Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1861217
Disease: Small foramen magnum
Small foramen magnum 		3 0 2 0.40 0 0
CUI: C0152091
Disease: Osteochondropathy
Osteochondropathy 		1 0 1 0.25 0 0
CUI: C0265669
Disease: Congenital dislocation of knee
Congenital dislocation of knee 		1 0 1 0.25 0 0
CUI: C0432125
Disease: Bicoronal craniosynostosis
Bicoronal craniosynostosis 		1 0 1 0.25 0 0
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		1 0 1 0.25 0 0
CUI: C0478074
Disease: Other congenital malformations of spine, not associated with scoliosis
Other congenital malformations of spine, not associated with scoliosis 		1 0 1 0.25 0 0
CUI: C0854486
Disease: Secretory adenoma of pituitary
Secretory adenoma of pituitary 		1 0 1 0.25 0 0
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 4 1 0.25 1 0.25
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 1 1 0.25 1 1.00
CUI: C1859458
Disease: Cleft vertebral arch
Cleft vertebral arch 		1 0 1 0.25 0 0
CUI: C1859462
Disease: Absent knee epiphyses
Absent knee epiphyses 		1 0 1 0.25 0 0
CUI: C1861213
Disease: Wide-cupped costochondral junctions
Wide-cupped costochondral junctions 		1 0 1 0.25 0 0
CUI: C1862415
Disease: Cervical segmentation defect
Cervical segmentation defect 		1 0 1 0.25 0 0
CUI: C1862420
Disease: Tombstone-shaped proximal phalanges
Tombstone-shaped proximal phalanges 		1 0 1 0.25 0 0
CUI: C1862421
Disease: Widened distal phalanges
Widened distal phalanges 		1 0 1 0.25 0 0
CUI: C1862428
Disease: Thoracic platyspondyly
Thoracic platyspondyly 		1 0 1 0.25 0 0
CUI: C1863423
Disease: Lumbar kyphosis in infancy
Lumbar kyphosis in infancy 		1 0 1 0.25 0 0
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 0.25 1 1.0E-01
CUI: C1864854
Disease: Broad femoral metaphyses
Broad femoral metaphyses 		1 0 1 0.25 0 0
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 0.25 1 1.00
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 0.25 1 0.12
CUI: C2678323
Disease: C2-C3 subluxation
C2-C3 subluxation 		1 0 1 0.25 0 0
CUI: C2678399
Disease: Absent humerus
Absent humerus 		1 0 1 0.25 0 0
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		1 0 1 0.25 0 0
CUI: C2930793
Disease: Achondroplastic dwarfism
Achondroplastic dwarfism 		1 0 1 0.25 0 0