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: C1842870
Disease: Chromosome 1p36 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome 		6 0 5 0.24 0 0
CUI: C4721788
Disease: Bifid ribs
Bifid ribs 		9 0 5 0.21 0 0
CUI: C3277019
Disease: Horizontal eyebrow
Horizontal eyebrow 		11 0 5 0.19 0 0
CUI: C4021822
Disease: Abnormality of female external genitalia
Abnormality of female external genitalia 		15 0 5 0.17 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 5 0.16 0 0
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		19 0 5 0.15 0 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine 		19 0 5 0.15 0 0
CUI: C0856748
Disease: Aneurysm of aortic arch
Aneurysm of aortic arch 		20 0 5 0.14 0 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		5 1 3 0.14 1 0.33
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 7 0.12 0 0
CUI: C1861329
Disease: Spinal canal stenosis
Spinal canal stenosis 		35 0 6 0.12 0 0
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		26 0 5 0.12 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 5 0.12 0 0
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		27 0 5 0.12 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		37 0 6 0.12 0 0
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		10 0 3 0.11 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 6 0.11 0 0
CUI: C0332573
Disease: Macule
Macule 		31 0 5 0.11 0 0
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		2 2 2 1.0E-01 1 0.25
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		2 3 2 1.0E-01 1 0.20
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular 		37 0 5 9.6E-02 0 0
CUI: C1850558
Disease: Horizontal sacrum
Horizontal sacrum 		3 0 2 9.5E-02 0 0
CUI: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		3 0 2 9.5E-02 0 0
CUI: C4024595
Disease: Abnormal ossification involving the femoral head and neck
Abnormal ossification involving the femoral head and neck 		3 0 2 9.5E-02 0 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		3 0 2 9.5E-02 0 0