SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
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.
Fenestration (morphologic abnormality)
disease Acquired Abnormality 43 0.010 None 1.000 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.400 strong 1.000 1 2016 2016
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2019 2019
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.020 None 1.000 2 2017 2017
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6 0.020 None 0.500 2 2013 2017
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 2017 2017
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2011 2011
Morphological abnormality of the pyramidal tract
disease Anatomical Abnormality 18 0.100 None 0
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.100 None 0 1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 21 1 1991 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.480 None 1.000 10 1998 2019
Congenital hypoplasia of adrenal gland
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.030 None 0.667 3 1 2010 2015
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.020 None 1.000 2 1 2011 2013
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.020 None 1.000 2 2015 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.020 None 1.000 2 2015 2017
CUI: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 42 1 0.020 None 1.000 2 2013 2017
Congenital arteriovenous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.010 None 1.000 1 2018 2018
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.010 None 1.000 1 2008 2008
CUI: C0265950
Disease: Venous malformation
Venous malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.010 None 1.000 1 2013 2013
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.010 None 1.000 1 2013 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0