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: C0221360
Disease: Congenital absence of diaphragm
Congenital absence of diaphragm 		1 0 1 0.50 0 0
CUI: C1856017
Disease: Adrenal gland dysgenesis
Adrenal gland dysgenesis 		1 0 1 0.50 0 0
CUI: C1856027
Disease: Cleft in skull base
Cleft in skull base 		1 0 1 0.50 0 0
CUI: C1856029
Disease: Proximal tibial hypoplasia
Proximal tibial hypoplasia 		1 0 1 0.50 0 0
CUI: C4748320
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 		1 0 1 0.50 0 0
CUI: C4310745
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 		2 0 1 0.33 0 0
CUI: C0426489
Disease: Gingival cleft
Gingival cleft 		3 0 1 0.25 0 0
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
HYDROLETHALUS SYNDROME 1 		3 0 1 0.25 0 0
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		3 5 1 0.25 1 0.20
CUI: C0265766
Disease: Congenital atresia of trachea
Congenital atresia of trachea 		4 0 1 0.20 0 0
CUI: C2931104
Disease: Hydrolethalus syndrome
Hydrolethalus syndrome 		5 0 1 0.17 0 0
CUI: C1850327
Disease: Bifid uterus
Bifid uterus 		6 0 1 0.14 0 0
CUI: C1860164
Disease: Duplication of phalanx of hallux
Duplication of phalanx of hallux 		6 0 1 0.14 0 0
CUI: C0431527
Disease: Laryngeal hypoplasia
Laryngeal hypoplasia 		7 0 1 0.12 0 0
CUI: C0221363
Disease: Bifid nose
Bifid nose 		9 0 1 1.0E-01 0 0
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		9 0 1 1.0E-01 0 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		12 0 1 7.7E-02 0 0
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		14 0 1 6.7E-02 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 1 6.7E-02 0 0
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		14 0 1 6.7E-02 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 1 6.7E-02 0 0
CUI: C1850256
Disease: Median cleft lip
Median cleft lip 		15 0 1 6.2E-02 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 0 1 6.2E-02 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 1 5.9E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 5.6E-02 0 0