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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 2 4.5E-02 0 0
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: C0019555
Disease: Hip Dislocation, Congenital
Hip Dislocation, Congenital 		3 0 1 9.1E-02 0 0
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: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		6 0 1 7.1E-02 0 0
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
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		2 0 1 1.0E-01 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		6 0 1 7.1E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 2.2E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 3.4E-02 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 1 1.4E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract 		13 0 1 4.8E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 1 2.3E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		16 0 1 4.2E-02 0 0
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		7 0 1 6.7E-02 0 0