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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 3 2.4E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 6.2E-03 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		162 0 2 8.1E-03 0 0
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		3 0 1 1.1E-02 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 8.7E-03 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 2 1.5E-02 0 0
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		11 0 1 1.0E-02 0 0
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		9 0 1 1.0E-02 0 0
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		3 0 1 1.1E-02 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		10 0 1 1.0E-02 0 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		2 0 2 2.3E-02 0 0
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		6 0 1 1.1E-02 0 0
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		2 0 1 1.1E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 1 3.1E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 8.3E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		14 0 1 9.9E-03 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		6 0 2 2.2E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 9.3E-03 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		13 0 3 3.1E-02 0 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		12 0 1 1.0E-02 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 0 1 9.6E-03 0 0
CUI: C0085632
Disease: Apathy
Apathy 		2 0 1 1.1E-02 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		1 0 1 1.1E-02 0 0
CUI: C0086543
Disease: Cataract
Cataract 		13 0 3 3.1E-02 0 0
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		5 0 1 1.1E-02 0 0