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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		54 0 1 1.5E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 2.9E-02 0 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 0 1 2.4E-02 0 0
CUI: C0018916
Disease: Hemangioma
Hemangioma 		12 0 1 4.3E-02 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 0 1 2.8E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 1 3.0E-02 0 0
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		10 0 1 4.8E-02 0 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		2 0 1 7.7E-02 0 0
CUI: C0023882
Disease: Little's Disease
Little's Disease 		6 0 1 5.9E-02 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		1 0 1 8.3E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 2.0E-02 0 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		20 0 1 3.2E-02 0 0
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		6 10 1 5.9E-02 1 4.3E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 0 1 1.4E-02 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 0 1 3.3E-02 0 0
CUI: C0030554
Disease: Paresthesia
Paresthesia 		8 8 1 5.3E-02 1 4.8E-02
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 3.4E-02 0 0
CUI: C0033300
Disease: Progeria
Progeria 		1 0 1 8.3E-02 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		11 15 1 4.5E-02 2 7.4E-02
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		13 0 1 4.2E-02 0 0
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		37 0 1 2.1E-02 0 0
CUI: C0079035
Disease: Bradyarrhythmia (disorder)
Bradyarrhythmia (disorder) 		1 0 1 8.3E-02 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 0 1 3.6E-02 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		35 0 1 2.2E-02 0 0
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		4 0 1 6.7E-02 0 0