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: C4023395
Disease: Patchy hypopigmentation of hair
Patchy hypopigmentation of hair 		3 0 3 0.27 0 0
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		6 0 3 0.21 0 0
CUI: C1860344
Disease: Hypoplastic iris stroma
Hypoplastic iris stroma 		7 0 3 0.20 0 0
CUI: C4021567
Disease: Central heterochromia
Central heterochromia 		7 0 3 0.20 0 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		8 0 3 0.19 0 0
CUI: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome 		2 0 2 0.18 0 0
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		2 0 2 0.18 0 0
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		2 0 2 0.18 0 0
CUI: C4023156
Disease: Abnormality of the wing of the ilium
Abnormality of the wing of the ilium 		2 0 2 0.18 0 0
CUI: C4024163
Disease: Abnormal temporal bone morphology
Abnormal temporal bone morphology 		2 0 2 0.18 0 0
CUI: C0751083
Disease: Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 2 		3 0 2 0.17 0 0
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		3 0 2 0.17 0 0
CUI: C0994516
Disease: Type 1 Duane Retraction Syndrome
Type 1 Duane Retraction Syndrome 		3 0 2 0.17 0 0
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		4 0 2 0.15 0 0
CUI: C4024660
Disease: Aplasia/Hypoplasia of the sacrum
Aplasia/Hypoplasia of the sacrum 		4 0 2 0.15 0 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		12 0 3 0.15 0 0
CUI: C1859212
Disease: Limited neck range of motion
Limited neck range of motion 		5 0 2 0.14 0 0
CUI: C4024669
Disease: Asymmetry of spinal facet joints
Asymmetry of spinal facet joints 		5 0 2 0.14 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 3 0.14 0 0
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		31 0 5 0.14 0 0
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		6 0 2 0.13 0 0
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		15 0 3 0.13 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		17 0 3 0.12 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 3 0.12 0 0
CUI: C2931501
Disease: Microphthalmia associated with colobomatous cyst
Microphthalmia associated with colobomatous cyst 		8 0 2 0.12 0 0