Source: CLINVAR ×
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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 350 1 3.8E-03 1 2.5E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		14 0 1 2.7E-02 0 0
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 0 1 3.2E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.7E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 0 1 3.0E-02 0 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 2 3.1E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.5E-02 0 0
CUI: C0008767
Disease: Cicatrization
Cicatrization 		2 0 1 4.0E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		4 0 1 3.7E-02 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 34 1 2.0E-02 1 1.2E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.6E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 1.9E-02 0 0
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		5 13 3 0.12 1 1.6E-02
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		3 0 1 3.8E-02 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		8 0 1 3.2E-02 0 0
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		3 0 1 3.8E-02 0 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		10 0 1 3.0E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.2E-02 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 0 1 2.1E-02 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 74 1 2.0E-02 1 8.0E-03
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		2 0 1 4.0E-02 0 0
CUI: C0023798
Disease: Lipoma
Lipoma 		5 0 1 3.6E-02 0 0
CUI: C0024003
Disease: Lordosis
Lordosis 		9 0 2 6.5E-02 0 0
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		4 0 1 3.7E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 240 3 1.6E-02 1 3.4E-03