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: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 2 2 2018 2019
CUI: C0023980
Disease: Longevity
Longevity
phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2014 2014
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.100 None 1.000 1 1 2017 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 187 23 0.100 None 1.000 1 1 2017 2017
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 8 0.100 None 0
CUI: C1862052
Disease: Gustatory lacrimation
Gustatory lacrimation
phenotype Finding 2 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
Obstruction of pelviureteric junction
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 14 2 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea
phenotype Finding 7 0.100 None 0
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal
phenotype Finding 7 2 0.100 None 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
CUI: C0302859
Disease: Euthyroid Goiter
Euthyroid Goiter
disease Endocrine System Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
Atresia of the external auditory canal
disease Anatomical Abnormality 44 3 0.100 None 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal
disease Disease or Syndrome 25 4 0.100 None 0
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 103 4 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear
phenotype Finding 152 6 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 45 7 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0