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: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		3 0 2 0.18 0 0
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		4 0 2 0.17 0 0
CUI: C1849034
Disease: Hypoplastic iliac body
Hypoplastic iliac body 		4 0 2 0.17 0 0
CUI: C1849063
Disease: Short iliac bones
Short iliac bones 		4 0 2 0.17 0 0
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 0 2 0.17 0 0
CUI: C4024618
Disease: Large iliac wings
Large iliac wings 		6 0 2 0.14 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 3 0.11 0 0
CUI: C0023075
Disease: Laryngostenosis
Laryngostenosis 		11 0 2 0.11 0 0
CUI: C0423808
Disease: Brachyonychia
Brachyonychia 		11 0 2 0.11 0 0
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		11 0 2 0.11 0 0
CUI: C0265669
Disease: Congenital dislocation of knee
Congenital dislocation of knee 		1 0 1 1.0E-01 0 0
CUI: C0432201
Disease: Boomerang dysplasia
Boomerang dysplasia 		1 0 1 1.0E-01 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 1.0E-01 0 0
CUI: C1836121
Disease: Al-Gazali Syndrome
Al-Gazali Syndrome 		1 0 1 1.0E-01 0 0
CUI: C1837464
Disease: Small eyes
Small eyes 		1 0 1 1.0E-01 0 0
CUI: C1859458
Disease: Cleft vertebral arch
Cleft vertebral arch 		1 0 1 1.0E-01 0 0
CUI: C1859462
Disease: Absent knee epiphyses
Absent knee epiphyses 		1 0 1 1.0E-01 0 0
CUI: C1862415
Disease: Cervical segmentation defect
Cervical segmentation defect 		1 0 1 1.0E-01 0 0
CUI: C1862420
Disease: Tombstone-shaped proximal phalanges
Tombstone-shaped proximal phalanges 		1 0 1 1.0E-01 0 0
CUI: C1862421
Disease: Widened distal phalanges
Widened distal phalanges 		1 0 1 1.0E-01 0 0
CUI: C1862428
Disease: Thoracic platyspondyly
Thoracic platyspondyly 		1 0 1 1.0E-01 0 0
CUI: C1863734
Disease: Caudal interpedicular narrowing
Caudal interpedicular narrowing 		1 0 1 1.0E-01 0 0
CUI: C2678323
Disease: C2-C3 subluxation
C2-C3 subluxation 		1 0 1 1.0E-01 0 0
CUI: C2678399
Disease: Absent humerus
Absent humerus 		1 0 1 1.0E-01 0 0
CUI: C3280598
Disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 		1 0 1 1.0E-01 0 0