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: C0266610
Disease: Preauricular dimple
Preauricular dimple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 40 5 0.100 None 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype Finding 17 2 0.100 None 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		phenotype Finding 12 1 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype Finding 141 14 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		phenotype Finding 12 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		disease Anatomical Abnormality 67 2 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 16 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		phenotype Finding 53 4 0.100 None 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		phenotype Finding 9 0.100 None 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		phenotype Finding 12 1 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 30 5 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		phenotype Finding 6 0.100 None 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 7 0.100 None 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		phenotype Finding 14 3 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0