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: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR 		2 0 2 0.25 0 0
CUI: C1866207
Disease: Dysplastic aortic valve
Dysplastic aortic valve 		3 0 2 0.22 0 0
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		3 0 2 0.22 0 0
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		3 0 2 0.22 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 2 0.20 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		4 0 2 0.20 0 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		4 0 2 0.20 0 0
CUI: C0266614
Disease: Bat ear
Bat ear 		5 0 2 0.18 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		5 0 2 0.18 0 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 2 0.17 0 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 0 2 0.15 0 0
CUI: C0220692
Disease: Maxillonasal dysplasia, Binder type
Maxillonasal dysplasia, Binder type 		1 0 1 0.12 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 0.12 0 0
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus 		1 0 1 0.12 0 0
CUI: C0266692
Disease: Craniopagus
Craniopagus 		1 0 1 0.12 0 0
CUI: C0349398
Disease: Paranoid delusion
Paranoid delusion 		1 0 1 0.12 0 0
CUI: C0431501
Disease: Bilateral arterial duct
Bilateral arterial duct 		1 0 1 0.12 0 0
CUI: C0431879
Disease: Brachymesophalangia
Brachymesophalangia 		1 0 1 0.12 0 0
CUI: C0432240
Disease: Stuve-Wiedemann dysplasia
Stuve-Wiedemann dysplasia 		1 0 1 0.12 0 0
CUI: C0457928
Disease: Bent bone dysplasia group
Bent bone dysplasia group 		1 0 1 0.12 0 0
CUI: C0795829
Disease: Chromosome 8, trisomy 8q
Chromosome 8, trisomy 8q 		1 0 1 0.12 0 0
CUI: C1832146
Disease: Metaphyseal rarefaction
Metaphyseal rarefaction 		1 0 1 0.12 0 0
CUI: C1846061
Disease: Infancy onset short-trunk short stature
Infancy onset short-trunk short stature 		1 0 1 0.12 0 0
CUI: C1857139
Disease: Abnormal metaphyseal trabeculation
Abnormal metaphyseal trabeculation 		1 0 1 0.12 0 0
CUI: C3552136
Disease: HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA 		1 0 1 0.12 0 0