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: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		1 0 1 8.1E-03 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 8.1E-03 0 0
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		1 1 1 8.1E-03 1 5.2E-03
CUI: C0008733
Disease: Chylothorax
Chylothorax 		1 0 1 8.1E-03 0 0
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 1 1 8.1E-03 1 5.2E-03
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		1 0 1 8.1E-03 0 0
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		1 0 1 8.1E-03 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		1 2 1 8.1E-03 2 1.0E-02
CUI: C0018621
Disease: Hay fever
Hay fever 		1 0 1 8.1E-03 0 0
CUI: C0018946
Disease: Hematoma, Subdural
Hematoma, Subdural 		1 1 1 8.1E-03 1 5.2E-03
CUI: C0019825
Disease: Hoarseness
Hoarseness 		1 1 1 8.1E-03 1 5.2E-03
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		1 1 1 8.1E-03 1 5.2E-03