SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
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: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.700 moderate 0.906 32 5 2009 2020
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
disease Disease or Syndrome 1 0.300 None 0
CUI: C1866432
Disease: OBESITY, SUSCEPTIBILITY TO
OBESITY, SUSCEPTIBILITY TO
phenotype Finding 1 0.300 None 0
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
disease Disease or Syndrome 1 0.300 None 0
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
phenotype Finding 1 0.300 None 0
CUI: C3552491
Disease: AUTISM, SUSCEPTIBILITY TO, 14A
AUTISM, SUSCEPTIBILITY TO, 14A
phenotype Finding 1 0.300 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 2010 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.110 None 1.000 1 2013 2013
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 5 3 2009 2019
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure
phenotype Diagnostic Procedure 88 252 0.100 None 1.000 2 2 2009 2009
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 2 4 2017 2018
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
phenotype Finding 88 252 0.100 None 1.000 2 2 2009 2009
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742 0.100 None 1.000 1 1 2010 2010
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2015 2015
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 2 2016 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2019 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 1 1 2015 2015
CUI: C0005910
Disease: Body Weight
Body Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.100 None 1.000 1 1 2009 2009
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C3893645
Disease: response to ACE inhibitor
response to ACE inhibitor
phenotype Organism Function 15 26 0.100 None 1.000 1 1 2017 2017
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 2 2018 2018
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 1 1 2017 2017
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019