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: C1837467
Disease: Excessive skin wrinkling on dorsum of hands and fingers
Excessive skin wrinkling on dorsum of hands and fingers 		1 0 1 0.50 0 0
CUI: C1853573
Disease: Hypoplastic inferior pubic rami
Hypoplastic inferior pubic rami 		1 0 1 0.50 0 0
CUI: C4024884
Disease: Neonatal wrinkled skin of hands and feet
Neonatal wrinkled skin of hands and feet 		1 0 1 0.50 0 0
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		2 0 1 0.33 0 0
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora 		2 0 1 0.33 0 0
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		2 0 1 0.33 0 0
CUI: C2931006
Disease: Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 1L 		2 0 1 0.33 0 0
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		3 0 1 0.25 0 0
CUI: C0268355
Disease: Cutis Laxa, Autosomal Recessive, Type IIA
Cutis Laxa, Autosomal Recessive, Type IIA 		3 0 1 0.25 0 0
CUI: C0342634
Disease: Neonatal hypocalcemia
Neonatal hypocalcemia 		3 0 1 0.25 0 0
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		3 0 1 0.25 0 0
CUI: C0796094
Disease: Blepharophimosis syndrome Ohdo type
Blepharophimosis syndrome Ohdo type 		3 0 1 0.25 0 0
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		3 0 1 0.25 0 0
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		3 0 1 0.25 0 0
CUI: C1861873
Disease: Multiple plantar creases
Multiple plantar creases 		3 0 1 0.25 0 0
CUI: C2037047
Disease: Subretinal pigment epithelium hemorrhage
Subretinal pigment epithelium hemorrhage 		3 0 1 0.25 0 0
CUI: C2675547
Disease: Slender long bones with narrow diaphyses
Slender long bones with narrow diaphyses 		3 0 1 0.25 0 0
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement 		3 0 1 0.25 0 0
CUI: C4476553
Disease: Atrial septal dilatation
Atrial septal dilatation 		3 0 1 0.25 0 0
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level 		3 0 1 0.25 0 0
CUI: C4479387
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		3 0 1 0.25 0 0
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		3 0 1 0.25 0 0
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		4 0 1 0.20 0 0
CUI: C1861872
Disease: Multiple palmar creases
Multiple palmar creases 		4 0 1 0.20 0 0
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		4 0 1 0.20 0 0