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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 0 1
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0 1
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		disease Mental Disorders Mental or Behavioral Dysfunction 6 4 0.100 None 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C3843207
Disease: Sound sensitivity
Sound sensitivity 		phenotype Behavior and Behavior Mechanisms Finding 1 0.100 None 0
CUI: C4022171
Disease: Periauricular skin pits
Periauricular skin pits 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 1
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 0 1
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease Congenital Abnormality 62 34 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 141 14 0.100 None 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 50 14 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype Finding 12 3 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 47 1 0.100 None 0 1
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0