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 0.67 0 0
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		3 0 2 0.50 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 2 0.40 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		4 0 2 0.40 0 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		4 0 2 0.40 0 0
CUI: C0220692
Disease: Maxillonasal dysplasia, Binder type
Maxillonasal dysplasia, Binder type 		1 0 1 0.33 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 0.33 0 0
CUI: C0266384
Disease: Congenital absence of uterus
Congenital absence of uterus 		1 0 1 0.33 0 0
CUI: C0266614
Disease: Bat ear
Bat ear 		5 0 2 0.33 0 0
CUI: C0266692
Disease: Craniopagus
Craniopagus 		1 0 1 0.33 0 0
CUI: C0405124
Disease: Nuchal Cord
Nuchal Cord 		1 0 1 0.33 0 0
CUI: C0795829
Disease: Chromosome 8, trisomy 8q
Chromosome 8, trisomy 8q 		1 0 1 0.33 0 0
CUI: C3552136
Disease: HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA 		1 0 1 0.33 0 0
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		1 0 1 0.33 0 0
CUI: C4023278
Disease: Left aortic arch with retroesophageal right subclavian artery
Left aortic arch with retroesophageal right subclavian artery 		1 0 1 0.33 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		5 0 2 0.33 0 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 2 0.29 0 0
CUI: C0343643
Disease: Facial wart
Facial wart 		2 0 1 0.25 0 0
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		2 0 1 0.25 0 0
CUI: C1849735
Disease: Underfolded helix
Underfolded helix 		2 0 1 0.25 0 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 0 2 0.25 0 0
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss 		2 0 1 0.25 0 0
CUI: C4319808
Disease: Trisomy 13 Syndrome
Trisomy 13 Syndrome 		2 0 1 0.25 0 0
CUI: C1832127
Disease: Square face
Square face 		8 0 2 0.22 0 0
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		3 0 1 0.20 0 0