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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1858091
Disease: Long fingers
Long fingers
phenotype Finding 32 6 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge
phenotype Finding 39 2 0.100 None 0
CUI: C1857485
Disease: Flat forehead
Flat forehead
phenotype Finding 11 0.100 None 0
CUI: C0015300
Disease: Exophthalmos
Exophthalmos
disease Eye Diseases Disease or Syndrome 225 12 0.100 None 0
CUI: C1857479
Disease: Short columella
Short columella
phenotype Finding 20 5 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 180 8 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
phenotype Finding 53 1 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck
phenotype Finding 22 10 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0 1
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux
phenotype Finding 6 0.100 None 0
CUI: C1867131
Disease: Broad hallux
Broad hallux
phenotype Finding 48 14 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype Finding 71 5 0.100 None 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
phenotype Eye Diseases Finding 20 4 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid
phenotype Disease or Syndrome 6 0.100 None 0
CUI: C1863382
Disease: Absent first metatarsal
Absent first metatarsal
phenotype Finding 2 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C1861921
Disease: Cutaneous syndactyly
Cutaneous syndactyly
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 17 1 0.100 None 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
phenotype Finding 53 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum
phenotype Finding 182 25 0.100 None 0