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: C0013393
Disease: Dysostoses
Dysostoses
1 0 1 1.0E-01 0 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
1 0 1 1.0E-01 0 0
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome
1 0 1 1.0E-01 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
1 0 1 1.0E-01 0 0
CUI: C0240583
Disease: Short upturned nose
Short upturned nose
1 0 1 1.0E-01 0 0
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus
1 0 1 1.0E-01 0 0
Qualitative abnormality of granulocyte
1 0 1 1.0E-01 0 0
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome
1 0 1 1.0E-01 0 0
CUI: C0751402
Disease: Optic Disk Disorders
Optic Disk Disorders
1 0 1 1.0E-01 0 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
1 0 1 1.0E-01 0 0
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis
1 0 1 1.0E-01 0 0
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome
1 0 1 1.0E-01 0 0
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral
1 0 1 1.0E-01 0 0
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary
1 0 1 1.0E-01 0 0
Progressive sensorineural hearing impairment
1 0 1 1.0E-01 0 0
Mental Retardation, Autosomal Recessive 2
1 0 1 1.0E-01 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
1 0 1 1.0E-01 0 0
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia
1 0 1 1.0E-01 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure
1 0 1 1.0E-01 0 0
CUI: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
1 0 1 1.0E-01 0 0
CUI: C1855995
Disease: L-2-HYDROXYGLUTARIC ACIDURIA
L-2-HYDROXYGLUTARIC ACIDURIA
1 0 1 1.0E-01 0 0
Autosomal recessive facio-digito-genital syndrome
1 0 1 1.0E-01 0 0
CUI: C1858042
Disease: Becker Nevus Syndrome
Becker Nevus Syndrome
1 0 1 1.0E-01 0 0
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20
1 0 1 1.0E-01 0 0
Facial paresis, hereditary, congenital
1 0 1 1.0E-01 0 0