Source: ALL
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: C0043379
Disease: XYY Karyotype
XYY Karyotype 		1 0 1 0.17 0 0
CUI: C0152112
Disease: Foster-Kennedy Syndrome
Foster-Kennedy Syndrome 		1 0 1 0.17 0 0
CUI: C0432361
Disease: Diffuse neurofibroma
Diffuse neurofibroma 		1 0 1 0.17 0 0
CUI: C0563632
Disease: Manifest-latent nystagmus
Manifest-latent nystagmus 		1 0 1 0.17 0 0
CUI: C0751402
Disease: Optic Disk Disorders
Optic Disk Disorders 		1 0 1 0.17 0 0
CUI: C1319016
Disease: Nephrogenic rest, intralobar
Nephrogenic rest, intralobar 		1 0 1 0.17 0 0
CUI: C1837026
Disease: MEACHAM SYNDROME (disorder)
MEACHAM SYNDROME (disorder) 		1 3 1 0.17 2 0.11
CUI: C1860268
Disease: Gonadal tissue inappropriate for external genitalia or chromosomal sex
Gonadal tissue inappropriate for external genitalia or chromosomal sex 		1 0 1 0.17 0 0
CUI: C1861937
Disease: Anterior tibial bowing
Anterior tibial bowing 		1 0 1 0.17 0 0
CUI: C1865783
Disease: Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 		1 0 1 0.17 0 0
CUI: C2315667
Disease: Fetal microcephaly
Fetal microcephaly 		1 0 1 0.17 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 0 1 0.17 0 0
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
46,Xy True Hermaphroditism, Sry-Related 		1 0 1 0.17 0 0
CUI: C2931644
Disease: O'Donnell Pappas syndrome
O'Donnell Pappas syndrome 		1 0 1 0.17 0 0
CUI: C3151568
Disease: NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 4 		1 9 1 0.17 4 0.18
CUI: C3640024
Disease: Unilateral microphthalmos
Unilateral microphthalmos 		1 0 1 0.17 0 0
CUI: C3805349
Disease: CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 		1 0 1 0.17 0 0
CUI: C4017065
Disease: Autosomal dominant keratitis
Autosomal dominant keratitis 		1 0 1 0.17 0 0
CUI: C4017066
Disease: ANIRIDIA, ATYPICAL
ANIRIDIA, ATYPICAL 		1 0 1 0.17 0 0
CUI: C4017067
Disease: FOVEAL HYPOPLASIA 1 WITH CATARACT
FOVEAL HYPOPLASIA 1 WITH CATARACT 		1 0 1 0.17 0 0
CUI: C4017657
Disease: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES 		1 0 1 0.17 0 0
CUI: C4020788
Disease: Xy female gonadal dysgenesis
Xy female gonadal dysgenesis 		1 0 1 0.17 0 0
CUI: C4024670
Disease: Poorly ossified cervical vertebrae
Poorly ossified cervical vertebrae 		1 0 1 0.17 0 0
CUI: C4025257
Disease: Shortening of all phalanges of the toes
Shortening of all phalanges of the toes 		1 0 1 0.17 0 0
CUI: C4310841
Disease: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 		1 0 1 0.17 0 0