Source: ALL
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: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		3 0 3 1.00 0 0
CUI: C0442880
Disease: Periungual fibroma
Periungual fibroma 		2 0 2 0.67 0 0
CUI: C1860715
Disease: Giant cell astrocytoma
Giant cell astrocytoma 		2 0 2 0.67 0 0
CUI: C0238399
Disease: Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis 		3 0 2 0.50 0 0
CUI: C0266003
Disease: Subungual fibroma
Subungual fibroma 		3 0 2 0.50 0 0
CUI: C1112324
Disease: Multifocal micronodular pneumocyte hyperplasia
Multifocal micronodular pneumocyte hyperplasia 		6 0 3 0.50 0 0
CUI: C1860710
Disease: Achromatic retinal patches
Achromatic retinal patches 		3 0 2 0.50 0 0
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules 		3 0 2 0.50 0 0
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		3 0 2 0.50 0 0
CUI: C0242426
Disease: Chylopericardium
Chylopericardium 		4 0 2 0.40 0 0
CUI: C1863411
Disease: Retinal hamartoma
Retinal hamartoma 		4 0 2 0.40 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 0 1 0.33 0 0
CUI: C1302778
Disease: Congenital lymphatic malformation
Congenital lymphatic malformation 		1 0 1 0.33 0 0
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits 		5 0 2 0.33 0 0
CUI: C2350234
Disease: Clear-Cell Sugar Tumors
Clear-Cell Sugar Tumors 		5 0 2 0.33 0 0
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 0 1 0.33 0 0
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 0 1 0.33 0 0
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.33 0 0
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 0 1 0.33 0 0
CUI: C4479673
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 		1 0 1 0.33 0 0
CUI: C4525743
Disease: Rectal Neuroendocrine Tumor
Rectal Neuroendocrine Tumor 		1 0 1 0.33 0 0
CUI: C4551756
Disease: Waldenstrom's macroglobulinaemia refractory
Waldenstrom's macroglobulinaemia refractory 		1 0 1 0.33 0 0
CUI: C4707795
Disease: Isolated focal cortical dysplasia
Isolated focal cortical dysplasia 		1 0 1 0.33 0 0
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		6 0 2 0.29 0 0
CUI: C1332852
Disease: Cardiac rhabdomyoma
Cardiac rhabdomyoma 		6 0 2 0.29 0 0