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: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		6 0 5 0.25 0 0
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		7 0 5 0.24 0 0
CUI: C4021631
Disease: Abnormal tracheobronchial morphology
Abnormal tracheobronchial morphology 		4 0 4 0.21 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract 		11 0 5 0.20 0 0
CUI: C1844007
Disease: Corticospinal tract hypoplasia
Corticospinal tract hypoplasia 		5 0 4 0.20 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		5 0 4 0.20 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		12 0 5 0.19 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 5 0.19 0 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth 		14 0 5 0.18 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		14 0 5 0.18 0 0
CUI: C1864794
Disease: Abnormality of the odontoid process
Abnormality of the odontoid process 		3 0 3 0.16 0 0
CUI: C2748652
Disease: Large face
Large face 		11 0 4 0.15 0 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae 		4 0 3 0.15 0 0
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		4 0 3 0.15 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		16 0 4 0.13 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 8 0.12 0 0
CUI: C0034880
Disease: Hyperacusis
Hyperacusis 		20 0 4 0.11 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 5 0.11 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 0 6 0.11 0 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		41 0 6 0.11 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 5 0.11 0 0
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		42 0 6 0.11 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		33 0 5 0.11 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 10 0.10 0 0
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		3 0 2 1.0E-01 0 0