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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 9 1 1996 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 9 1 1996 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 3 1996 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2015 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2015 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2010 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.320 None 1.000 3 2017 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.030 None 1.000 3 2017 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.030 None 1.000 3 2017 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2004 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.030 None 1.000 3 2018 2018
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		disease Disease or Syndrome 1 13 0.700 None 1.000 2 13 2016 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.020 None 1.000 2 2005 2019
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 0.420 None 1.000 2 2016 2019
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.020 None 1.000 2 2015 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 1 2003 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.020 None 0.500 2 2006 2017
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 2004 2004
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		disease Neoplasms Neoplastic Process 122 0.300 None 1.000 1 2009 2009
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2019 2019
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.010 None 1.000 1 2018 2018
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		disease Neoplasms Neoplastic Process 143 6 0.010 None 1.000 1 2019 2019
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 49 0.010 None 1.000 1 2005 2005
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2019 2019