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: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2009 2009
CUI: C1857652
Disease: Thymic hormone decreased
Thymic hormone decreased 		phenotype Finding 1 0.100 None 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 2 2012 2012
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		phenotype Finding 2 0.100 None 0
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		phenotype Finding 3 0.100 None 0
CUI: C4523967
Disease: Fracture infection
Fracture infection 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1857645
Disease: Slender nose
Slender nose 		phenotype Finding 4 0.100 None 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		phenotype Finding 4 0.100 None 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		phenotype Finding 4 0.100 None 0
CUI: C0156409
Disease: Postmenopausal atrophic vaginitis
Postmenopausal atrophic vaginitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C0221392
Disease: Atrophic Vaginitis
Atrophic Vaginitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C1313952
Disease: Respiration intermittent
Respiration intermittent 		phenotype Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Finding 6 1 0.100 None 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		phenotype Finding 6 0.100 None 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 7 5 0.100 None 0 1
CUI: C3203533
Disease: Psychological Trauma
Psychological Trauma 		disease Mental Disorders Mental or Behavioral Dysfunction 8 0.010 None 1.000 1 2017 2017
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		phenotype Anatomical Abnormality 8 1 0.100 None 0 1
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		phenotype Pathological Conditions, Signs and Symptoms Finding 9 3 0.100 None 0
CUI: C3887547
Disease: Central sleep apnea syndrome
Central sleep apnea syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		phenotype Finding 11 2 0.100 None 0
CUI: C0277960
Disease: Dry hair
Dry hair 		phenotype Finding 12 2 0.100 None 0 1
CUI: C0235357
Disease: Hypoplasia of teeth
Hypoplasia of teeth 		disease Digestive System Diseases; Stomatognathic Diseases Congenital Abnormality 14 0.100 None 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		phenotype Finding 14 2 0.100 None 0