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: C2931383
Disease: Chromosomal mosaicism due to mitotic instability
Chromosomal mosaicism due to mitotic instability 		3 0 2 0.50 0 0
CUI: C1850348
Disease: Hypodysplasia of the corpus callosum
Hypodysplasia of the corpus callosum 		1 0 1 0.33 0 0
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		5 0 2 0.33 0 0
CUI: C4539839
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 		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: C0442880
Disease: Periungual fibroma
Periungual fibroma 		2 0 1 0.25 0 0
CUI: C1860715
Disease: Giant cell astrocytoma
Giant cell astrocytoma 		2 0 1 0.25 0 0
CUI: C0238399
Disease: Pulmonary lymphangiomyomatosis
Pulmonary lymphangiomyomatosis 		3 0 1 0.20 0 0
CUI: C0266003
Disease: Subungual fibroma
Subungual fibroma 		3 0 1 0.20 0 0
CUI: C1846386
Disease: Focal Cortical Dysplasia of Taylor, Type IIa
Focal Cortical Dysplasia of Taylor, Type IIa 		3 0 1 0.20 0 0
CUI: C1846389
Disease: Focal Cortical Dysplasia of Taylor, Type IIb
Focal Cortical Dysplasia of Taylor, Type IIb 		3 0 1 0.20 0 0
CUI: C1860710
Disease: Achromatic retinal patches
Achromatic retinal patches 		3 0 1 0.20 0 0
CUI: C1968958
Disease: Subependymal nodules
Subependymal nodules 		3 0 1 0.20 0 0
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		3 0 1 0.20 0 0
CUI: C4551992
Disease: ANTERIOR SEGMENT DYSGENESIS 1
ANTERIOR SEGMENT DYSGENESIS 1 		3 0 1 0.20 0 0
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		10 0 2 0.18 0 0
CUI: C0024224
Disease: lymphangiosarcoma
lymphangiosarcoma 		4 0 1 0.17 0 0
CUI: C0242426
Disease: Chylopericardium
Chylopericardium 		4 0 1 0.17 0 0
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		4 0 1 0.17 0 0
CUI: C0477984
Disease: Other congenital malformations of anterior segment of eye
Other congenital malformations of anterior segment of eye 		4 0 1 0.17 0 0
CUI: C1863411
Disease: Retinal hamartoma
Retinal hamartoma 		4 0 1 0.17 0 0
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		4 0 1 0.17 0 0
CUI: C0002938
Disease: Aneuploidy
Aneuploidy 		5 0 1 0.14 0 0
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		13 0 2 0.14 0 0
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits 		5 0 1 0.14 0 0