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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.110 None 1.000 19 1 1995 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 4 4 2017 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 2 2 2016 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 1.000 1 1 2017 2017
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 1.000 1 2 2017 2017
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 1.000 1 2 2017 2017
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 1.000 1 1 2017 2017
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		phenotype Disease or Syndrome 30 25 0.100 None 1.000 1 8 2017 2017
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		phenotype Finding 56 98 0.100 None 1.000 1 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 8 2017 2017
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 1.000 1 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1335729
Disease: Refractory Neoplasm
Refractory Neoplasm 		disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 79 8 0.100 None 1.000 1 2 2017 2017
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype Finding 28 13 0.100 None 1.000 1 1 2017 2017
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype Finding 130 50 0.100 None 1.000 1 1 2017 2017
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		phenotype Finding 2 2 0.100 None 1.000 1 2 2017 2017
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype Finding 145 10 0.100 None 1.000 1 1 2017 2017
CUI: C1839798
Disease: Long nose
Long nose 		phenotype Finding 29 2 0.100 None 1.000 1 2 2017 2017
CUI: C1840069
Disease: Sandal gap
Sandal gap 		phenotype Finding 62 6 0.100 None 1.000 1 1 2017 2017
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 1.000 1 1 2017 2017