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: C0014474
Disease: Ependymoma
Ependymoma 		disease Neoplasms Neoplastic Process 244 8 0.500 None 1.000 12 2014 2020
CUI: C4289581
Disease: RELA fusion-positive ependymoma
RELA fusion-positive ependymoma 		disease Neoplasms Neoplastic Process 6 0.300 None 1.000 1 2018 2018
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype Anatomical Abnormality 12 1 0.100 None 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.100 None 0
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0392699
Disease: Dysesthesia
Dysesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 3 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.100 None 0
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0037930
Disease: Spinal Cord Neoplasms
Spinal Cord Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 27 1 0.100 None 0
CUI: C0038874
Disease: Supratentorial Neoplasms
Supratentorial Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.100 None 0
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.100 None 0
CUI: C0796611
Disease: Newly Diagnosed Childhood Ependymoma
Newly Diagnosed Childhood Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.040 None 1.000 4 2014 2019
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma 		disease Neoplasms Neoplastic Process 144 3 0.040 None 1.000 4 2014 2019
CUI: C1851584
Disease: Childhood Ependymoma
Childhood Ependymoma 		disease Neoplasms Neoplastic Process 147 3 0.040 None 1.000 4 2014 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 2014 2018
CUI: C0278650
Disease: Childhood Supratentorial Ependymoma
Childhood Supratentorial Ependymoma 		disease Neoplasms Neoplastic Process 12 0.020 None 1.000 2 2014 2015
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.010 None 1.000 1 2015 2015
CUI: C1266131
Disease: Chondroid lipoma
Chondroid lipoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2010 2010
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2015 2015