Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
1 0 1 0.50 0 0
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
1 0 1 0.50 0 0
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18
1 0 1 0.50 0 0
CUI: C4024776
Disease: Reticular retinal dystrophy
Reticular retinal dystrophy
1 0 1 0.50 0 0
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1
1 16 1 0.50 2 0.11
CUI: C0730366
Disease: Rod dystrophy
Rod dystrophy
2 0 1 0.33 0 0
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic
2 0 1 0.33 0 0
CUI: C4288779
Disease: Major Congenital Anomaly
Major Congenital Anomaly
2 0 1 0.33 0 0
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
3 0 1 0.25 0 0
Patterned dystrophy of retinal pigment epithelium
3 0 1 0.25 0 0
Foveal photoreceptor outer segment loss on macular OCT
3 0 1 0.25 0 0
CUI: C4082761
Disease: Abnormality of limb bone morphology
Abnormality of limb bone morphology
3 0 1 0.25 0 0
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
3 0 1 0.25 0 0
CUI: C0339513
Disease: Dominant drusen
Dominant drusen
4 2 1 0.20 1 0.17
CUI: C1320640
Disease: Peripheral retinal degeneration
Peripheral retinal degeneration
4 0 1 0.20 0 0
CUI: C1852548
Disease: Absent retinal pigment epithelium
Absent retinal pigment epithelium
4 0 1 0.20 0 0
Juvenile-Onset Vitelliform Macular Dystrophy
4 0 1 0.20 0 0
CUI: C4024762
Disease: Pattern dystrophy of the retina
Pattern dystrophy of the retina
4 0 1 0.20 0 0
CUI: C4024817
Disease: Vitelliform-like macular lesions
Vitelliform-like macular lesions
4 0 1 0.20 0 0
CUI: C4072991
Disease: Yellow/white lesions of the retina
Yellow/white lesions of the retina
4 0 1 0.20 0 0
CUI: C4073101
Disease: Hyperautofluorescent macular lesion
Hyperautofluorescent macular lesion
4 0 1 0.20 0 0
CUI: C0158940
Disease: Transitory tachypnea of newborn
Transitory tachypnea of newborn
5 0 1 0.17 0 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy
5 0 1 0.17 0 0
CUI: C4024790
Disease: Adult-onset night blindness
Adult-onset night blindness
5 0 1 0.17 0 0
CUI: C4025849
Disease: Abnormal foveal morphology
Abnormal foveal morphology
5 0 1 0.17 0 0