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 14 2005 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 8 9 2011 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 5 7 2012 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.040 None 1.000 4 2016 2019
CUI: C1518736
Disease: Ovarian Small Cell Carcinoma, Hypercalcemic Type
Ovarian Small Cell Carcinoma, Hypercalcemic Type 		disease Neoplastic Process 9 0.030 None 1.000 3 2014 2017
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 2 2 2012 2013
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.300 limited 1.000 2 2015 2016
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		disease Neoplastic Process 50 2 0.020 None 1.000 2 2012 2014
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.020 None 1.000 2 2018 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2019 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 4 2012 2012
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		group Laboratory Procedure 27 53 0.100 None 1.000 1 1 2012 2012
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2019 2019
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.010 None 1.000 1 2015 2015
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2013 2013
CUI: C2347613
Disease: Childhood Atypical Teratoid/Rhabdoid Tumor
Childhood Atypical Teratoid/Rhabdoid Tumor 		disease Neoplastic Process 28 0.010 None 1.000 1 2018 2018
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		disease Disease or Syndrome 1 13 0.600 strong 1.000 1 13 2012 2012
CUI: C3839982
Disease: Small cell carcinoma, hypercalcemic type
Small cell carcinoma, hypercalcemic type 		disease Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0