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: C3150969
Disease: MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED 7
1 0 1 1.00 0 0
CUI: C4022538
Disease: Cervical C3/C4 vertebral fusion
Cervical C3/C4 vertebral fusion
1 0 1 1.00 0 0
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
2 3 1 0.50 1 0.33
CUI: C4024163
Disease: Abnormal temporal bone morphology
Abnormal temporal bone morphology
2 0 1 0.50 0 0
CUI: C4025301
Disease: Cervical C5/C6 vertebrae fusion
Cervical C5/C6 vertebrae fusion
2 0 1 0.50 0 0
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
6 0 1 0.17 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1
8 0 1 0.12 0 0
Microphthalmia associated with colobomatous cyst
8 0 1 0.12 0 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder
8 0 1 0.12 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive
8 0 1 0.12 0 0
Abnormal vertebral segmentation and fusion
11 0 1 9.1E-02 0 0
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome
12 0 1 8.3E-02 0 0
CUI: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy
13 0 1 7.7E-02 0 0
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed
15 0 1 6.7E-02 0 0
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed
15 0 1 6.7E-02 0 0
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves
17 0 1 5.9E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology
17 0 1 5.9E-02 0 0
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal
18 0 1 5.6E-02 0 0
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis
19 0 1 5.3E-02 0 0
CUI: C0266231
Disease: Ectopic anus
Ectopic anus
20 0 1 5.0E-02 0 0
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis
21 0 1 4.8E-02 0 0
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia
22 0 1 4.5E-02 0 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis
23 0 1 4.3E-02 0 0
CUI: C0334520
Disease: Teratoma, Malignant
Teratoma, Malignant
25 0 1 4.0E-02 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
25 0 1 4.0E-02 0 0