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: C0000731
Disease: Abdomen distended
Abdomen distended 		6 0 1 1.5E-02 0 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		2 2 1 1.6E-02 1 1.1E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		5 0 1 1.5E-02 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 1.6E-02 0 0
CUI: C0002940
Disease: Aneurysm
Aneurysm 		12 0 1 1.4E-02 0 0
CUI: C0003079
Disease: Anisocoria
Anisocoria 		4 5 1 1.5E-02 2 2.1E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		3 0 1 1.5E-02 0 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		2 2 1 1.6E-02 1 1.1E-02
CUI: C0003578
Disease: Apnea
Apnea 		7 0 1 1.4E-02 0 0
CUI: C0004099
Disease: Asthma, Exercise-Induced
Asthma, Exercise-Induced 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 0 1 1.5E-02 0 0
CUI: C0004144
Disease: Atelectasis
Atelectasis 		1 2 1 1.6E-02 2 2.2E-02
CUI: C0004158
Disease: Athetosis
Athetosis 		2 3 1 1.6E-02 1 1.1E-02
CUI: C0004604
Disease: Back Pain
Back Pain 		2 3 1 1.6E-02 2 2.2E-02
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		3 0 1 1.5E-02 0 0
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		7 17 1 1.4E-02 1 9.3E-03
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		8 0 1 1.4E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 1.1E-02 0 0