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 0 1 4.1E-03 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 0 1 4.8E-02 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 8.3E-02 1 5.3E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 2 4.5E-02 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 3 1 9.1E-02 1 5.9E-02
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 11 1 5.6E-02 1 4.0E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 2.0E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.9E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 2 6.5E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		4 0 1 8.3E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 2.1E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.6E-02 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		3 5 2 0.20 3 0.18
CUI: C0018564
Disease: Hand deformities
Hand deformities 		1 2 1 0.11 2 0.13
CUI: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		3 0 1 9.1E-02 0 0
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		1 3 1 0.11 3 0.20
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		1 1 1 0.11 1 6.7E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		28 0 1 2.8E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.2E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 1 5.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 3 8.8E-03 1 1.7E-03
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		6 0 1 7.1E-02 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 63 2 4.5E-02 3 4.0E-02
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		11 0 1 5.3E-02 0 0
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		1 0 1 0.11 0 0