EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.964 28 2004 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.040 None 1.000 4 2012 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2013 2016
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
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.010 None 1.000 1 2016 2016
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.010 None 1.000 1 2016 2016
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2019 2019
CUI: C0279822
Disease: recurrent pheochromocytoma
recurrent pheochromocytoma
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0429021
Disease: P wave duration (observable entity)
P wave duration (observable entity)
phenotype Clinical Attribute 10 18 0.100 None 1.000 1 2 2017 2017
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2018 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2017 2017
CUI: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology
disease Disease or Syndrome 29 0.010 None 1.000 1 2010 2010
Gastrointestinal vascular malformation
disease Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration
disease Disease or Syndrome 84 2 0.010 None 1.000 1 2018 2018
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.010 None 1.000 1 2018 2018
CUI: C1510885
Disease: Angiogenic Switch
Angiogenic Switch
disease Neoplastic Process 96 3 0.010 None 1.000 1 2015 2015
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.010 None 1.000 1 2016 2016
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2017 2017
CUI: C2945695
Disease: Limb ischemia
Limb ischemia
disease Disease or Syndrome 171 3 0.010 None 1.000 1 2016 2016
Non-Metastatic Childhood Soft Tissue Sarcoma
disease Neoplastic Process 160 3 0.010 None 1.000 1 2016 2016
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination
disease Neoplastic Process 170 0.010 None 1.000 1 2015 2015
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.010 None 1.000 1 2016 2016
CUI: C0239935
Disease: Hematocrit increased
Hematocrit increased
phenotype Finding 7 1 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.070 None 1.000 7 1 2010 2019