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 0.983 118 2 1996 2020
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 28 1995 2017
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.100 None 1.000 10 1998 2020
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.060 None 0.833 6 2011 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.040 None 1.000 4 1 2012 2016
CUI: C1112160
Disease: Gastrooesophageal cancer
Gastrooesophageal cancer 		disease Neoplastic Process 26 0.040 None 1.000 4 2011 2017
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.040 None 1.000 4 2003 2017
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		phenotype Finding 2 2 0.300 None 1.000 4 2 1976 2015
CUI: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		disease Neoplastic Process 78 7 0.030 None 1.000 3 2014 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.030 None 1.000 3 1 1998 2017
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		disease Neoplastic Process 245 9 0.030 None 1.000 3 2010 2018
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.020 None 1.000 2 2010 2017
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.020 None 1.000 2 2010 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2011 2017
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma 		disease Neoplastic Process 51 1 0.020 None 1.000 2 2016 2018
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.020 None 1.000 2 2010 2017
CUI: C4049272
Disease: Tumour budding
Tumour budding 		disease Neoplastic Process 71 8 0.020 None 1.000 2 2014 2016
CUI: C4084709
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 97
DEAFNESS, AUTOSOMAL RECESSIVE 97 		disease Disease or Syndrome 1 1 0.510 None 1.000 2 1 2015 2019
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination 		disease Neoplastic Process 170 0.020 None 1.000 2 1998 2017
CUI: C4684880
Disease: Advanced Bile Duct Carcinoma
Advanced Bile Duct Carcinoma 		disease Neoplastic Process 19 0.020 None 1.000 2 2016 2017
CUI: C4727070
Disease: Advanced Carcinoma
Advanced Carcinoma 		disease Neoplastic Process 15 0.020 None 1.000 2 2001 2013
CUI: C0238790
Disease: bone destruction
bone destruction 		disease Disease or Syndrome 234 3 0.010 None 1.000 1 2016 2016
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		disease Neoplastic Process 145 9 0.010 None 1.000 1 2017 2017
CUI: C0280253
Disease: stage, gastric cancer
stage, gastric cancer 		phenotype Neoplastic Process 34 0.010 None 1.000 1 2013 2013
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.010 None 1.000 1 2004 2004