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: C0410654
Disease: Instability of atlantooccipital joint
Instability of atlantooccipital joint 		1 0 1 0.20 0 0
CUI: C1837467
Disease: Excessive skin wrinkling on dorsum of hands and fingers
Excessive skin wrinkling on dorsum of hands and fingers 		1 0 1 0.20 0 0
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		1 0 1 0.20 0 0
CUI: C4024884
Disease: Neonatal wrinkled skin of hands and feet
Neonatal wrinkled skin of hands and feet 		1 0 1 0.20 0 0
CUI: C4310897
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS 		1 0 1 0.20 0 0
CUI: C4755314
Disease: Autosomal recessive cutis laxa type 2B
Autosomal recessive cutis laxa type 2B 		1 0 1 0.20 0 0
CUI: C0267672
Disease: Bilateral inguinal hernia
Bilateral inguinal hernia 		2 0 1 0.17 0 0
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		2 0 1 0.17 0 0
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		2 0 1 0.17 0 0
CUI: C2931006
Disease: Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 1L 		2 0 1 0.17 0 0
CUI: C3278429
Disease: Bilateral elbow dislocations
Bilateral elbow dislocations 		2 0 1 0.17 0 0
CUI: C4025324
Disease: Abnormality of the cheek
Abnormality of the cheek 		2 0 1 0.17 0 0
CUI: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		17 0 3 0.16 0 0
CUI: C0241395
Disease: Spatulate thumbs
Spatulate thumbs 		3 0 1 0.14 0 0
CUI: C0268355
Disease: Cutis Laxa, Autosomal Recessive, Type IIA
Cutis Laxa, Autosomal Recessive, Type IIA 		3 0 1 0.14 0 0
CUI: C0342634
Disease: Neonatal hypocalcemia
Neonatal hypocalcemia 		3 0 1 0.14 0 0
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		3 0 1 0.14 0 0
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		3 0 1 0.14 0 0
CUI: C1861873
Disease: Multiple plantar creases
Multiple plantar creases 		3 0 1 0.14 0 0
CUI: C2037047
Disease: Subretinal pigment epithelium hemorrhage
Subretinal pigment epithelium hemorrhage 		3 0 1 0.14 0 0
CUI: C2675547
Disease: Slender long bones with narrow diaphyses
Slender long bones with narrow diaphyses 		3 0 1 0.14 0 0
CUI: C2721646
Disease: Aneurysm enlargement
Aneurysm enlargement 		3 0 1 0.14 0 0
CUI: C3278404
Disease: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 		3 0 1 0.14 0 0
CUI: C4024174
Disease: Broad distal phalanges of all fingers
Broad distal phalanges of all fingers 		3 0 1 0.14 0 0
CUI: C4476553
Disease: Atrial septal dilatation
Atrial septal dilatation 		3 0 1 0.14 0 0