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: C1832823
Disease: Klippel-Feil anomaly
Klippel-Feil anomaly
1 0 1 0.50 0 0
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
1 0 1 0.50 0 0
CUI: C0575170
Disease: Cervical kyphosis
Cervical kyphosis
3 0 1 0.25 0 0
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus
3 1 1 0.25 1 0.25
Autosomal dominant spondylocostal dysostosis
3 0 1 0.25 0 0
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
4 0 1 0.20 0 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion
5 0 1 0.17 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
5 0 1 0.17 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
6 0 1 0.14 0 0
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
6 0 1 0.14 0 0
CUI: C0265301
Disease: Sclerosteosis
Sclerosteosis
7 0 1 0.12 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
7 0 1 0.12 0 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder
8 0 1 0.11 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
11 0 1 8.3E-02 0 0
Abnormal vertebral segmentation and fusion
11 0 1 8.3E-02 0 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome
12 0 1 7.7E-02 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
12 0 1 7.7E-02 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities
12 0 1 7.7E-02 0 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae
13 0 1 7.1E-02 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly
14 0 1 6.7E-02 0 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae
15 0 1 6.2E-02 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves
17 0 1 5.6E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
17 0 1 5.6E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
19 0 1 5.0E-02 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
19 0 1 5.0E-02 0 0