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: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.010 None 1.000 1 2011 2011
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.020 None 1.000 2 2019 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2020 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.946 74 2001 2020
CUI: C0206657
Disease: Alveolar Soft Part Sarcoma
Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 61 0.400 None 1.000 48 2001 2020
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.100 None 0.964 28 2008 2019
CUI: C0279544
Disease: Adult Alveolar Soft Part Sarcoma
Adult Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.100 None 1.000 20 2001 2020
CUI: C0279985
Disease: Childhood Alveolar Soft Part Sarcoma
Childhood Alveolar Soft Part Sarcoma 		disease Neoplasms Neoplastic Process 30 0.100 None 1.000 20 2001 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.867 15 2001 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.100 None 0.917 12 2002 2017
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
Epithelioid hemangioendothelioma 		disease Neoplasms Neoplastic Process 36 4 0.400 None 0.909 11 2013 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.909 11 2001 2019
CUI: C0334538
Disease: Epithelioid hemangioendothelioma, malignant
Epithelioid hemangioendothelioma, malignant 		disease Neoplasms Neoplastic Process 29 0.080 None 0.875 8 2013 2020
CUI: C3899665
Disease: Childhood Epithelioid Hemangioendothelioma
Childhood Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.060 None 0.833 6 2013 2020
CUI: C3900104
Disease: Adult Epithelioid Hemangioendothelioma
Adult Epithelioid Hemangioendothelioma 		disease Neoplasms Neoplastic Process 26 0.060 None 0.833 6 2013 2020
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.050 None 1.000 5 2001 2019
CUI: C1334699
Disease: Mesenchymal Cell Neoplasm
Mesenchymal Cell Neoplasm 		disease Neoplasms Neoplastic Process 55 0.030 None 1.000 3 2017 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.030 None 1.000 3 2001 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.020 None 1.000 2 2017 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2009 2019
CUI: C0085167
Disease: Granular cell tumor
Granular cell tumor 		disease Neoplasms Neoplastic Process 19 0.020 None 1.000 2 2012 2019
CUI: C3839062
Disease: Perivascular epithelioid tumor, malignant
Perivascular epithelioid tumor, malignant 		disease Neoplasms Neoplastic Process 1 0.020 None 1.000 2 2016 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2009 2019
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.010 None < 0.001 1 2014 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		disease Neoplasms Neoplastic Process 162 7 0.010 None 1.000 1 2014 2014