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 4.2E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		14 0 1 5.9E-02 0 0
CUI: C0004158
Disease: Athetosis
Athetosis 		2 0 1 0.20 0 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.8E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 2.1E-02 0 0
CUI: C0009024
Disease: Clonus
Clonus 		4 0 1 0.14 0 0
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		12 0 1 6.7E-02 0 0
CUI: C0011071
Disease: Sudden death
Sudden death 		4 0 1 0.14 0 0
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		2 0 2 0.50 0 0
CUI: C0017639
Disease: Gliosis
Gliosis 		4 0 1 0.14 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 0 1 1.5E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.4E-02 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 0 1 1.3E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 2.9E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 3.2E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 3.7E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 4.5E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 4.8E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.5E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures 		237 0 2 8.4E-03 0 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		11 0 1 7.1E-02 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 0 1 2.7E-02 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		14 0 1 5.9E-02 0 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		16 0 1 5.3E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 0 1 3.8E-02 0 0