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 0.030 None 1.000 3 2004 2019
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 2 6 2010 2017
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		phenotype Laboratory Procedure 62 522 0.100 None 1.000 2 6 2010 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1994 1995
CUI: C3495893
Disease: Congenital thrombophilia
Congenital thrombophilia 		disease Disease or Syndrome 3 1 0.020 None 1.000 2 1995 2011
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2004 2004
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		group Disease or Syndrome 188 9 0.010 None 1.000 1 2015 2015
CUI: C0339499
Disease: Central retinal vein occlusion - juvenile
Central retinal vein occlusion - juvenile 		disease Acquired Abnormality 2 0.010 None 1.000 1 1998 1998
CUI: C0341426
Disease: Small intestinal infarction
Small intestinal infarction 		disease Disease or Syndrome 2 0.010 None 1.000 1 1997 1997
CUI: C0584984
Disease: Heterozygous Factor V Leiden mutation
Heterozygous Factor V Leiden mutation 		disease Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2015 2015
CUI: C0866188
Disease: Renal thrombosis
Renal thrombosis 		disease Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C1856143
Disease: HEMOLYTIC UREMIC SYNDROME, TYPICAL
HEMOLYTIC UREMIC SYNDROME, TYPICAL 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 2019 2019
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.010 None 1.000 1 2017 2017
CUI: C2585960
Disease: Heterozygous protein C deficiency
Heterozygous protein C deficiency 		disease Disease or Syndrome 1 2 0.010 None 1.000 1 2 2009 2009
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 2 2018 2018
CUI: C3164780
Disease: Clinical sepsis
Clinical sepsis 		phenotype Disease or Syndrome 5 0.010 None 1.000 1 2007 2007
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		disease Anatomical Abnormality 13 1 0.100 None 1.000 1 1 2019 2019
CUI: C4324563
Disease: Neutrophil extracellular trap formation
Neutrophil extracellular trap formation 		disease Disease or Syndrome 55 0.010 None 1.000 1 2017 2017
CUI: C4708643
Disease: Acroangiodermatitis of skin
Acroangiodermatitis of skin 		disease Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0