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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.765 17 3 2004 2017
CUI: C0263490
Disease: Brittle hair
Brittle hair
disease Disease or Syndrome 45 1 0.120 None 1.000 2 1995 1998
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7
disease Neoplastic Process 44 3 0.020 None 1.000 2 1 2008 2013
CUI: C4524268
Disease: Advanced lung cancer
Advanced lung cancer
disease Neoplastic Process 59 9 0.020 None 1.000 2 2010 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
Malignant neoplasm of stomach stage IV
disease Neoplastic Process 78 7 0.010 None 1.000 1 2019 2019
Non-small cell lung cancer stage IIIA
disease Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2018 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2010 2010
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 1997 1997
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 1 2019 2019
Treatment related acute myeloid leukaemia
disease Neoplastic Process 65 4 0.010 None 1.000 1 2006 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2009 2009
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
disease Neoplastic Process 350 19 0.010 None 1.000 1 1995 1995
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2011 2011
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2011 2011
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2011 2011
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2011 2011
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2011 2011
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma
disease Neoplastic Process 18 0.010 None 1.000 1 2014 2014
progesterone receptor-negative breast cancer
disease Neoplastic Process 24 11 0.010 None 1.000 1 2 2018 2018
progesterone receptor-positive breast cancer
disease Neoplastic Process 28 17 0.010 None 1.000 1 2 2018 2018
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis
disease Disease or Syndrome 20 1 0.100 None 0