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: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.400 strong 1.000 1 2009 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.380 None 1.000 10 2006 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.380 None 1.000 9 3 2010 2019
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.370 strong 1.000 9 2012 2019
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19 0.360 None 1.000 6 2007 2016
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 468 81 0.350 None 1.000 6 2006 2017
CUI: C0153601
Disease: Malignant neoplasm of penis
Malignant neoplasm of penis
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 39 3 0.330 None 1.000 4 2008 2018
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell
disease Neoplasms Neoplastic Process 123 0.320 None 1.000 3 2012 2018
Malformations of Cortical Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.320 None 1.000 3 2012 2018
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.320 None 1.000 2 2016 2018
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.320 None 1.000 2 2007 2010
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.310 None 1.000 2 2012 2017
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.310 None 1.000 2 2013 2018
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome 89 8 0.310 None 1.000 1 2013 2013
CUI: C2985290
Disease: Fetal Alcohol Spectrum Disorders
Fetal Alcohol Spectrum Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders Disease or Syndrome; Congenital Abnormality 46 2 0.310 None 1.000 1 2013 2013
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 8 2009 2015
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 8 2009 2015
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2012 2012
CUI: C0020507
Disease: Hyperplasia
Hyperplasia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 2012 2012
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 140 0.300 None 1.000 1 2013 2013
CUI: C0030849
Disease: Penile Neoplasms
Penile Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 6 0.300 None 1.000 1 2008 2008
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2008 2008
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2012 2012
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform
disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2012 2012
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2012 2012