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: C0423823
Disease: Thin nails
Thin nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 1 0.100 None 0 1
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		phenotype Finding 10 3 0.100 None 0 1
CUI: C4021959
Disease: Round ear
Round ear 		disease Anatomical Abnormality 10 4 0.100 None 0 1
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		phenotype Finding 11 2 0.100 None 0 1
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		phenotype Finding 11 0.100 None 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		phenotype Finding 12 1 0.100 None 0 1
CUI: C4281771
Disease: Thin eyebrow
Thin eyebrow 		phenotype Finding 12 0.100 None 0
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2017 2017
CUI: C0520571
Disease: Fibrosis of bile duct
Fibrosis of bile duct 		disease Digestive System Diseases Disease or Syndrome 13 0.010 None 1.000 1 2015 2015
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype Finding 13 4 0.100 None 0 1
CUI: C0221261
Disease: Koilonychia
Koilonychia 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 14 0.100 None 0
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.690 None 1.000 10 2 1995 2015
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		phenotype Finding 17 0.100 None 0
CUI: C1849221
Disease: Fair hair
Fair hair 		phenotype Finding 17 5 0.100 None 0 1
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		disease Congenital Abnormality 18 3 0.100 None 0 1
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0 1
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.100 None 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		phenotype Finding 20 0.100 None 0
CUI: C1857482
Disease: Slender finger
Slender finger 		phenotype Finding 20 5 0.100 None 0 1
CUI: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		phenotype Finding 20 0.100 None 0
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.010 None 1.000 1 2016 2016
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 27 17 0.100 None 0 1
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 0.100 None 0