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: 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: 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 9 3 2007 2017
CUI: C0220666
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 15 3 0.740 strong 1.000 5 3 2014 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.130 None 1.000 5 2 2017 2020
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype Finding 12 15 0.100 None 1.000 2 2 2017 2020
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0 2
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0 2
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.100 None 0 2
CUI: C4021251
Disease: Dysplasia of the femoral head
Dysplasia of the femoral head 		phenotype Finding 3 2 0.100 None 0 2
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype Finding 19 13 0.100 None 0 2
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0 2
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
Spondylolisthesis at L5-S1 		phenotype Musculoskeletal Diseases Finding 2 3 0.100 None 0 2
CUI: C0026034
Disease: Microstomia
Microstomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 172 9 0.100 None 0 2
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0 2
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0 2
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease Musculoskeletal Diseases Disease or Syndrome 20 17 0.100 None 0 2
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		phenotype Musculoskeletal Diseases Finding 4 2 0.100 None 0 2
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0 2
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0 2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 2
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		phenotype Finding 11 2 0.100 None 0 2
CUI: C1851313
Disease: Limited shoulder movement
Limited shoulder movement 		phenotype Finding 5 2 0.100 None 0 2
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype Finding 10 2 0.100 None 0 2
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0 2