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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0 1
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		phenotype Finding 10 0.100 None 0
CUI: C1849570
Disease: Progressive pulmonary function impairment
Progressive pulmonary function impairment 		phenotype Respiratory Tract Diseases Finding 6 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 107 1 0.100 None 0
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 62 0.100 None 0
CUI: C0040264
Disease: Tinnitus
Tinnitus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.100 None 0
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		phenotype Finding 104 13 0.100 None 0 1
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.100 None 0 1
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 3 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0 1
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings 		disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0 1
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		phenotype Finding 16 4 0.100 None 0 1
CUI: C0039070
Disease: Syncope
Syncope 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 119 45 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C0338591
Disease: Amnesia, Transient Global
Amnesia, Transient Global 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 16 2 0.100 None 0