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: C0677055
Disease: CARCINOMA OF VULVA
CARCINOMA OF VULVA 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 72 2 0.010 None 1.000 1 2006 2006
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2003 2003
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 50 67 0.010 None 1.000 1 2010 2010
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 1990 1990
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 130 4 0.010 None 1.000 1 2004 2004
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2018 2018
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 118 12 0.010 None 1.000 1 2012 2012
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 120 1 0.010 None 1.000 1 2012 2012
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease Neoplastic Process 350 19 0.010 None 1.000 1 2006 2006
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 34 2 0.010 None 1.000 1 2003 2003
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 43 9 0.010 None 1.000 1 2002 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 1998 1998
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2018 2018
CUI: C1368683
Disease: Epithelioma
Epithelioma 		disease Neoplasms Neoplastic Process 326 2 0.010 None 1.000 1 2016 2016
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.010 None 1.000 1 2013 2013
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2012 2012
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 1998 1998
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		disease Neoplasms Neoplastic Process 193 12 0.010 None 1.000 1 2014 2014
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		disease Infections Disease or Syndrome 337 56 0.010 None < 0.001 1 2009 2009
CUI: C0853954
Disease: Corneal calcification
Corneal calcification 		phenotype Anatomical Abnormality 10 0.010 None 1.000 1 2017 2017
CUI: C0919909
Disease: Tonic clonic movements
Tonic clonic movements 		disease Disease or Syndrome 22 0.010 None 1.000 1 2016 2016
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.010 None 1.000 1 2017 2017
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2005 2005
CUI: C1301363
Disease: Blastic plasmacytoid dendritic cell neoplasm
Blastic plasmacytoid dendritic cell neoplasm 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 46 2 0.010 None 1.000 1 2001 2001
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2003 2003