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: C4024950
Disease: Nonprogressive encephalopathy
Nonprogressive encephalopathy
1 0 1 1.00 0 0
CUI: C0432152
Disease: Thoracic hemivertebra
Thoracic hemivertebra
2 0 1 0.50 0 0
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
2 0 1 0.50 0 0
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
2 0 1 0.50 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly
12 0 1 8.3E-02 0 0
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation
12 0 1 8.3E-02 0 0
Abnormality of the respiratory system
16 0 1 6.2E-02 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs
20 0 1 5.0E-02 0 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
24 0 1 4.2E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
34 0 1 2.9E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation
40 0 1 2.5E-02 0 0
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord
40 0 1 2.5E-02 0 0
CUI: C1854912
Disease: Short long bone
Short long bone
42 0 1 2.4E-02 0 0
Degenerative Diseases, Central Nervous System
43 0 1 2.3E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
49 0 1 2.0E-02 0 0
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
52 0 1 1.9E-02 0 0
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
52 0 1 1.9E-02 0 0
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome
57 0 1 1.8E-02 0 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
57 0 1 1.8E-02 0 0
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder
64 0 1 1.6E-02 0 0
CUI: C0740404
Disease: Limb defects
Limb defects
67 0 1 1.5E-02 0 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
68 0 1 1.5E-02 0 0
Congenital sensorineural hearing loss
68 0 1 1.5E-02 0 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
69 0 1 1.4E-02 0 0
CUI: C0039231
Disease: Tachycardia
Tachycardia
73 0 1 1.4E-02 0 0