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: C1838608
Disease: Radial aplasia
Radial aplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 1991 1991
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2018 2018
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.110 None 1.000 1 1 2000 2000
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.110 None 1.000 1 2016 2016
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0 1
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0 1
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0266614
Disease: Bat ear
Bat ear 		disease Congenital Abnormality 5 0.100 None 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0 1
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0 1
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype Finding 87 1 0.100 None 0 1
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0 1
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		disease Congenital Abnormality 7 2 0.100 None 0 1
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		phenotype Congenital Abnormality 57 3 0.100 None 0 1