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: C0431718
Disease: Multiple renal cysts
Multiple renal cysts 		0 4 0 0 1 2.4E-03
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0 10 0 0 1 2.3E-03
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0 4 0 0 1 2.4E-03
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0 6 0 0 1 2.4E-03
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		0 1 0 0 1 2.4E-03
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0 104 0 0 2 3.9E-03
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 		0 1 0 0 1 2.4E-03
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules 		0 1 0 0 1 2.4E-03
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		0 4 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 2 4.6E-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
CUI: C4317045
Disease: Gluten intolerance
Gluten intolerance 		0 1 0 0 1 2.4E-03
CUI: C4693362
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 		0 6 0 0 1 2.4E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		88 0 1 3.1E-03 0 0
CUI: C0026848
Disease: Myopathy
Myopathy 		37 0 1 3.7E-03 0 0
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		36 0 1 3.7E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 61 1 3.7E-03 1 2.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 0 1 3.8E-03 0 0
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		27 0 1 3.8E-03 0 0
CUI: C0011053
Disease: Deafness
Deafness 		23 0 1 3.9E-03 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		21 0 1 3.9E-03 0 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		18 0 1 3.9E-03 0 0
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		16 0 1 4.0E-03 0 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		16 0 1 4.0E-03 0 0