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 0.20 0 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		20 0 16 0.19 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 42 0.19 1 3.1E-02
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		16 0 15 0.19 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		17 0 15 0.19 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 19 0.18 0 0
CUI: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 17 0.17 0 0
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		35 0 16 0.16 0 0
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 16 0.16 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 25 0.15 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 44 0.15 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 20 0.13 0 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		73 0 17 0.13 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 18 0.12 1 5.6E-02
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		109 0 20 0.12 0 0
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		16 0 9 0.10 0 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		73 0 14 0.10 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 17 9.9E-02 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 17 9.9E-02 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 8 9.8E-02 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 11 9.7E-02 0 0
CUI: C0019553
Disease: Hip Contracture
Hip Contracture 		34 0 10 9.7E-02 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 16 9.6E-02 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 10 9.4E-02 0 0
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		14 0 8 9.4E-02 0 0