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: C0151746
Disease: Abnormal renal function
Abnormal renal function
12 6 3 7.7E-02 5 0.33
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary
2 2 2 6.7E-02 2 0.14
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly
1 3 1 3.3E-02 2 0.13
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral
3 4 2 6.5E-02 2 0.12
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1
2 4 2 6.7E-02 2 0.12
CUI: C0340279
Disease: Ventricular hypertrophy
Ventricular hypertrophy
60 9 1 1.1E-02 2 9.5E-02
Congenital ocular coloboma (disorder)
129 21 17 0.12 3 9.4E-02
CUI: C0031039
Disease: Pericardial effusion
Pericardial effusion
98 10 1 7.9E-03 2 9.1E-02
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome
13 11 2 4.9E-02 2 8.7E-02
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
86 11 4 3.6E-02 2 8.7E-02
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder
227 14 2 7.8E-03 2 7.7E-02
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
9 16 1 2.6E-02 2 7.1E-02
CUI: C4021230
Disease: Ectopic lacrimal punctum
Ectopic lacrimal punctum
1 1 1 3.3E-02 1 7.1E-02
Unilateral conductive hearing impairment
1 1 1 3.3E-02 1 7.1E-02
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip
6 1 1 2.9E-02 1 7.1E-02
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
169 17 1 5.1E-03 2 6.9E-02
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct
7 2 1 2.8E-02 1 6.7E-02
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma
57 2 13 0.18 1 6.7E-02
CUI: C0339619
Disease: Congenital esotropia
Congenital esotropia
0 2 0 0 1 6.7E-02
Atresia of the external auditory canal
44 3 2 2.8E-02 1 6.2E-02
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina
58 3 14 0.19 1 6.2E-02
CUI: C0263498
Disease: Premature canities
Premature canities
33 4 1 1.6E-02 1 5.9E-02
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune
51 22 1 1.3E-02 2 5.9E-02
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
3 4 2 6.5E-02 1 5.9E-02
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5
7 32 2 5.7E-02 2 4.5E-02