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: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		148 0 1 6.8E-03 0 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		21 0 1 4.8E-02 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 1 2.5E-03 0 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		234 0 1 4.3E-03 0 0
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities 		15 0 1 6.7E-02 0 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		272 0 1 3.7E-03 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		1760 0 1 5.7E-04 0 0
CUI: C0009917
Disease: Contracture
Contracture 		111 0 1 9.0E-03 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 0 1 1.8E-02 0 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 1 1.5E-02 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: 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: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		15 0 1 6.7E-02 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 6.0E-03 0 0
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		10 7 1 1.0E-01 6 0.46
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 0 1 5.5E-04 0 0
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		39 0 1 2.6E-02 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: C0241703
Disease: High pitched voice
High pitched voice 		35 0 1 2.9E-02 0 0
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		985 0 1 1.0E-03 0 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		11 0 1 9.1E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 7.8E-03 0 0