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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		28 0 1 1.9E-02 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 0 1 1.9E-02 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		28 0 1 1.9E-02 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 0 1 2.0E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		128 164 3 2.0E-02 1 2.9E-03
CUI: C0028754
Disease: Obesity
Obesity 		24 0 1 2.0E-02 0 0
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		23 25 1 2.0E-02 1 4.9E-03
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 0 1 2.0E-02 0 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		23 0 1 2.0E-02 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 0 1 2.0E-02 0 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 2.1E-02 0 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		21 0 1 2.1E-02 0 0
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		21 0 1 2.1E-02 0 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		21 0 1 2.1E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		20 33 1 2.2E-02 1 4.7E-03
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		19 0 1 2.2E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 0 1 2.2E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 2.3E-02 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 2 2.3E-02 1 3.9E-03
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 2.3E-02 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 0 1 2.3E-02 0 0
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		18 27 1 2.3E-02 1 4.9E-03
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 2.3E-02 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 22 1 2.3E-02 1 5.0E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 0 2 2.3E-02 0 0