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: C1840238
Disease: Midnasal stenosis
Midnasal stenosis 		16 0 16 0.80 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		17 0 15 0.68 0 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		16 0 14 0.64 0 0
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		35 0 16 0.41 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 16 0.37 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 15 0.36 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 16 0.31 0 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		73 0 16 0.21 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 18 0.20 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 16 0.19 0 0
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 4 (disorder) 		3 0 3 0.15 0 0
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		3 0 3 0.15 0 0
CUI: C4021638
Disease: Absent nasal septal cartilage
Absent nasal septal cartilage 		3 0 3 0.15 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 16 0.15 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 7 0.15 0 0
CUI: C3711749
Disease: Nonsyndromic Holoprosencephaly
Nonsyndromic Holoprosencephaly 		4 0 3 0.14 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 16 0.14 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 16 0.14 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 16 0.14 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 16 0.13 0 0
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix 		6 0 3 0.13 0 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		15 0 4 0.13 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		7 0 3 0.12 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 17 0.11 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 17 0.11 0 0