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: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		2 0 2 1.00 0 0
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria 		1 0 1 0.50 0 0
CUI: C4024950
Disease: Nonprogressive encephalopathy
Nonprogressive encephalopathy 		1 0 1 0.50 0 0
CUI: C0432152
Disease: Thoracic hemivertebra
Thoracic hemivertebra 		2 1 1 0.33 1 0.33
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		3 0 1 0.25 0 0
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		4 0 1 0.20 0 0
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		4 0 1 0.20 0 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		5 0 1 0.17 0 0
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		8 0 1 0.11 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 3 2 1.0E-01 1 0.20
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		11 0 1 8.3E-02 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		12 5 1 7.7E-02 1 0.14
CUI: C3808046
Disease: Breathing dysregulation
Breathing dysregulation 		12 0 1 7.7E-02 0 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		13 0 1 7.1E-02 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		15 0 1 6.2E-02 0 0
CUI: C4018871
Disease: Abnormality of the respiratory system
Abnormality of the respiratory system 		16 0 1 5.9E-02 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 1 5.9E-02 0 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		18 0 1 5.3E-02 0 0
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		40 6 2 5.0E-02 3 0.50
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		24 0 1 4.0E-02 0 0
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		52 7 2 3.8E-02 2 0.25
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		57 0 2 3.5E-02 0 0
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		28 0 1 3.4E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 5 1 2.9E-02 1 0.14
CUI: C1301937
Disease: Talipes
Talipes 		74 0 2 2.7E-02 0 0