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: C0855096
Disease: B-cell small lymphocytic lymphoma recurrent
B-cell small lymphocytic lymphoma recurrent 		disease Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C4022890
Disease: Specific pneumococcal antibody deficiency
Specific pneumococcal antibody deficiency 		phenotype Finding 1 0.100 None 0
CUI: C4072920
Disease: Increased proportion of transitional B cells
Increased proportion of transitional B cells 		phenotype Finding 1 0.100 None 0
CUI: C4072925
Disease: Decreased proportion of class-switched memory B cells
Decreased proportion of class-switched memory B cells 		phenotype Finding 1 0.100 None 0
CUI: C4087393
Disease: Marginal zone lymphoma refractory
Marginal zone lymphoma refractory 		disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C2750068
Disease: Roifman-Chitayat Syndrome
Roifman-Chitayat Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 3 0.300 None 1.000 1 2018 2018
CUI: C4544791
Disease: PIK3CA related overgrowth syndrome
PIK3CA related overgrowth syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C4721661
Disease: Stage IV Lung Squamous Cell Carcinoma AJCC v7
Stage IV Lung Squamous Cell Carcinoma AJCC v7 		disease Neoplastic Process 4 0.010 None 1.000 1 2019 2019
CUI: C1333431
Disease: EBV-Related Lymphoma
EBV-Related Lymphoma 		disease Neoplastic Process 5 1 0.020 None 1.000 2 2017 2019
CUI: C0240958
Disease: sciatic nerve pain
sciatic nerve pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0.010 None 1.000 1 2019 2019
CUI: C1332912
Disease: Cervical Clear Cell Adenocarcinoma
Cervical Clear Cell Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 5 0.010 None 1.000 1 2013 2013
CUI: C1335367
Disease: Parotid Gland Squamous Cell Carcinoma
Parotid Gland Squamous Cell Carcinoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2016 2016
CUI: C1610069
Disease: Circulatory depression
Circulatory depression 		disease Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C4013425
Disease: Neuroendocrine cervical carcinoma
Neuroendocrine cervical carcinoma 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C4041147
Disease: Acute exacerbation of chronic obstructive bronchitis
Acute exacerbation of chronic obstructive bronchitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 5 0.010 None 1.000 1 2012 2012
CUI: C4727392
Disease: Recurrent Salivary Duct Carcinoma
Recurrent Salivary Duct Carcinoma 		disease Neoplastic Process 5 0.010 None 1.000 1 2018 2018
CUI: C0276168
Disease: Egg drop syndrome
Egg drop syndrome 		disease Infections Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C1328402
Disease: Metastatic glioma
Metastatic glioma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C2363955
Disease: Venous reflux
Venous reflux 		disease Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C3812874
Disease: Endometrioid intraepithelial neoplasia
Endometrioid intraepithelial neoplasia 		disease Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C4055466
Disease: Soft Tissue Angiosarcoma
Soft Tissue Angiosarcoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		disease Disease or Syndrome 6 2 0.010 None 1.000 1 2019 2019
CUI: C4687446
Disease: Refractory Glioblastoma
Refractory Glioblastoma 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2019 2019
CUI: C4285730
Disease: Activated PI3 kinase delta syndrome
Activated PI3 kinase delta syndrome 		disease Disease or Syndrome 7 0.040 None 1.000 4 2017 2019
CUI: C0813148
Disease: Metastatic Endometrial Carcinoma
Metastatic Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 7 0.010 None 1.000 1 2014 2014