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: C0026961
Disease: Mydriasis
Mydriasis 		0 2 0 0 1 2.4E-03
CUI: C0030232
Disease: Pallor
Pallor 		0 4 0 0 1 2.4E-03
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0 3 0 0 1 2.4E-03
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0 2 0 0 1 2.4E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 2.4E-03
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		0 3 0 0 1 2.4E-03
CUI: C0576225
Disease: Long foot
Long foot 		0 3 0 0 1 2.4E-03
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 2.4E-03
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		0 1 0 0 1 2.4E-03
CUI: C1839783
Disease: Large forehead
Large forehead 		0 1 0 0 1 2.4E-03
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0 10 0 0 1 2.4E-03
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement 		0 5 0 0 1 2.4E-03
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		0 4 0 0 1 2.4E-03
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0 3 0 0 1 2.4E-03
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 2.4E-03
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules 		0 1 0 0 1 2.4E-03
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		0 13 0 0 1 2.4E-03
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		0 3 0 0 1 2.4E-03
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0 3 0 0 1 2.4E-03
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 2.3E-03
CUI: C4021603
Disease: Widely spaced primary teeth
Widely spaced primary teeth 		0 1 0 0 1 2.4E-03
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0 3 0 0 1 2.4E-03
CUI: C4023422
Disease: Long palm
Long palm 		0 2 0 0 1 2.4E-03
CUI: C4024661
Disease: Abnormality of the vertebral spinous processes
Abnormality of the vertebral spinous processes 		0 1 0 0 1 2.4E-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 2.4E-03