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.
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 19 0.400 definitive 1.000 34 19 1989 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.960 25 2002 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 21 1 1991 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 21 1 1991 2016
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.900 10 1996 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.440 strong 1.000 8 3 2000 2019
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
disease Finding 1 11 0.600 strong 1.000 7 11 2000 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.050 None 0.800 5 1992 2015
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.040 None 1.000 4 2003 2017
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.030 None 1.000 3 2017 2020
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype Finding 75 24 0.100 None 1.000 3 1 2011 2015
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY
disease Disease or Syndrome 6 16 0.030 None 1.000 3 2011 2019
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition
disease Disease or Syndrome 72 2 0.020 None 1.000 2 2017 2017
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype Laboratory or Test Result 13 0.400 strong 1.000 2 2011 2012
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2017 2019
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
disease Disease or Syndrome 6 5 0.300 None 1.000 2 2009 2012
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma
disease Neoplastic Process 153 11 0.020 None 1.000 2 2010 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
Fenestration (morphologic abnormality)
disease Acquired Abnormality 43 0.010 None 1.000 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2019 2019
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance
phenotype Disease or Syndrome 47 0.010 None 1.000 1 2017 2017
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2004 2004