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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 12 2 2002 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 11 2003 2020
CUI: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		disease Disease or Syndrome 1 8 0.600 None 1.000 7 8 2006 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.070 None 1.000 7 2008 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.020 None 1.000 2 2014 2016
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.020 None 1.000 2 2012 2019
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.020 None 1.000 2 2012 2019
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 1 1 2008 2008
CUI: C0521858
Disease: Decreased drug resistance
Decreased drug resistance 		phenotype Disease or Syndrome 15 0.010 None 1.000 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		disease Neoplastic Process 110 1 0.010 None 1.000 1 2017 2017
CUI: C1658953
Disease: tumor vasculature
tumor vasculature 		phenotype Neoplastic Process 200 0.010 None 1.000 1 2006 2006
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2018 2018
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED 		disease Disease or Syndrome 35 0.010 None 1.000 1 2019 2019
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 103 0.010 None 1.000 1 2012 2012
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 42 7 0.010 None 1.000 1 2019 2019
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma 		disease Neoplastic Process 73 5 0.010 None 1.000 1 2012 2012
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		phenotype Pathologic Function 19 7 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 45 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0