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: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0 1
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
phenotype Finding 13 0.100 None 0
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 2 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 87 6 0.100 None 0
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
phenotype Finding 46 7 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0 1
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 75 1 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 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: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin
phenotype Finding 40 1 0.100 None 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 57 2 0.100 None 0 1
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C1832127
Disease: Square face
Square face
phenotype Finding 8 1 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 56 3 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype Finding 44 6 0.100 None 0