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 3.8E-03
CUI: C0014394
Disease: Enuresis
Enuresis 		0 3 0 0 1 4.1E-03
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0 6 0 0 1 4.1E-03
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 4.1E-03
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0 19 0 0 1 3.9E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 4.0E-03
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 4.1E-03
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 4.1E-03
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 4.1E-03
CUI: C4023077
Disease: EEG with central focal spikes
EEG with central focal spikes 		0 2 0 0 1 4.1E-03
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 4.1E-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 4.2E-03
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 4.2E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 4.1E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 5.1E-03 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 0 1 5.1E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 0 1 5.1E-03 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		28 0 1 5.3E-03 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 0 1 5.3E-03 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		24 0 1 5.4E-03 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 0 1 5.4E-03 0 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		22 101 1 5.5E-03 1 2.9E-03
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 1 5.5E-03 1 3.8E-03
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		21 0 1 5.5E-03 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 48 1 5.5E-03 1 3.5E-03