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 1996 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 15 2 2006 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 14 2003 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 3 1 2007 2011
CUI: C0348872
Disease: Disorders of both mitral and tricuspid valves
Disorders of both mitral and tricuspid valves 		disease Disease or Syndrome 1 1 0.100 None 1.000 2 1 2007 2007
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 1.000 2 1 2007 2007
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 1.000 2 1 2007 2007
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 13 12 0.120 None 1.000 2 2010 2012
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		disease Neoplastic Process 65 4 0.020 None 1.000 2 2006 2009
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 2 1 2010 2013
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 42 7 0.020 None 0.500 2 2019 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.010 None 1.000 1 2018 2018
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.010 None 1.000 1 2018 2018
CUI: C0238790
Disease: bone destruction
bone destruction 		disease Disease or Syndrome 234 3 0.010 None 1.000 1 2020 2020
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2019 2019
CUI: C0346398
Disease: Mixed follicular and papillary thyroid carcinoma
Mixed follicular and papillary thyroid carcinoma 		disease Neoplastic Process 31 8 0.010 None 1.000 1 2010 2010
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.010 None < 0.001 1 2019 2019
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2007 2007
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None 1.000 1 2019 2019
CUI: C3854501
Disease: Neonatal testicular torsion
Neonatal testicular torsion 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C3896673
Disease: Familial Nonmedullary Thyroid Gland Carcinoma
Familial Nonmedullary Thyroid Gland Carcinoma 		disease Neoplastic Process 31 6 0.010 None 1.000 1 2012 2012
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.010 None 1.000 1 2018 2018
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		disease Disease or Syndrome 1 9 0.600 None 1.000 1 9 2014 2014