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 0.41 0 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		20 0 16 0.37 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		17 0 15 0.37 0 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		16 0 14 0.34 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 17 0.29 0 0
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		35 0 16 0.28 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 17 0.25 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 24 0.19 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 22 0.17 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 19 0.17 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 17 0.17 0 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		73 0 16 0.17 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 21 0.16 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 20 0.16 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 23 0.14 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 23 0.14 0 0
CUI: C2931286
Disease: Warburton Anyane Yeboa syndrome
Warburton Anyane Yeboa syndrome 		5 0 5 0.13 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 16 0.12 0 0
CUI: C0340375
Disease: Subaortic stenosis
Subaortic stenosis 		19 0 6 0.12 0 0
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		59 0 10 0.11 0 0
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		10 0 5 0.11 0 0
CUI: C0042258
Disease: Vaginal Neoplasms
Vaginal Neoplasms 		13 0 5 0.11 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 7 0.10 0 0
CUI: C4551972
Disease: Mosaic variegated aneuploidy syndrome
Mosaic variegated aneuploidy syndrome 		5 0 4 1.0E-01 0 0
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		30 0 6 9.5E-02 0 0