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: 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 20 1 1998 2020
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.500 definitive 1.000 10 1994 2015
CUI: C4523846
Disease: MSI-high
MSI-high 		disease Neoplastic Process 83 9 0.080 None 1.000 8 2 2006 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2019 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 2007 2014
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 1.000 1 1 2007 2007
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 2019 2019
CUI: C1263762
Disease: Endocervical adenocarcinoma
Endocervical adenocarcinoma 		disease Neoplastic Process 14 0.010 None 1.000 1 2018 2018
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 2019 2019
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2018 2018
CUI: C1299237
Disease: Endocervical Carcinoma
Endocervical Carcinoma 		disease Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 1 2007 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 1 1 2007 2007
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 1.000 1 1 2007 2007
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 2019 2019
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		disease Neoplastic Process 22 0.010 None 1.000 1 2017 2017
CUI: C4049272
Disease: Tumour budding
Tumour budding 		disease Neoplastic Process 71 8 0.010 None 1.000 1 2019 2019
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 1.000 1 1 2007 2007
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		disease Disease or Syndrome 6 8 0.010 None 1.000 1 2019 2019
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C1707251
Disease: Cancer Other
Cancer Other 		disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0