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: 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: C1836326
Disease: Teratoid Tumor, Atypical
Teratoid Tumor, Atypical 		disease Neoplasms Neoplastic Process 1 0.320 definitive 1.000 10 1999 2013
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: C3553248
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		disease Disease or Syndrome 1 8 0.600 strong 1.000 5 8 2012 2015
CUI: C0025060
Disease: Mediastinal Cyst
Mediastinal Cyst 		disease Neoplasms; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C0238525
Disease: Sarcoma of vulva
Sarcoma of vulva 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C0855040
Disease: Epithelioid sarcoma non-metastatic
Epithelioid sarcoma non-metastatic 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2019 2019
CUI: C1333306
Disease: Distal-Type Epithelioid Sarcoma
Distal-Type Epithelioid Sarcoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2009 2009
CUI: C1709579
Disease: Pleural Synovial Sarcoma
Pleural Synovial Sarcoma 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2015 2015
CUI: C4016745
Disease: SCHWANNOMATOSIS 1, SOMATIC
SCHWANNOMATOSIS 1, SOMATIC 		disease Finding 1 1 0.100 None 0 1
CUI: C1321427
Disease: Epithelioid Malignant Peripheral Nerve Sheath Tumor
Epithelioid Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2 2 0.040 None 1.000 4 2012 2019
CUI: C1377665
Disease: Childhood Central Nervous System Neoplasm
Childhood Central Nervous System Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2 0.020 None 1.000 2 2005 2013
CUI: C1334358
Disease: Lacrimal Gland Carcinoma
Lacrimal Gland Carcinoma 		disease Neoplastic Process 2 0.010 None < 0.001 1 2019 2019
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: C4053528
Disease: Cribriform Neuroepithelial Tumor
Cribriform Neuroepithelial Tumor 		disease Neoplasms Neoplastic Process 3 0.070 None 1.000 7 2009 2019
CUI: C0280746
Disease: Sarcoma of ovary
Sarcoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C1333071
Disease: Chordoma of clivus
Chordoma of clivus 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 3 0.010 None 1.000 1 2020 2020
CUI: C1334620
Disease: Malignant Smooth Muscle Neoplasm
Malignant Smooth Muscle Neoplasm 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C1377678
Disease: Adult Central Nervous System Neoplasm
Adult Central Nervous System Neoplasm 		group Neoplasms; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C4048809
Disease: SCHWANNOMATOSIS 1
SCHWANNOMATOSIS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases Neoplastic Process 3 5 0.400 None 1.000 1 5 2014 2014
CUI: C1304517
Disease: Extrarenal rhabdoid tumor
Extrarenal rhabdoid tumor 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 4 0.030 None 1.000 3 2004 2019
CUI: C1336839
Disease: Type 1 Papillary Renal Cell Carcinoma
Type 1 Papillary Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 14 0.010 None 1.000 1 2016 2016
CUI: C1516865
Disease: Endometrial Undifferentiated Carcinoma
Endometrial Undifferentiated Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C2599768
Disease: Fractional shortening
Fractional shortening 		phenotype Finding 4 4 0.100 None 1.000 1 1 2018 2018
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