 0.010 None 1.000 1 2015 2015
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 36 90 0.010 None 1.000 1 2016 2016
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 38 42 0.020 None 1.000 2 2011 2012
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2000 2000
CUI: C4317091
Disease: Trisomy 18 Syndrome
Trisomy 18 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2000 2000
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 10 0.010 None 1.000 1 2014 2014
CUI: C0920028
Disease: Leukaemia recurrent
Leukaemia recurrent 		disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2018 2018
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2009 2009
CUI: C0001925
Disease: Albuminuria
Albuminuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 76 59 0.100 None 1.000 1 1 2018 2018
CUI: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		disease Neoplastic Process 78 7 0.010 None 1.000 1 2012 2012
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 80 43 0.020 None 1.000 2 2019 2019
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 0.010 None 1.000 1 2005 2005
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.040 None 1.000 4 2011 2015