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: C1856471
Disease: Short metacarpals with rounded proximal ends
Short metacarpals with rounded proximal ends 		1 0 1 1.00 0 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		4 0 1 0.25 0 0
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated 		5 0 1 0.20 0 0
CUI: C0282631
Disease: Facies
Facies 		10 0 1 1.0E-01 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		10 0 1 1.0E-01 0 0
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		10 7 1 1.0E-01 6 0.46
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 1 9.1E-02 0 0
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		15 0 1 6.7E-02 0 0
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		15 0 1 6.7E-02 0 0
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1 		16 0 1 6.2E-02 0 0
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		20 0 1 5.0E-02 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		21 0 1 4.8E-02 0 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		22 0 1 4.5E-02 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 1 4.3E-02 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 1 4.2E-02 0 0
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		24 0 1 4.2E-02 0 0
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		26 0 1 3.8E-02 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 1 3.4E-02 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		30 0 1 3.3E-02 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 1 2.9E-02 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 1 2.7E-02 0 0
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		38 0 1 2.6E-02 0 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		39 0 1 2.6E-02 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 1 2.5E-02 0 0
CUI: C0241165
Disease: Thick skin
Thick skin 		40 0 1 2.5E-02 0 0