Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
2 0 2 0.67 0 0
Progressive extrapyramidal movement disorder
9 0 2 0.20 0 0
CUI: C4699189
Disease: Nonprogressive/congenital
Nonprogressive/congenital
3 0 1 0.20 0 0
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome
15 0 2 0.12 0 0
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia
8 0 1 1.0E-01 0 0
CUI: C2749515
Disease: Collapsing glomerulopathy
Collapsing glomerulopathy
10 0 1 8.3E-02 0 0
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge
11 0 1 7.7E-02 0 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage
14 0 1 6.2E-02 0 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris
19 0 1 4.8E-02 0 0
CUI: C1857482
Disease: Slender finger
Slender finger
20 0 1 4.5E-02 0 0
Diffuse mesangial sclerosis (disorder)
22 0 1 4.2E-02 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching
26 0 1 3.6E-02 0 0
Abnormality of the intervertebral disk
30 0 1 3.1E-02 0 0
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis
34 0 1 2.8E-02 0 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia
39 0 1 2.4E-02 0 0
Abnormality of immune system physiology
42 0 1 2.3E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput
45 0 1 2.1E-02 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities
46 0 1 2.1E-02 0 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
106 0 2 1.9E-02 0 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
55 0 1 1.8E-02 0 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem
55 0 1 1.8E-02 0 0
Aplasia/Hypoplasia of the cerebellum
116 0 2 1.7E-02 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder)
60 0 1 1.6E-02 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
62 0 1 1.6E-02 0 0
CUI: C0426415
Disease: Large nose
Large nose
70 0 1 1.4E-02 0 0