Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
2 0 2 0.40 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1
8 0 3 0.30 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive
8 0 3 0.30 0 0
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine
5 0 2 0.25 0 0
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations
7 0 2 0.20 0 0
CUI: C0043379
Disease: XYY Karyotype
XYY Karyotype
1 0 1 0.20 0 0
CUI: C1266176
Disease: Atypical choroid plexus papilloma
Atypical choroid plexus papilloma
1 0 1 0.20 0 0
CUI: C1333100
Disease: Squamous cell carcinoma of colon
Squamous cell carcinoma of colon
1 0 1 0.20 0 0
Microphthalmia, Isolated, with Cataract 2
1 0 1 0.20 0 0
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5
1 0 1 0.20 0 0
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
1 0 1 0.20 0 0
46,Xy True Hermaphroditism, Sry-Related
1 0 1 0.20 0 0
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
1 0 1 0.20 0 0
CUI: C3804969
Disease: Dysgnathia
Dysgnathia
1 0 1 0.20 0 0
CUI: C4020788
Disease: Xy female gonadal dysgenesis
Xy female gonadal dysgenesis
1 0 1 0.20 0 0
CUI: C4305151
Disease: Syndromic microphthalmia type 5
Syndromic microphthalmia type 5
1 0 1 0.20 0 0
CUI: C0265496
Disease: Tetrasomy X
Tetrasomy X
2 0 1 0.17 0 0
CUI: C0266677
Disease: Synotus
Synotus
2 0 1 0.17 0 0
Keratoderma with scleroatrophy of the extremities
2 0 1 0.17 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite
2 0 1 0.17 0 0
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
RETINITIS PIGMENTOSA 33 (disorder)
2 0 1 0.17 0 0
Microphthalmia and mental deficiency
9 0 2 0.17 0 0
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15
2 0 1 0.17 0 0
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
2 0 1 0.17 0 0
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
2 0 1 0.17 0 0