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.
Paroxysmal Nonkinesigenic Dyskinesia 1
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 42 6 1.000 None 0.923 13 3 1997 2018
Paroxysmal nonkinesigenic dyskinesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 5 0.690 None 0.889 9 3 1997 2018
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 223 3 0.300 None 1.000 1 2015 2015
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2015 2015
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 1 2015 2015
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.300 None 1.000 1 2015 2015
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.300 None 1.000 1 2015 2015
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.300 None 1.000 1 2015 2015
CUI: C1719382
Disease: Acquired torsion dystonia
Acquired torsion dystonia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.200 None 0
CUI: C0477360
Disease: Other dystonia
Other dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.200 None 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.170 None 1.000 7 1999 2019
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 15 3 0.130 None 1.000 3 1 1997 2015
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.110 None 1.000 1 1 1999 1999
Malignant neoplasm of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 173 375 0.100 None 1.000 4 3 2018 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 4 3 2018 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.100 None 1.000 4 3 2018 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 4 3 2018 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.100 None 1.000 4 3 2018 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
disease Finding 166 374 0.100 None 1.000 4 3 2018 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
disease Finding 166 370 0.100 None 1.000 4 3 2018 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 4 3 2018 2019
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
disease Finding 166 373 0.100 None 1.000 4 3 2018 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 2 2 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 2 2 2019 2019
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 2 2 2016 2017