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: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 0.800 definitive 0.979 48 1996 2018
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 24 0.710 None 1.000 19 21 1997 2018
CUI: C0006272
Disease: Bronchiolitis Obliterans
Bronchiolitis Obliterans 		disease Respiratory Tract Diseases Disease or Syndrome 93 5 0.100 None 1.000 11 1998 2018
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 10 0.710 None 1.000 7 8 1998 2018
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 0.540 None 1.000 6 1998 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.050 None 0.800 5 2013 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.800 5 2013 2017
CUI: C0546969
Disease: Preauricular Fistulae, Congenital
Preauricular Fistulae, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0.040 None 1.000 4 2001 2003
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.030 None 1.000 3 2000 2014
CUI: C1833691
Disease: Otofaciocervical Syndrome
Otofaciocervical Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.620 strong 1.000 3 1998 2006
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		disease Disease or Syndrome 16 10 0.420 None 1.000 3 3 1998 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.020 None 1.000 2 1994 2006
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 16 0.310 None 1.000 2 2000 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2019 2020
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		disease Disease or Syndrome 2 0.300 None 1.000 2 1998 2013
CUI: C4048228
Disease: Congenital anomaly of anterior segment of eye
Congenital anomaly of anterior segment of eye 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 9 0.020 None 1.000 2 2000 2014
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		disease Congenital Abnormality 35 3 0.020 None 1.000 2 2013 2017
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2014 2014
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None 1.000 1 2010 2010
CUI: C0006131
Disease: Branchioma
Branchioma 		disease Neoplasms Congenital Abnormality 10 0.110 None 1.000 1 2014 2014
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.010 None 1.000 1 1984 1984
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2018 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2014 2014
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2014 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.010 None 1.000 1 2011 2011