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 7.1E-03
CUI: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 8.3E-03
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0 6 0 0 1 8.1E-03
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 8.1E-03
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		0 6 0 0 1 8.1E-03
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0 3 0 0 1 8.3E-03
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 8.3E-03
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0 2 0 0 1 8.4E-03
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 8.3E-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 8.5E-03
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 8.5E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 8.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 420 1 5.7E-03 1 1.9E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 218 1 6.0E-03 2 6.0E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 0 1 7.6E-03 0 0
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 0 1 7.9E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		34 81 1 8.2E-03 1 5.1E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		31 0 1 8.4E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 8.6E-03 0 0
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		28 74 1 8.6E-03 1 5.2E-03
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		28 0 1 8.6E-03 0 0
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		27 0 1 8.7E-03 0 0
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 0 1 8.7E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		26 0 1 8.8E-03 0 0
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		26 0 1 8.8E-03 0 0