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: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.100 None 0.867 15 2017 2020
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.100 None 1.000 15 2017 2019
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.100 None 1.000 14 2017 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.100 None 1.000 13 2017 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 11 2017 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.080 None 1.000 8 2017 2019
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer
disease Neoplastic Process 71 3 0.080 None 1.000 8 2017 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2017 2019
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder)
disease Disease or Syndrome 130 5 0.050 None 1.000 5 2017 2019
CUI: C1402294
Disease: Primary Lesion
Primary Lesion
phenotype Disease or Syndrome 71 8 0.050 None 1.000 5 2017 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.050 None 1.000 5 2017 2019
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I
disease Neoplastic Process 115 1 0.040 None 1.000 4 2017 2018
Aggressive Adult Non-Hodgkin Lymphoma
disease Neoplastic Process 16 0.040 None 1.000 4 2018 2018
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.040 None 1.000 4 2017 2019
CUI: C1332225
Disease: Aggressive Non-Hodgkin Lymphoma
Aggressive Non-Hodgkin Lymphoma
disease Neoplastic Process 57 1 0.040 None 1.000 4 2018 2018
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
disease Disease or Syndrome 384 40 0.040 None 1.000 4 2017 2019
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.030 None 1.000 3 2017 2018
Non-small cell lung cancer stage III
disease Neoplastic Process 16 1 0.030 None 1.000 3 2019 2019
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.030 None 1.000 3 2017 2018
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass
phenotype Anatomical Abnormality 12 1 0.030 None 1.000 3 2017 2018
CUI: C1334170
Disease: Indolent Non-Hodgkin Lymphoma
Indolent Non-Hodgkin Lymphoma
disease Neoplastic Process 27 0.030 None 1.000 3 2018 2019
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer
disease Neoplastic Process 40 3 0.030 None 1.000 3 2017 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.020 None 1.000 2 2017 2019
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.020 None 1.000 2 2017 2019
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.020 None 1.000 2 2017 2019