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: C3665865
Disease: Craniofacial deformity
Craniofacial deformity 		3 0 2 0.67 0 0
CUI: C0079037
Disease: Branchial Clefts-Congenital disorder
Branchial Clefts-Congenital disorder 		1 1 1 0.50 1 0.11
CUI: C1839126
Disease: Premature posterior fontanelle closure
Premature posterior fontanelle closure 		1 0 1 0.50 0 0
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		1 4 1 0.50 2 0.18
CUI: C0399605
Disease: Commissural lip pit
Commissural lip pit 		2 0 1 0.33 0 0
CUI: C0795898
Disease: Cleft Palate-Lateral Synechia Syndrome
Cleft Palate-Lateral Synechia Syndrome 		6 0 2 0.33 0 0
CUI: C1862052
Disease: Gustatory lacrimation
Gustatory lacrimation 		2 0 1 0.33 0 0
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		2 0 1 0.33 0 0
CUI: C4024588
Disease: Aplasia/Hypoplasia of the frontal sinuses
Aplasia/Hypoplasia of the frontal sinuses 		2 0 1 0.33 0 0
CUI: C4025688
Disease: Abnormality of the skull base
Abnormality of the skull base 		2 0 1 0.33 0 0
CUI: C0432106
Disease: Midline facial cleft - Tessier cleft 0
Midline facial cleft - Tessier cleft 0 		8 0 2 0.25 0 0
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		3 0 1 0.25 0 0
CUI: C4021154
Disease: Enlarged cochlear aqueduct
Enlarged cochlear aqueduct 		3 0 1 0.25 0 0
CUI: C4021300
Disease: Prominent palatine ridges
Prominent palatine ridges 		3 0 1 0.25 0 0
CUI: C4551836
Disease: Perilobar nephroblastomatosis
Perilobar nephroblastomatosis 		3 0 1 0.25 0 0
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		4 0 1 0.20 0 0
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		4 0 1 0.20 0 0
CUI: C4021762
Disease: Abnormality of the cerebrum
Abnormality of the cerebrum 		4 0 1 0.20 0 0
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		4 0 1 0.20 0 0
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		5 0 1 0.17 0 0
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		5 0 1 0.17 0 0
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		5 24 1 0.17 1 3.1E-02
CUI: C1856639
Disease: Absent/hypoplastic paranasal sinuses
Absent/hypoplastic paranasal sinuses 		6 0 1 0.14 0 0
CUI: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		6 0 1 0.14 0 0
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		6 0 1 0.14 0 0