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: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		0 2 0 0 1 1.1E-02
CUI: C0917967
Disease: Pupillary Functions, Abnormal
Pupillary Functions, Abnormal 		0 1 0 0 1 1.1E-02
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		0 4 0 0 1 1.1E-02
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0 5 0 0 1 1.0E-02
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		0 3 0 0 1 1.1E-02
CUI: C4479603
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS 		0 5 0 0 1 1.0E-02
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 1.6E-02 0 0
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0004099
Disease: Asthma, Exercise-Induced
Asthma, Exercise-Induced 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0004144
Disease: Atelectasis
Atelectasis 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 1.6E-02 0 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 0 1 1.6E-02 0 0
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 1.6E-02 0 0
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 1.6E-02 0 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		1 0 1 1.6E-02 0 0
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		1 3 1 1.6E-02 3 3.3E-02
CUI: C0020488
Disease: Hypernatremia
Hypernatremia 		1 1 1 1.6E-02 1 1.1E-02
CUI: C0020581
Disease: Hyphema
Hyphema 		1 0 1 1.6E-02 0 0
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		1 1 1 1.6E-02 1 1.1E-02
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		1 2 1 1.6E-02 1 1.1E-02
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 1.6E-02 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		1 0 1 1.6E-02 0 0
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		1 1 1 1.6E-02 1 1.1E-02
CUI: C0026961
Disease: Mydriasis
Mydriasis 		1 0 1 1.6E-02 0 0