Source: CURATED ×
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: C4748257
Disease: BONE MARROW FAILURE SYNDROME 4
BONE MARROW FAILURE SYNDROME 4 		disease Disease or Syndrome 1 2 0.600 moderate 1.000 3 2 2013 2017
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 18 5 0.400 strong 1.000 1 2015 2015
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 26 9 0.310 strong 1.000 1 2015 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 23 7 0.300 strong 1.000 1 2015 2015
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 1 12 0.300 strong 1.000 1 2015 2015
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 7 24 0.300 strong 1.000 1 2015 2015