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: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		234 0 1 4.3E-03 0 0
CUI: C0009917
Disease: Contracture
Contracture 		111 0 1 9.0E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		24 0 1 4.2E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 3.7E-03 0 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		39 0 1 2.6E-02 0 0
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		15 0 1 6.7E-02 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		1760 0 1 5.7E-04 0 0
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		79 0 1 1.3E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 1 1.9E-03 0 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		148 0 1 6.8E-03 0 0
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		23 0 1 4.3E-02 0 0
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 1 8.4E-03 0 0
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		170 0 1 5.9E-03 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 0 1 2.5E-02 0 0
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		38 0 1 2.6E-02 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 1 4.8E-03 0 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		845 0 1 1.2E-03 0 0
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		77 0 1 1.3E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		2152 0 1 4.6E-04 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: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		26 0 1 3.8E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 0 1 1.8E-02 0 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		163 0 1 6.1E-03 0 0