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 0 24 9.5E-02 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
473 37 57 9.4E-02 1 1.3E-02
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
44 0 20 9.4E-02 0 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
21 0 18 9.4E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
590 0 67 9.4E-02 0 0
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
59 0 21 9.3E-02 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly
37 0 19 9.2E-02 0 0
CUI: C0521525
Disease: Short neck
Short neck
288 0 40 9.2E-02 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
63 0 21 9.1E-02 0 0
Abnormal form of the vertebral bodies
89 0 23 9.1E-02 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1
53 38 20 9.0E-02 2 2.5E-02
CUI: C0266631
Disease: Accessory spleen
Accessory spleen
41 0 19 9.0E-02 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 0 50 9.0E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
321 0 42 9.0E-02 0 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
92 0 23 8.9E-02 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
20 31 17 8.9E-02 1 1.4E-02
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
20 65 17 8.9E-02 1 9.3E-03
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
69 0 21 8.9E-02 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
219 227 33 8.8E-02 3 1.1E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
96 0 23 8.8E-02 0 0
CUI: C4021813
Disease: Oral cleft
Oral cleft
85 0 22 8.8E-02 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
284 0 38 8.8E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis
49 0 19 8.7E-02 0 0
CUI: C1301937
Disease: Talipes
Talipes
74 0 21 8.7E-02 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
586 53 62 8.7E-02 2 2.1E-02