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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 9.5E-03 0 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		37 94 1 1.0E-02 1 5.4E-03
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 402 1 1.0E-02 2 4.1E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 45 1 1.0E-02 1 7.4E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		34 42 1 1.0E-02 1 7.5E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 0 1 1.1E-02 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 1.1E-02 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 41 1 1.1E-02 1 7.6E-03
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		27 45 1 1.1E-02 3 2.2E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 0 1 1.1E-02 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 52 1 1.2E-02 1 7.0E-03
CUI: C0028754
Disease: Obesity
Obesity 		24 42 1 1.2E-02 1 7.5E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		24 0 1 1.2E-02 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 0 1 1.2E-02 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 442 1 1.2E-02 6 1.1E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		19 0 1 1.2E-02 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 0 1 1.3E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 1.3E-02 0 0
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		18 0 1 1.3E-02 0 0