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 0.100 None 1.000 13 2005 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.060 None 1.000 6 2013 2019
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.060 None 1.000 6 2013 2019
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.060 None 1.000 6 2013 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.040 None 0.750 4 2006 2017
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.040 None 1.000 4 2010 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2008 2018
CUI: C3150773
Disease: CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 		disease Disease or Syndrome 17 0.020 None 1.000 2 2006 2007
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2008 2008
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2008 2008
CUI: C0279942
Disease: Metastatic Childhood Soft Tissue Sarcoma
Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 4 2013 2013
CUI: C0542080
Disease: Marrow hypercellular
Marrow hypercellular 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0544799
Disease: Histiocytosis, generalized eruptive
Histiocytosis, generalized eruptive 		disease Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C0948384
Disease: Cerebral hygroma
Cerebral hygroma 		disease Neoplastic Process 1 0.010 None 1.000 1 2004 2004
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration 		disease Disease or Syndrome 84 2 0.010 None 1.000 1 2009 2009
CUI: C1291311
Disease: Deficiency of dehydrogenase
Deficiency of dehydrogenase 		disease Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2012 2012
CUI: C1332213
Disease: Adult T Lymphoblastic Lymphoma
Adult T Lymphoblastic Lymphoma 		disease Neoplastic Process 21 0.010 None 1.000 1 2018 2018
CUI: C1332998
Disease: Childhood T Lymphoblastic Lymphoma
Childhood T Lymphoblastic Lymphoma 		disease Neoplastic Process 21 0.010 None 1.000 1 2018 2018
CUI: C1334363
Disease: Lung Large Cell Neuroendocrine Carcinoma
Lung Large Cell Neuroendocrine Carcinoma 		disease Neoplastic Process 11 0.010 None 1.000 1 2013 2013
CUI: C1334378
Disease: Laryngeal Small Cell Carcinoma
Laryngeal Small Cell Carcinoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		disease Neoplastic Process 65 4 0.010 None 1.000 1 2015 2015
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None 1.000 1 2016 2016
CUI: C1541567
Disease: Adult Oligodendroglial Tumor
Adult Oligodendroglial Tumor 		disease Neoplastic Process 14 2 0.010 None 1.000 1 2016 2016