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: C0266174
Disease: Duodenal atresia
Duodenal atresia 		39 0 24 0.19 0 0
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		35 0 21 0.17 0 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		73 0 25 0.16 0 0
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		17 5 17 0.16 1 2.0E-02
CUI: C0431362
Disease: Lobar Holoprosencephaly
Lobar Holoprosencephaly 		37 0 19 0.15 0 0
CUI: C0431363
Disease: Alobar Holoprosencephaly
Alobar Holoprosencephaly 		16 0 16 0.15 0 0
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis 		16 0 16 0.15 0 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 28 0.14 0 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		20 0 16 0.14 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 0 32 0.14 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 31 0.14 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 0 23 0.13 0 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		109 0 25 0.13 0 0
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		104 0 24 0.13 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 24 0.12 0 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		79 0 20 0.12 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		137 0 26 0.12 0 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		47 0 16 0.11 0 0
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		103 0 21 0.11 0 0
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		69 0 17 0.11 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 32 0.10 0 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		188 0 27 1.0E-01 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 11 1.0E-01 0 0
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		115 0 20 9.8E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 14 9.1E-02 0 0