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: C3151525
Disease: Hypoplastic heart
Hypoplastic heart 		3 0 3 0.75 0 0
CUI: C1867448
Disease: Multiple pterygia
Multiple pterygia 		4 0 3 0.60 0 0
CUI: C1837122
Disease: Myasthenic Syndrome, Congenital, Fast-Channel
Myasthenic Syndrome, Congenital, Fast-Channel 		3 0 2 0.40 0 0
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		8 0 3 0.33 0 0
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		4 0 2 0.33 0 0
CUI: C0155411
Disease: Exostosis of external ear canal
Exostosis of external ear canal 		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: C1849577
Disease: Neck pterygia
Neck pterygia 		1 0 1 0.25 0 0
CUI: C1849579
Disease: Anterior clefting of vertebral bodies
Anterior clefting of vertebral bodies 		1 0 1 0.25 0 0
CUI: C1849580
Disease: Dysplastic patella
Dysplastic patella 		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: 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: C2931107
Disease: Myasthenic syndrome, congenital, postsynaptic slow-channel
Myasthenic syndrome, congenital, postsynaptic slow-channel 		1 0 1 0.25 0 0
CUI: C3668942
Disease: Atelosteogenesis Type 3
Atelosteogenesis Type 3 		1 0 1 0.25 0 0
CUI: C4021711
Disease: Epiphyseal stippling of the humerus
Epiphyseal stippling of the humerus 		1 0 1 0.25 0 0
CUI: C4021953
Disease: Poorly ossified vertebrae
Poorly ossified vertebrae 		1 0 1 0.25 0 0
CUI: C4022506
Disease: Multinucleated giant chondrocytes in epiphyseal cartilage
Multinucleated giant chondrocytes in epiphyseal cartilage 		1 0 1 0.25 0 0
CUI: C4022664
Disease: Fused thoracic vertebrae
Fused thoracic vertebrae 		1 0 1 0.25 0 0
CUI: C4025049
Disease: Distal tapering femur
Distal tapering femur 		1 0 1 0.25 0 0