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 0.933 15 1 2008 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 5 2011 2019
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination
disease Neoplastic Process 170 0.020 None 1.000 2 2016 2017
CUI: C0239399
Disease: Short extremities
Short extremities
phenotype Congenital Abnormality 38 10 0.010 None 1.000 1 2009 2009
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma
disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C0549393
Disease: Alcohol problem
Alcohol problem
phenotype Mental or Behavioral Dysfunction 23 5 0.010 None 1.000 1 2009 2009
CUI: C1096285
Disease: Arterial fibrosis
Arterial fibrosis
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.010 None 1.000 1 2016 2016
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.010 None 1.000 1 2019 2019
CUI: C4721779
Disease: Ovarian cancer stage IV
Ovarian cancer stage IV
disease Neoplastic Process 51 0.010 None 1.000 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2017 2017
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
disease Disease or Syndrome 7 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C1397139
Disease: Calcification of falx cerebri
Calcification of falx cerebri
disease Disease or Syndrome 6 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
phenotype Finding 66 7 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping
phenotype Finding 5 0.100 None 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals
phenotype Finding 12 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0