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: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		11 0 3 8.3E-02 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		129 21 12 8.3E-02 1 4.0E-02
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		92 0 9 8.1E-02 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		67 0 7 8.0E-02 0 0
CUI: C1735591
Disease: VACTERL Association
VACTERL Association 		15 0 3 7.5E-02 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 7 7.4E-02 0 0
CUI: C0265837
Disease: Congenital hypoplasia of tricuspid valve
Congenital hypoplasia of tricuspid valve 		2 1 2 7.1E-02 1 0.20
CUI: C4025876
Disease: Abnormality of the fontanelles or cranial sutures
Abnormality of the fontanelles or cranial sutures 		2 0 2 7.1E-02 0 0
CUI: C1867131
Disease: Broad hallux
Broad hallux 		48 14 5 7.0E-02 1 5.6E-02
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 7 7.0E-02 0 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		18 0 3 7.0E-02 0 0
CUI: C3554612
Disease: Contracture of the proximal interphalangeal joint of the 5th finger
Contracture of the proximal interphalangeal joint of the 5th finger 		3 0 2 6.9E-02 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 8 6.8E-02 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 12 6.8E-02 0 0
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		35 0 4 6.8E-02 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 2 6.7E-02 0 0
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		4 0 2 6.7E-02 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 11 6.7E-02 0 0
CUI: C1511104
Disease: Benign Struma Ovarii
Benign Struma Ovarii 		5 0 2 6.5E-02 0 0
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		5 0 2 6.5E-02 0 0
CUI: C1848599
Disease: VACTERL Association With Hydrocephalus
VACTERL Association With Hydrocephalus 		5 0 2 6.5E-02 0 0
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		5 0 2 6.5E-02 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		5 0 2 6.5E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		55 0 5 6.4E-02 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 9 6.4E-02 0 0