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: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 4.2E-03 1 2.4E-03
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		1 0 1 4.2E-03 0 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		1 1 1 4.2E-03 1 2.4E-03
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		1 88 1 4.2E-03 1 2.0E-03
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		1 0 1 4.2E-03 0 0
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 0 1 4.2E-03 0 0
CUI: C0007642
Disease: Cellulitis
Cellulitis 		1 1 1 4.2E-03 1 2.4E-03
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 4.2E-03 0 0
CUI: C0008733
Disease: Chylothorax
Chylothorax 		1 0 1 4.2E-03 0 0
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 1 1 4.2E-03 1 2.4E-03
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		1 0 1 4.2E-03 0 0