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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 70 1 3.0E-03 1 1.7E-03
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		25 0 1 3.1E-03 0 0
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 3.1E-03 0 0
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 0 1 3.1E-03 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 1 3.1E-03 0 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		21 442 1 3.1E-03 1 1.1E-03
CUI: C0036346
Disease: Schizophrenia, Childhood
Schizophrenia, Childhood 		20 0 1 3.1E-03 0 0
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		20 0 1 3.1E-03 0 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		18 0 1 3.1E-03 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 2106 1 3.1E-03 2 7.7E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		16 0 1 3.1E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		14 0 1 3.2E-03 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 0 1 3.2E-03 0 0
CUI: C0039075
Disease: Syndactyly
Syndactyly 		13 0 1 3.2E-03 0 0