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: C1844508
Disease: Large foramen magnum
Large foramen magnum 		6 0 3 0.25 0 0
CUI: C1867132
Disease: Plantar crease between first and second toes
Plantar crease between first and second toes 		2 0 2 0.22 0 0
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 2 2 0.22 2 0.40
CUI: C4025806
Disease: High axial triradius
High axial triradius 		2 0 2 0.22 0 0
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		2 0 2 0.22 0 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth 		3 0 2 0.20 0 0
CUI: C1845546
Disease: FG SYNDROME 4 (disorder)
FG SYNDROME 4 (disorder) 		3 0 2 0.20 0 0
CUI: C1845567
Disease: FG SYNDROME 3
FG SYNDROME 3 		3 0 2 0.20 0 0
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2 		3 0 2 0.20 0 0
CUI: C4025111
Disease: Radial deviation of thumb terminal phalanx
Radial deviation of thumb terminal phalanx 		3 0 2 0.20 0 0
CUI: C4021260
Disease: Long metacarpals
Long metacarpals 		4 1 2 0.18 1 0.20
CUI: C0399357
Disease: Talon cusp
Talon cusp 		5 0 2 0.17 0 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		5 0 2 0.17 0 0
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 6 2 0.17 2 0.22
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		6 0 2 0.15 0 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		6 0 2 0.15 0 0
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 2 0.15 2 0.25
CUI: C4024221
Disease: Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis 		6 0 2 0.15 0 0
CUI: C0425772
Disease: Premature development of the breasts
Premature development of the breasts 		7 0 2 0.14 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 2 0.14 0 0
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		7 0 2 0.14 0 0
CUI: C1862313
Disease: Short distal phalanx of the thumb
Short distal phalanx of the thumb 		7 0 2 0.14 0 0
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		16 0 3 0.14 0 0
CUI: C0221214
Disease: Vascular ring
Vascular ring 		8 0 2 0.13 0 0
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		9 0 2 0.12 0 0