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 1.000 13 1996 2015
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.060 None 0.833 6 2000 2018
Columnar Cell Hyperplasia of the Breast
disease Neoplastic Process 38 2 0.050 None 0.800 5 2004 2014
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma
disease Neoplastic Process 162 3 0.030 None 1.000 3 2015 2017
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
disease Neoplastic Process 166 3 0.030 None 1.000 3 2015 2017
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm
phenotype Neoplastic Process 169 3 0.030 None 1.000 3 2016 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 3 2 2012 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1996 2013
Non-Metastatic Childhood Soft Tissue Sarcoma
disease Neoplastic Process 160 3 0.030 None 1.000 3 2015 2017
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm
group Neoplastic Process 163 3 0.020 None 1.000 2 2016 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2007 2010
THYROID CARCINOMA, SPORADIC MEDULLARY
disease Neoplastic Process 22 11 0.020 None 1.000 2 2 1998 2002
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 2 2011 2011
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2017 2017
CUI: C0238790
Disease: bone destruction
bone destruction
disease Disease or Syndrome 234 3 0.010 None 1.000 1 2004 2004
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
phenotype Sign or Symptom 27 2 0.010 None 1.000 1 1992 1992
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2018 2018
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2018 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2018 2018
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.010 None 1.000 1 2010 2010
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.010 None 1.000 1 1999 1999
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
disease Neoplastic Process 22 0.010 None 1.000 1 2016 2016
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
disease Neoplastic Process 87 9 0.010 None < 0.001 1 2019 2019
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C3495721
Disease: Spitzoid melanoma
Spitzoid melanoma
disease Neoplastic Process 14 0.010 None 1.000 1 2016 2016