Source: CLINVAR ×
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: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		1 25 1 1.00 1 4.0E-02
CUI: C4293686
Disease: Periventricular white matter hyperdensities
Periventricular white matter hyperdensities 		1 0 1 1.00 0 0
CUI: C0003537
Disease: Aphasia
Aphasia 		2 0 1 0.50 0 0
CUI: C4021076
Disease: Iron accumulation in brain
Iron accumulation in brain 		2 0 1 0.50 0 0
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		3 0 1 0.33 0 0
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		4 0 1 0.25 0 0
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		5 0 1 0.20 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		5 5 1 0.20 1 0.20
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		6 0 1 0.17 0 0
CUI: C1837463
Disease: Narrow face
Narrow face 		6 0 1 0.17 0 0
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		7 0 1 0.14 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		7 0 1 0.14 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		10 0 1 1.0E-01 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		12 13 1 8.3E-02 1 7.7E-02
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 0 1 8.3E-02 0 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		13 0 1 7.7E-02 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		13 16 1 7.7E-02 1 6.2E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		14 18 1 7.1E-02 1 5.6E-02
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		14 0 1 7.1E-02 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		15 0 1 6.7E-02 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 1 6.7E-02 1 6.2E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 1 6.7E-02 1 7.1E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		16 0 1 6.2E-02 0 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		16 0 1 6.2E-02 0 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		17 0 1 5.9E-02 0 0