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: C1332199
Disease: Adult Desmoplastic Small Round Cell Tumor
Adult Desmoplastic Small Round Cell Tumor 		disease Neoplasms Neoplastic Process 32 0.010 None 1.000 1 2015 2015
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.010 None 1.000 1 2016 2016
CUI: C0279545
Disease: Adult Epithelioid Sarcoma
Adult Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 33 0.100 None 0.957 23 2005 2019
CUI: C1706731
Disease: Adult Extraskeletal Myxoid Chondrosarcoma
Adult Extraskeletal Myxoid Chondrosarcoma 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2008 2008
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2014 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		disease Neoplasms Neoplastic Process 2528 98 0.030 None 1.000 3 2011 2014
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2015 2015
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.030 None 0.667 3 2000 2015
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.040 None 1.000 4 2003 2015
CUI: C0281332
Disease: Adult Pineoblastoma
Adult Pineoblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 13 0.010 None 1.000 1 2013 2013
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.020 None 1.000 2 1999 2018
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma 		disease Neoplasms Neoplastic Process 198 1 0.060 None 1.000 6 2016 2019
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 540 11 0.010 None 1.000 1 2000 2000
CUI: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 115 1 0.010 None < 0.001 1 2018 2018
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0 1
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C0338591
Disease: Amnesia, Transient Global
Amnesia, Transient Global 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 2 0.100 None 0
CUI: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.050 None 1.000 5 2014 2018
CUI: C0280788
Disease: Anaplastic Ependymoma
Anaplastic Ependymoma 		disease Neoplasms Neoplastic Process 28 1 0.010 None 1.000 1 2001 2001
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		phenotype Finding 6 0.100 None 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		disease Anatomical Abnormality 10 0.100 None 0