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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.080 None 1.000 8 1 2009 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.160 None 1.000 6 2 1998 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.060 None 1.000 6 2011 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		disease Neoplasms Neoplastic Process 504 42 0.060 None 1.000 6 1 2007 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.060 None 1.000 6 2005 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.060 None 1.000 6 2011 2019
CUI: C4518356
Disease: MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 33 0.040 None 1.000 4 2014 2019
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.030 None 1.000 3 2005 2019
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 12 11 0.310 None 1.000 2 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 2 2 2016 2019
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.120 None 1.000 2 1 2009 2019
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.010 None 1.000 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2019 2019
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 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 1 1 2019 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2019 2019
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 187 6 0.010 None 1.000 1 2019 2019
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting 		phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2019 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.110 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 2019 2019
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 160 6 0.010 None 1.000 1 2019 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 295 11 0.030 None 1.000 3 1 2016 2018
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.030 None 1.000 3 2015 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2018 2018