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: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 134 14 0.100 None 1.000 1 1 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: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 1.000 1 8 2017 2017
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.100 None 1.000 1 1 2017 2017
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 62 9 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: 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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.100 None 1.000 1 1 2018 2018
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: 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: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 1.000 1 1 2017 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.100 None 1.000 1 1 2017 2017
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 1.000 1 1 2017 2017
CUI: C4021168
Disease: Slender toe
Slender toe 		phenotype Finding 6 2 0.100 None 1.000 1 1 2017 2017
CUI: C4021601
Disease: Premature eruption of permanent teeth
Premature eruption of permanent teeth 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		disease Anatomical Abnormality 7 4 0.100 None 1.000 1 2 2017 2017
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		phenotype Anatomical Abnormality 3 2 0.100 None 1.000 1 1 2017 2017
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 6 3 0.100 None 1.000 1 1 2017 2017
CUI: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue 		phenotype Finding 1 1 0.100 None 1.000 1 1 2017 2017
CUI: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 1 0.100 None 1.000 1 1 2017 2017
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		phenotype Behavior and Behavior Mechanisms Pathologic Function 2 3 0.100 None 1.000 1 1 2017 2017
CUI: C4025139
Disease: Fifth finger distal phalanx clinodactyly
Fifth finger distal phalanx clinodactyly 		disease Congenital Abnormality 2 1 0.100 None 1.000 1 1 2017 2017
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 166 122 0.100 None 1.000 1 3 2017 2017