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: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.030 None 1.000 3 2018 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2007 2007
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2019 2019
CUI: C0027401
Disease: Narcissism
Narcissism 		phenotype Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2018 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 2 2018 2018
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2017 2017
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None 1.000 1 2014 2014
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.010 None 1.000 1 2017 2017
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		phenotype Sign or Symptom 86 21 0.010 None 1.000 1 2010 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2007 2007
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		phenotype Clinical Attribute 35 61 0.100 None 1.000 1 1 2018 2018
CUI: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia 		disease Neoplastic Process 37 0.010 None 1.000 1 2014 2014
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2017 2017
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2017 2017
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype Congenital Abnormality 38 10 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 0.100 None 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0