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: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		3 13 3 9.4E-02 1 7.1E-02
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		3 0 3 9.4E-02 0 0
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		3 0 3 9.4E-02 0 0
CUI: C4023395
Disease: Patchy hypopigmentation of hair
Patchy hypopigmentation of hair 		3 0 3 9.4E-02 0 0
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		4 0 3 9.1E-02 0 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		6 0 3 8.6E-02 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 7 8.5E-02 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 7 8.4E-02 0 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		7 0 3 8.3E-02 0 0
CUI: C4021567
Disease: Central heterochromia
Central heterochromia 		7 0 3 8.3E-02 0 0
CUI: C0028866
Disease: Oculomotor Nerve Paralysis
Oculomotor Nerve Paralysis 		22 0 4 8.0E-02 0 0
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1 		49 0 6 8.0E-02 0 0
CUI: C0028850
Disease: Ocular Motility Disorders
Ocular Motility Disorders 		9 0 3 7.9E-02 0 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		23 0 4 7.8E-02 0 0
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		37 0 5 7.8E-02 0 0
CUI: C1405984
Disease: Absent radius
Absent radius 		24 0 4 7.7E-02 0 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 0 6 7.6E-02 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 4 7.5E-02 0 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		11 0 3 7.5E-02 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 5 7.4E-02 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		12 0 3 7.3E-02 0 0
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		27 0 4 7.3E-02 0 0
CUI: C0234362
Disease: Synkinesis
Synkinesis 		13 0 3 7.1E-02 0 0
CUI: C0262374
Disease: Stricture of anus
Stricture of anus 		28 0 4 7.1E-02 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 3 7.0E-02 0 0