Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Neutral Lipid Storage Disease with Myopathy
6 0 6 0.10 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
6 0 6 0.10 0 0
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
39 0 9 0.10 0 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
7 0 6 1.0E-01 0 0
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
12 0 6 9.2E-02 0 0
Medium-chain acyl-coenzyme A dehydrogenase deficiency
15 0 6 8.8E-02 0 0
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5
5 0 5 8.5E-02 0 0
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele
33 0 7 8.2E-02 0 0
CUI: C0853877
Disease: Fistula of genitourinary tract
Fistula of genitourinary tract
11 0 5 7.7E-02 0 0
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
434 138 35 7.6E-02 4 1.6E-02
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities
12 0 5 7.6E-02 0 0
Triglyceride storage disease with ichthyosis
41 0 7 7.5E-02 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly
14 0 5 7.4E-02 0 0
Very long chain acyl-CoA dehydrogenase deficiency
15 0 5 7.2E-02 0 0
Abnormality of female internal genitalia
31 0 6 7.1E-02 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
19 0 5 6.8E-02 0 0
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
4 0 4 6.8E-02 0 0
CUI: C0549393
Disease: Alcohol problem
Alcohol problem
23 0 5 6.5E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation
40 0 6 6.5E-02 0 0
Abnormality of the intervertebral disk
30 0 5 6.0E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
49 0 6 5.9E-02 0 0
CUI: C0426789
Disease: Short thorax
Short thorax
51 0 6 5.8E-02 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput
53 0 6 5.7E-02 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses
16 0 4 5.6E-02 0 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs
37 0 5 5.5E-02 0 0