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: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 15 0.11 0 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		103 0 23 0.11 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 36 0.11 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 16 0.11 0 0
CUI: C0221365
Disease: Double ureter
Double ureter 		34 0 16 0.11 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		26 0 15 0.11 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 14 0.11 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 16 0.11 0 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		27 0 15 0.11 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		100 0 22 0.11 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 29 0.11 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 14 0.10 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 14 0.10 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 14 0.10 0 0
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		41 0 16 0.10 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		105 104 22 0.10 7 6.5E-02
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 23 0.10 0 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		63 0 18 0.10 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 14 0.10 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 17 0.10 0 0
CUI: C0027092
Disease: Myopia
Myopia 		490 0 57 0.10 0 0
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		35 0 15 0.10 0 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 78 0.10 1 1.1E-02
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 13 1.0E-01 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 15 1.0E-01 0 0