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: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 1.1E-02
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 1.1E-02
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0 23 0 0 1 9.3E-03
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0 17 0 0 1 9.9E-03
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 1.1E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 1.1E-02
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 1.1E-02
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0 3 0 0 1 1.1E-02
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 1.1E-02
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 9.3E-03
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0 2 0 0 1 1.2E-02
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 1.1E-02
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		0 1 0 0 1 1.2E-02
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 1.2E-02
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 1.1E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		43 0 1 9.7E-03 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 0 1 1.0E-02 0 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		32 36 1 1.1E-02 1 8.3E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 1.1E-02 0 0
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 0 1 1.2E-02 0 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		26 175 1 1.2E-02 1 3.9E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 1.2E-02 0 0
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		24 0 1 1.2E-02 0 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 0 1 1.2E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 1 1.2E-02 0 0