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: C0270149
Disease: Perinatal respiratory distress
Perinatal respiratory distress 		disease Disease or Syndrome 1 0.020 None 1.000 2 2016 2017
CUI: C4310692
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 		disease Disease or Syndrome 1 11 0.600 None 1.000 2 11 2016 2017
CUI: C0423729
Disease: Chest pain on breathing
Chest pain on breathing 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C1112616
Disease: Loss of proprioception
Loss of proprioception 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2016 2016
CUI: C0232066
Disease: Induced apnea
Induced apnea 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1850656
Disease: Firm muscles
Firm muscles 		phenotype Finding 2 0.100 None 0
CUI: C1855353
Disease: Fixed facial expression
Fixed facial expression 		phenotype Finding 2 0.100 None 0
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
Spondylolisthesis at L5-S1 		phenotype Musculoskeletal Diseases Finding 2 3 0.100 None 0 2
CUI: C1862474
Disease: Decreased facial expression
Decreased facial expression 		phenotype Finding 3 0.100 None 0
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		phenotype Finding 3 0.100 None 0
CUI: C4021251
Disease: Dysplasia of the femoral head
Dysplasia of the femoral head 		phenotype Finding 3 2 0.100 None 0 2
CUI: C1862472
Disease: Oculomelic amyoplasia
Oculomelic amyoplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 11 0.750 strong 1.000 5 11 2013 2019
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		phenotype Musculoskeletal Diseases Finding 4 2 0.100 None 0 2
CUI: C0036686
Disease: Gram positive sepsis
Gram positive sepsis 		group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 5 1 0.010 None 1.000 1 2017 2017
CUI: C0410740
Disease: Acquired deformity of finger
Acquired deformity of finger 		disease Musculoskeletal Diseases Acquired Abnormality 5 0.100 None 0
CUI: C1393871
Disease: Congenital finger flexion contractures
Congenital finger flexion contractures 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C1836589
Disease: Decreased hip abduction
Decreased hip abduction 		phenotype Finding 5 0.100 None 0
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement 		phenotype Finding 5 2 0.100 None 0 2
CUI: C1855350
Disease: Inferior vermis hypoplasia
Inferior vermis hypoplasia 		phenotype Finding 5 0.100 None 0
CUI: C1862481
Disease: Limited wrist extension
Limited wrist extension 		phenotype Finding 5 0.100 None 0
CUI: C1857483
Disease: Decreased palmar creases
Decreased palmar creases 		phenotype Finding 6 4 0.100 None 0
CUI: C4025712
Disease: Abnormality of the cerebellar vermis
Abnormality of the cerebellar vermis 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C0796033
Disease: MARDEN-WALKER SYNDROME
MARDEN-WALKER SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 8 2 0.740 None 1.000 4 1 2014 2019
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.100 None 0 2
CUI: C3887531
Disease: Keratoglobus
Keratoglobus 		disease Anatomical Abnormality 9 0.100 None 0