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: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		disease Disease or Syndrome 1 5 0.700 None 1.000 5 5 2013 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2011 2017
CUI: C0334139
Disease: Microglial nodules
Microglial nodules 		disease Acquired Abnormality 2 0.010 None 1.000 1 2004 2004
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2017 2017
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding) 		phenotype Mental or Behavioral Dysfunction 52 19 0.010 None 1.000 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C1707508
Disease: Conventional Dermatofibrosarcoma Protuberans
Conventional Dermatofibrosarcoma Protuberans 		disease Neoplastic Process 2 0.010 None 1.000 1 2001 2001
CUI: C1737225
Disease: Mesangioproliferative glomerulonephritis
Mesangioproliferative glomerulonephritis 		disease Disease or Syndrome 21 0.010 None 1.000 1 1999 1999
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2015 2015
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		disease Neoplastic Process 236 4 0.010 None 1.000 1 1996 1996
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2011 2011
CUI: C4707450
Disease: Ring chromosome 5 syndrome
Ring chromosome 5 syndrome 		disease Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C0240341
Disease: Micrographia
Micrographia 		phenotype Finding 14 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0270680
Disease: Posterior fossa compression syndrome
Posterior fossa compression syndrome 		disease Disease or Syndrome 7 0.100 None 0
CUI: C0476405
Disease: Lung function testing abnormal
Lung function testing abnormal 		phenotype Finding 6 0.100 None 0
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		phenotype Disease or Syndrome 39 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0
CUI: C1859273
Disease: Dense calcifications in the cerebellar dentate nucleus
Dense calcifications in the cerebellar dentate nucleus 		phenotype Finding 3 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C3551915
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO 		phenotype Finding 5 16 0.300 moderate 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		phenotype Finding 14 1 0.100 None 0