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: C0021933
Disease: Intussusception
Intussusception 		1 0 1 1.5E-02 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		6 0 1 1.4E-02 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 1.5E-02 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		7 0 1 1.4E-02 0 0
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		7 0 1 1.4E-02 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 9.5E-03 0 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 2 2.2E-02 0 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		2 0 1 1.5E-02 0 0
CUI: C0027809
Disease: Neurilemmoma
Neurilemmoma 		1 0 1 1.5E-02 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 0 1 1.4E-02 0 0
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 0 1 1.5E-02 0 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		23 0 1 1.1E-02 0 0
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		2 0 1 1.5E-02 0 0
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		2 0 1 1.5E-02 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		3 0 1 1.4E-02 0 0
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		4 0 1 1.4E-02 0 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 0 1 1.4E-02 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 2 1.9E-02 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 1.5E-02 0 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		8 0 1 1.4E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		18 0 1 1.2E-02 0 0
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		6 0 1 1.4E-02 0 0
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		4 0 1 1.4E-02 0 0
CUI: C0041657
Disease: Unconscious State
Unconscious State 		1 0 1 1.5E-02 0 0
CUI: C0042063
Disease: Urogenital Abnormalities
Urogenital Abnormalities 		2 0 1 1.5E-02 0 0