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: C0004158
Disease: Athetosis
Athetosis 		0 3 0 0 1 2.0E-02
CUI: C0026961
Disease: Mydriasis
Mydriasis 		0 2 0 0 1 2.0E-02
CUI: C0030232
Disease: Pallor
Pallor 		0 4 0 0 1 1.9E-02
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		0 3 0 0 1 2.0E-02
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0 8 0 0 1 1.8E-02
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		0 4 0 0 1 1.9E-02
CUI: C0546884
Disease: Hypovolemia
Hypovolemia 		0 3 0 0 1 2.0E-02
CUI: C0576225
Disease: Long foot
Long foot 		0 3 0 0 1 2.0E-02
CUI: C1837732
Disease: Thickened helices
Thickened helices 		0 3 0 0 1 2.0E-02
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		0 1 0 0 1 2.0E-02
CUI: C1839783
Disease: Large forehead
Large forehead 		0 1 0 0 1 2.0E-02
CUI: C1843244
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 		0 10 0 0 1 1.7E-02
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		0 4 0 0 1 1.9E-02
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0 3 0 0 1 2.0E-02
CUI: C1857479
Disease: Short columella
Short columella 		0 5 0 0 1 1.9E-02
CUI: C1859481
Disease: Abnormal finger flexion creases
Abnormal finger flexion creases 		0 1 0 0 1 2.0E-02
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		0 13 0 0 1 1.6E-02
CUI: C3150613
Disease: Long toe
Long toe 		0 8 0 0 1 1.8E-02
CUI: C3276036
Disease: High anterior hairline
High anterior hairline 		0 3 0 0 1 2.0E-02
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		0 3 0 0 1 2.0E-02
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga 		0 3 0 0 1 2.0E-02
CUI: C4021603
Disease: Widely spaced primary teeth
Widely spaced primary teeth 		0 1 0 0 1 2.0E-02
CUI: C4024661
Disease: Abnormality of the vertebral spinous processes
Abnormality of the vertebral spinous processes 		0 1 0 0 1 2.0E-02
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		78 0 1 8.5E-03 0 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		45 0 1 1.2E-02 0 0