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: C2678480
Disease: Chromosome 22q11.2 Deletion Syndrome, Distal
Chromosome 22q11.2 Deletion Syndrome, Distal 		3 0 3 0.38 0 0
CUI: C4023457
Disease: Short face
Short face 		6 0 3 0.27 0 0
CUI: C1862052
Disease: Gustatory lacrimation
Gustatory lacrimation 		2 0 2 0.25 0 0
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		2 0 2 0.25 0 0
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		3 0 2 0.22 0 0
CUI: C4021154
Disease: Enlarged cochlear aqueduct
Enlarged cochlear aqueduct 		3 0 2 0.22 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		9 0 3 0.21 0 0
CUI: C1837826
Disease: Coloboma of inferior eyelid
Coloboma of inferior eyelid 		4 0 2 0.20 0 0
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		4 0 2 0.20 0 0
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		4 0 2 0.20 0 0
CUI: C4021762
Disease: Abnormality of the cerebrum
Abnormality of the cerebrum 		4 0 2 0.20 0 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		10 0 3 0.20 0 0
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		4 0 2 0.20 0 0
CUI: C1844555
Disease: Absent toenail
Absent toenail 		11 0 3 0.19 0 0
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		5 0 2 0.18 0 0
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		5 0 2 0.18 0 0
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		5 0 2 0.18 0 0
CUI: C1857456
Disease: Morphological abnormality of the middle ear
Morphological abnormality of the middle ear 		6 0 2 0.17 0 0
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		6 0 2 0.17 0 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		14 0 3 0.16 0 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal 		14 0 3 0.16 0 0
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		7 0 2 0.15 0 0
CUI: C0302859
Disease: Euthyroid Goiter
Euthyroid Goiter 		7 0 2 0.15 0 0
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		7 0 2 0.15 0 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		7 0 2 0.15 0 0