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: C0007097
Disease: Carcinoma
Carcinoma 		0 15 0 0 1 1.6E-04
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0 5 0 0 1 1.6E-04
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		0 1 0 0 1 1.6E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0 10 0 0 1 1.6E-04
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		0 104 0 0 4 6.2E-04
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		0 1 0 0 1 1.6E-04
CUI: C4017330
Disease: LIPOMA, SOMATIC
LIPOMA, SOMATIC 		0 1 0 0 1 1.6E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		103 131 1 5.9E-03 1 1.5E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		74 93 1 7.1E-03 1 1.5E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 8.2E-03 0 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		50 0 1 8.6E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 8.9E-03 1 1.6E-04
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		46 0 1 8.9E-03 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 172 1 9.0E-03 1 1.5E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 9.1E-03 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 1 9.1E-03 3 4.6E-04
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		43 0 1 9.2E-03 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 9.5E-03 0 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		39 0 1 9.5E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 1 9.5E-03 1 1.5E-04
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 1 9.5E-03 1 1.6E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 9.7E-03 0 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		36 46 1 9.8E-03 1 1.6E-04
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		35 45 1 9.9E-03 1 1.6E-04
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 1 9.9E-03 1 1.6E-04