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: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 12 0.700 None 1.000 12 12 2000 2018
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 None 1.000 4 4 2015 2018
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		disease Disease or Syndrome 1 3 0.600 None 1.000 7 3 2008 2018
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 3 0.710 strong 1.000 4 3 2015 2019
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.510 None 1.000 2 2 2015 2017
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.140 None 1.000 4 1 2011 2018
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 1 2000 2008
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0 1
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 16 0.100 None 0 1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 56 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 1
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype Finding 20 19 0.100 None 0 1
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0 1
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 31 7 0.100 None 0 1
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0 1
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype Musculoskeletal Diseases Finding 74 5 0.100 None 0 1
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.100 None 0 1
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0 1
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0 1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0 1
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0 1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0 1
CUI: C4024603
Disease: Atrophy of quadriceps femoris muscle
Atrophy of quadriceps femoris muscle 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 3 1 0.100 None 0 1