HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
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: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
phenotype Laboratory Procedure 40 220 0.100 None 1.000 5 21 2008 2015
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.040 None 1.000 4 1984 2006
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.120 None 1.000 3 1 2002 2013
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid)
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 237 4 0.030 None 1.000 3 1984 2006
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.030 None 1.000 3 1984 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2014 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2013 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.020 None 1.000 2 2013 2013
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 2 2 2015 2017
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 2 1 2013 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2014 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2000 2000
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
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 2013 2013
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2014 2014
CUI: C1285654
Disease: Memory performance
Memory performance
phenotype Mental Process 40 71 0.100 None 1.000 1 1 2018 2018
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2016 2016
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.010 None 1.000 1 2019 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2009 2009
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2017 2017
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
disease Disease or Syndrome 35 0.010 None 1.000 1 1985 1985
CUI: C3158111
Disease: response to SSRI
response to SSRI
phenotype Cell Function 28 53 0.100 None 1.000 1 1 2018 2018
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.010 None 1.000 1 2007 2007
Mean corpuscular hemoglobin concentration determination
phenotype Laboratory Procedure 10 19 0.100 None 1.000 1 1 2013 2013
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2016 2016