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: C0431887
Disease: Hitch-hiker thumb
Hitch-hiker thumb 		3 0 2 0.40 0 0
CUI: C0575170
Disease: Cervical kyphosis
Cervical kyphosis 		3 0 2 0.40 0 0
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		3 0 2 0.40 0 0
CUI: C3806280
Disease: Laryngotracheal stenosis
Laryngotracheal stenosis 		3 0 2 0.40 0 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		5 0 2 0.29 0 0
CUI: C0003516
Disease: Aortopulmonary Septal Defect
Aortopulmonary Septal Defect 		1 0 1 0.25 0 0
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		6 14 2 0.25 11 0.41
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		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: 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: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		1 0 1 0.25 0 0
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		1 0 1 0.25 0 0
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		1 0 1 0.25 0 0
CUI: C1856923
Disease: Double-layered patella
Double-layered patella 		1 0 1 0.25 0 0
CUI: C1857255
Disease: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 		1 0 1 0.25 0 0
CUI: C1857263
Disease: Hypertrophic auricular cartilage
Hypertrophic auricular cartilage 		1 0 1 0.25 0 0
CUI: C1858042
Disease: Becker Nevus Syndrome
Becker Nevus Syndrome 		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: C1862496
Disease: Facial midline hemangioma
Facial midline hemangioma 		1 0 1 0.25 0 0
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