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: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2007 2007
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		group Disease or Syndrome 26 1 0.010 None 1.000 1 2013 2013
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		disease Neoplastic Process 32 2 0.010 None 1.000 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: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.010 None 1.000 1 2011 2011
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		disease Neoplastic Process 110 1 0.010 None 1.000 1 2018 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2005 2005
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		disease Neoplastic Process 190 5 0.010 None 1.000 1 2005 2005
CUI: C1704376
Disease: Uterine Corpus Carcinosarcoma
Uterine Corpus Carcinosarcoma 		disease Neoplastic Process 33 0.010 None 1.000 1 2019 2019
CUI: C1708747
Disease: Low grade appendiceal mucinous neoplasm
Low grade appendiceal mucinous neoplasm 		disease Neoplastic Process 5 0.010 None 1.000 1 2019 2019
CUI: C1838608
Disease: Radial aplasia
Radial aplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 1999 1999
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 2005 2005
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2012 2012
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.010 None 1.000 1 2016 2016
CUI: C4023418
Disease: Unicoronal synostosis
Unicoronal synostosis 		disease Anatomical Abnormality 5 1 0.010 None 1.000 1 2009 2009
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.010 None 1.000 1 2017 2017
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma 		disease Neoplastic Process 18 0.010 None 1.000 1 2018 2018
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2019 2019
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		phenotype Finding 41 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0