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 0.46 0 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		20 0 16 0.41 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		17 0 15 0.41 0 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		16 0 14 0.38 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 16 0.28 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 15 0.26 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 16 0.24 0 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		73 0 18 0.20 0 0
CUI: C0685869
Disease: Monophthalmos
Monophthalmos 		6 0 6 0.17 0 0
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 21 0.17 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 16 0.16 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 17 0.16 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 16 0.13 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 16 0.12 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 16 0.12 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 16 0.12 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 7 0.11 0 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		15 0 5 0.11 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 17 0.10 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 20 0.10 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 17 9.9E-02 0 0
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome 		21 0 5 9.8E-02 0 0
CUI: C1840528
Disease: HOLOPROSENCEPHALY 4 (disorder)
HOLOPROSENCEPHALY 4 (disorder) 		3 0 3 8.6E-02 0 0
CUI: C1864827
Disease: HOLOPROSENCEPHALY 5
HOLOPROSENCEPHALY 5 		3 0 3 8.6E-02 0 0
CUI: C4021638
Disease: Absent nasal septal cartilage
Absent nasal septal cartilage 		3 0 3 8.6E-02 0 0