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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.060 None 1.000 6 2 2010 2019
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		disease Disease or Syndrome 62 24 0.060 None 1.000 6 2009 2019
CUI: C3839184
Disease: Low grade serous carcinoma
Low grade serous carcinoma 		disease Neoplastic Process 11 3 0.060 None 1.000 6 3 2013 2019
CUI: C0346989
Disease: Secondary malignant neoplasm of peritoneum
Secondary malignant neoplasm of peritoneum 		disease Neoplastic Process 58 2 0.050 None 1.000 5 2 2014 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 2 2003 2013
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		disease Disease or Syndrome 1 8 0.700 None 1.000 5 8 2006 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 4 6 2006 2009
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.040 None 1.000 4 2 2005 2018
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION 		phenotype Disease or Syndrome 222 3 0.040 None 1.000 4 2 2012 2015
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		disease Disease or Syndrome 1 5 0.700 None 1.000 4 5 2006 2013
CUI: C0741899
Disease: Poorly differentiated carcinoma
Poorly differentiated carcinoma 		phenotype Neoplastic Process 64 2 0.030 None 1.000 3 1 2006 2017
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration 		disease Disease or Syndrome 84 2 0.030 None 1.000 3 2 2004 2014
CUI: C1334243
Disease: Intracranial Melanoma
Intracranial Melanoma 		disease Neoplastic Process 4 2 0.030 None 1.000 3 2 2015 2019
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 3 4 2006 2008
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		disease Neoplastic Process 50 2 0.030 None 1.000 3 2007 2008
CUI: C3472623
Disease: Serrated adenocarcinoma
Serrated adenocarcinoma 		disease Neoplastic Process 11 2 0.030 None 1.000 3 2 2011 2019
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 103 0.030 None 1.000 3 2014 2018
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.030 None 1.000 3 2013 2019
CUI: C3896673
Disease: Familial Nonmedullary Thyroid Gland Carcinoma
Familial Nonmedullary Thyroid Gland Carcinoma 		disease Neoplastic Process 31 6 0.030 None 0.667 3 2 2005 2012
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma 		disease Neoplastic Process 10 2 0.030 None 0.667 3 2 2012 2016
CUI: C4049272
Disease: Tumour budding
Tumour budding 		disease Neoplastic Process 71 8 0.030 None 1.000 3 2012 2019
CUI: C0334431
Disease: Melanocytoma
Melanocytoma 		disease Neoplastic Process 18 3 0.020 None 1.000 2 2 2013 2018
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 1.000 2 2 2006 2006
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 1.000 2 1 2006 2006
CUI: C0919645
Disease: Tumour ulceration
Tumour ulceration 		disease Neoplastic Process 7 2 0.020 None 1.000 2 2 2014 2016