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: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0 24 0 0 1 4.7E-03
CUI: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 5.2E-03
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0 6 0 0 1 5.1E-03
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 5.2E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 5.0E-03
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 5.1E-03
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0 3 0 0 1 5.2E-03
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 5.2E-03
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0 2 0 0 1 5.2E-03
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 5.2E-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 5.2E-03
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 5.2E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 5.1E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 6.0E-03 0 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 0 1 6.3E-03 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		29 0 1 6.6E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 6.6E-03 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 0 1 6.6E-03 0 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		25 33 1 6.8E-03 1 4.5E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		24 0 1 6.8E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 6.8E-03 0 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		23 33 1 6.8E-03 1 4.5E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 0 1 6.9E-03 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 0 1 6.9E-03 0 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 0 1 6.9E-03 0 0