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: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		50 0 18 0.15 0 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue 		36 0 16 0.15 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 16 0.15 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 14 0.15 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 13 0.14 0 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 13 0.14 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 14 0.14 0 0
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		55 3 18 0.14 1 0.12
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 18 0.14 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 13 0.14 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 16 0.14 0 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		58 0 18 0.14 0 0
CUI: C0002902
Disease: Anencephaly
Anencephaly 		59 0 18 0.14 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 18 0.14 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		84 0 21 0.14 0 0
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		53 0 17 0.14 0 0
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		38 0 15 0.13 0 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		57 0 17 0.13 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		23 0 13 0.13 0 0
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		108 0 22 0.13 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 20 0.12 0 0
CUI: C1301937
Disease: Talipes
Talipes 		74 0 18 0.12 0 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		97 0 20 0.12 0 0
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		219 0 33 0.12 0 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		35 0 13 0.12 0 0