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: C4024163
Disease: Abnormal temporal bone morphology
Abnormal temporal bone morphology 		2 0 2 1.00 0 0
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		1 0 1 0.50 0 0
CUI: C3150967
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 		1 1 1 0.50 1 0.33
CUI: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7 		1 0 1 0.50 0 0
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		1 4 1 0.50 1 0.17
CUI: C4022510
Disease: Cervicomedullary schisis
Cervicomedullary schisis 		1 0 1 0.50 0 0
CUI: C4022538
Disease: Cervical C3/C4 vertebral fusion
Cervical C3/C4 vertebral fusion 		1 0 1 0.50 0 0
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		1 0 1 0.50 0 0
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		6 0 2 0.33 0 0
CUI: C4025301
Disease: Cervical C5/C6 vertebrae fusion
Cervical C5/C6 vertebrae fusion 		2 0 1 0.33 0 0
CUI: C1835450
Disease: Leri pleonosteosis
Leri pleonosteosis 		3 0 1 0.25 0 0
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		8 0 2 0.25 0 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		8 0 2 0.25 0 0
CUI: C4274282
Disease: Nanophthalmia
Nanophthalmia 		3 0 1 0.25 0 0
CUI: C4025167
Disease: Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion 		11 0 2 0.18 0 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		12 0 2 0.17 0 0
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		5 0 1 0.17 0 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		5 0 1 0.17 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		17 0 2 0.12 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 2 0.12 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		8 0 1 0.11 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		8 0 1 0.11 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		19 0 2 0.11 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus 		20 0 2 1.0E-01 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		25 0 2 8.0E-02 0 0