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 0.060 None 1.000 6 2003 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.060 None 0.833 6 4 2008 2014
CUI: C4068743
Disease: Juvenile open angle
Juvenile open angle 		disease Disease or Syndrome 7 1 0.050 None 1.000 5 2002 2018
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		disease Disease or Syndrome 7 32 0.400 None 1.000 3 3 1997 2002
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.020 None 1.000 2 3 2012 2018
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		disease Neoplastic Process 51 18 0.020 None 0.500 2 1 2009 2009
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2003 2003
CUI: C1827377
Disease: Slow acetylator due to N-acetyltransferase enzyme variant
Slow acetylator due to N-acetyltransferase enzyme variant 		disease Disease or Syndrome 20 8 0.020 None 1.000 2 2007 2010
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.020 None 1.000 2 2005 2015
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.020 None 0.500 2 2014 2014
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.020 None 0.500 2 2014 2014
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.020 None 0.500 2 2014 2014
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.020 None 0.500 2 2014 2014
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.020 None 0.500 2 2014 2014
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.020 None 1.000 2 2008 2015
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		disease Congenital Abnormality 6 3 0.010 None 1.000 1 2 2009 2009
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		disease Congenital Abnormality 3 0.200 None 1.000 1 2003 2003
CUI: C0406208
Disease: Suntan
Suntan 		phenotype Organ or Tissue Function 53 94 0.100 None 1.000 1 1 2018 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 1 2017 2017
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		disease Disease or Syndrome 11 14 0.100 None 1.000 1 1 2019 2019
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.010 None 1.000 1 2008 2008
CUI: C1304119
Disease: Chronic stable plaque psoriasis
Chronic stable plaque psoriasis 		disease Disease or Syndrome 5 4 0.010 None 1.000 1 2016 2016
CUI: C1536999
Disease: cancer angiogenesis
cancer angiogenesis 		phenotype Neoplastic Process 44 0.010 None 1.000 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2011 2011