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: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 1.9E-03
CUI: C0917967
Disease: Pupillary Functions, Abnormal
Pupillary Functions, Abnormal 		0 1 0 0 1 2.0E-03
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		0 4 0 0 1 2.0E-03
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0 5 0 0 1 2.0E-03
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 2.0E-03
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 2.0E-03
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0 23 0 0 1 1.9E-03
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		0 1 0 0 1 2.0E-03
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 2.0E-03
CUI: C4479603
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS 		0 5 0 0 1 2.0E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 2.0E-03
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 3.3E-03 0 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		1 1 1 3.3E-03 1 2.0E-03
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		1 88 1 3.3E-03 2 3.4E-03
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 3.3E-03 0 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 3.3E-03 0 0
CUI: C0007642
Disease: Cellulitis
Cellulitis 		1 1 1 3.3E-03 1 2.0E-03
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 3.3E-03 0 0
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 1 1 3.3E-03 1 2.0E-03
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		1 1 1 3.3E-03 1 2.0E-03
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 3.3E-03 0 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		1 0 1 3.3E-03 0 0
CUI: C0016873
Disease: Fused Teeth
Fused Teeth 		1 1 1 3.3E-03 1 2.0E-03
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		1 0 1 3.3E-03 0 0
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		1 0 1 3.3E-03 0 0