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: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.100 None 0.989 89 1 2003 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.100 None 1.000 53 2003 2020
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.100 None 1.000 25 2002 2020
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.100 None 1.000 24 2 2003 2020
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		disease Disease or Syndrome 85 1 0.400 None 1.000 13 1 2004 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 8 7 2010 2019
CUI: C0154209
Disease: Hyperestrogenism
Hyperestrogenism 		disease Disease or Syndrome 6 0.060 None 1.000 6 2003 2019
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.060 None 1.000 6 2006 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2005 2019
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.050 None 1.000 5 2017 2019
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		phenotype Laboratory Procedure 21 75 0.100 None 1.000 4 6 2012 2019
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 4 4 2010 2013
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer 		disease Neoplastic Process 24 4 0.040 None 1.000 4 2012 2019
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		phenotype Laboratory or Test Result 21 75 0.100 None 1.000 4 6 2012 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.040 None 1.000 4 2 2007 2018
CUI: C0243066
Disease: Atresia
Atresia 		disease Congenital Abnormality 44 1 0.030 None 1.000 3 2018 2019
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		disease Neoplastic Process 51 18 0.030 None 1.000 3 2008 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1985 2006
CUI: C0431649
Disease: Vaginal septum
Vaginal septum 		disease Congenital Abnormality 2 0.020 None 1.000 2 2006 2015
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.020 None 1.000 2 2006 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 1998 2013
CUI: C3160829
Disease: Urogenital atrophy
Urogenital atrophy 		disease Disease or Syndrome 1 0.020 None 1.000 2 2015 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.020 None 1.000 2 2007 2015
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 1 2 2018 2018
CUI: C0028081
Disease: Night sweats
Night sweats 		phenotype Sign or Symptom 17 0.010 None 1.000 1 2019 2019