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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		phenotype Finding 14 0.100 None 0
CUI: C1398312
Disease: Narrow palate
Narrow palate 		phenotype Finding 40 5 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
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
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease Musculoskeletal Diseases Congenital Abnormality 49 3 0.100 None 0
CUI: C0424693
Disease: Broad skull
Broad skull 		phenotype Finding 3 0.100 None 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		phenotype Finding 13 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1842229
Disease: Broad metacarpals
Broad metacarpals 		phenotype Finding 12 0.100 None 0
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal 		phenotype Finding 7 0.100 None 0
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1865244
Disease: Shallow orbits
Shallow orbits 		phenotype Eye Diseases Finding 20 4 0.100 None 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		disease Musculoskeletal Diseases Anatomical Abnormality 35 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		phenotype Finding 22 2 0.100 None 0
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype Finding 18 0.100 None 0
CUI: C0264142
Disease: Spade-like hand
Spade-like hand 		disease Musculoskeletal Diseases Congenital Abnormality 24 0.100 None 0