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: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula 		2 0 2 0.33 0 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		6 0 3 0.33 0 0
CUI: C1862698
Disease: Aplasia/Hypoplasia of the 3rd toe
Aplasia/Hypoplasia of the 3rd toe 		2 0 2 0.33 0 0
CUI: C1867132
Disease: Plantar crease between first and second toes
Plantar crease between first and second toes 		2 0 2 0.33 0 0
CUI: C4025806
Disease: High axial triradius
High axial triradius 		2 0 2 0.33 0 0
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		2 0 2 0.33 0 0
CUI: C1290508
Disease: Abnormal number of teeth
Abnormal number of teeth 		3 0 2 0.29 0 0
CUI: C4024162
Disease: Abnormality of the tragus
Abnormality of the tragus 		3 0 2 0.29 0 0
CUI: C4025111
Disease: Radial deviation of thumb terminal phalanx
Radial deviation of thumb terminal phalanx 		3 0 2 0.29 0 0
CUI: C0265246
Disease: Townes syndrome
Townes syndrome 		4 0 2 0.25 0 0
CUI: C0266345
Disease: Congenital urethral valve
Congenital urethral valve 		5 0 2 0.22 0 0
CUI: C0399357
Disease: Talon cusp
Talon cusp 		5 0 2 0.22 0 0
CUI: C0549397
Disease: Deviated nasal septum
Deviated nasal septum 		5 0 2 0.22 0 0
CUI: C1844508
Disease: Large foramen magnum
Large foramen magnum 		6 0 2 0.20 0 0
CUI: C4024221
Disease: Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis 		6 0 2 0.20 0 0
CUI: C0425772
Disease: Premature development of the breasts
Premature development of the breasts 		7 0 2 0.18 0 0
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		7 0 2 0.18 0 0
CUI: C0221214
Disease: Vascular ring
Vascular ring 		8 0 2 0.17 0 0
CUI: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		1 0 1 0.17 0 0
CUI: C0266501
Disease: Spina bifida of cervical region
Spina bifida of cervical region 		1 0 1 0.17 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 0.17 0 0
CUI: C1850533
Disease: Yellow subcutaneous tissue covered by thin, scaly skin
Yellow subcutaneous tissue covered by thin, scaly skin 		1 0 1 0.17 0 0
CUI: C1856017
Disease: Adrenal gland dysgenesis
Adrenal gland dysgenesis 		1 0 1 0.17 0 0
CUI: C1856027
Disease: Cleft in skull base
Cleft in skull base 		1 0 1 0.17 0 0
CUI: C1856029
Disease: Proximal tibial hypoplasia
Proximal tibial hypoplasia 		1 0 1 0.17 0 0