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: C0003119
Disease: Anophthalmos
Anophthalmos 		89 6 18 0.14 1 0.12
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 11 0.11 0 0
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		129 0 16 9.5E-02 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 6 8.6E-02 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 6 8.6E-02 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 6 8.5E-02 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		35 0 7 8.4E-02 0 0
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		113 0 13 8.4E-02 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 15 8.0E-02 0 0
CUI: C0154823
Disease: Retinal defect
Retinal defect 		13 0 5 7.9E-02 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 5 7.6E-02 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 5 7.2E-02 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 5 7.2E-02 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 5 7.2E-02 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 6 7.2E-02 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 14 7.2E-02 0 0
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		5 0 4 7.1E-02 0 0
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 12 7.0E-02 0 0
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		22 0 5 6.9E-02 0 0
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		22 0 5 6.9E-02 0 0
CUI: C3714873
Disease: Axenfeld-Rieger Syndrome, Type 1
Axenfeld-Rieger Syndrome, Type 1 		7 0 4 6.9E-02 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		105 0 10 6.7E-02 0 0
CUI: C4015098
Disease: Hypoglycosylation of alpha-dystroglycan
Hypoglycosylation of alpha-dystroglycan 		10 0 4 6.6E-02 0 0
CUI: C4022646
Disease: Reduced muscle fiber alpha dystroglycan
Reduced muscle fiber alpha dystroglycan 		10 0 4 6.6E-02 0 0
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		27 0 5 6.5E-02 0 0