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: C0206743
Disease: Rhabdoid Tumor
Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 103 0.700 definitive 0.974 155 1999 2019
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 84 1 0.800 definitive 0.938 65 1999 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 18 2 0.800 strong 0.957 47 2 2007 2019
CUI: C0205944
Disease: Sarcoma, Epithelioid
Sarcoma, Epithelioid 		disease Neoplasms Neoplastic Process 66 0.100 None 0.967 30 2005 2019
CUI: C2347613
Disease: Childhood Atypical Teratoid/Rhabdoid Tumor
Childhood Atypical Teratoid/Rhabdoid Tumor 		disease Neoplastic Process 28 0.100 None 0.897 29 2003 2019
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		disease Neoplasms Neoplastic Process 193 11 0.200 None 1.000 27 3 1999 2019
CUI: C0279545
Disease: Adult Epithelioid Sarcoma
Adult Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 33 0.100 None 0.957 23 2005 2019
CUI: C0279989
Disease: Childhood Epithelioid Sarcoma
Childhood Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 33 0.100 None 0.957 23 2005 2019
CUI: C1836327
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Neoplastic Process 1 14 0.720 definitive 1.000 20 14 1999 2018
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.100 None 0.812 16 2014 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 15 2005 2018
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.500 None 1.000 14 1999 2019
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 49 0.100 None 0.857 14 2001 2019
CUI: C0008487
Disease: Chordoma
Chordoma 		disease Neoplasms Neoplastic Process 140 3 0.100 None 1.000 12 2010 2020
CUI: C2985524
Disease: Rhabdoid tumor predisposition syndrome
Rhabdoid tumor predisposition syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 3 0.400 None 1.000 12 1999 2018
CUI: C1836326
Disease: Teratoid Tumor, Atypical
Teratoid Tumor, Atypical 		disease Neoplasms Neoplastic Process 1 0.320 definitive 1.000 10 1999 2013
CUI: C4049328
Disease: Renal medullary carcinoma
Renal medullary carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 0.100 None 1.000 10 2012 2019
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		disease Neoplasms Neoplastic Process 299 4 0.090 None 1.000 9 2015 2019
CUI: C2750405
Disease: Malignant Rhabdoid Tumor, Somatic
Malignant Rhabdoid Tumor, Somatic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.600 definitive 1.000 8 1 1999 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.070 None 1.000 7 2014 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.570 None 1.000 7 1 2012 2019
CUI: C1710095
Disease: paranasal sinus and nasal cavity cancer
paranasal sinus and nasal cavity cancer 		disease Neoplasms Neoplastic Process 12 0.070 None 0.857 7 2016 2019
CUI: C4053528
Disease: Cribriform Neuroepithelial Tumor
Cribriform Neuroepithelial Tumor 		disease Neoplasms Neoplastic Process 3 0.070 None 1.000 7 2009 2019
CUI: C0205834
Disease: Meningiomas, Multiple
Meningiomas, Multiple 		disease Neoplasms; Nervous System Diseases Neoplastic Process 17 0.060 None 1.000 6 2010 2018
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.060 None 1.000 6 2016 2019