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.
Bone Fragility with Contractures, Arterial Rupture, and Deafness
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1 4 0.700 limited 1.000 3 4 2008 2019
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 1 2005 2005
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.110 None 1.000 1 2020 2020
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.100 None 1.000 1 1 2011 2011
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
Hypoplasia of the capital femoral epiphysis
phenotype Finding 11 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery
phenotype Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 26 1 0.100 None 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.100 None 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth
phenotype Anatomical Abnormality 122 14 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1864715
Disease: Thenar muscle atrophy
Thenar muscle atrophy
phenotype Finding 7 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
phenotype Finding 121 11 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases
phenotype Finding 6 4 0.100 None 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica
phenotype Finding 10 1 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0