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: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		3 0 3 0.11 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 13 0.10 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 24 4 8.7E-02 1 3.7E-02
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		26 0 4 8.2E-02 0 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		14 0 3 7.9E-02 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 8 7.8E-02 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 4 7.5E-02 0 0
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		2 0 2 7.4E-02 0 0
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		3 0 2 7.1E-02 0 0
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		34 0 4 7.0E-02 0 0
CUI: C0030846
Disease: Penile Diseases
Penile Diseases 		4 0 2 6.9E-02 0 0
CUI: C1839749
Disease: Paroxysmal bursts of laughter
Paroxysmal bursts of laughter 		4 0 2 6.9E-02 0 0
CUI: C1829460
Disease: Tongue thrusting
Tongue thrusting 		5 2 2 6.7E-02 1 0.20
CUI: C1856202
Disease: U-Shaped upper lip vermilion
U-Shaped upper lip vermilion 		6 0 2 6.5E-02 0 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		9 0 2 5.9E-02 0 0
CUI: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		9 0 2 5.9E-02 0 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		45 0 4 5.9E-02 0 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		45 0 4 5.9E-02 0 0
CUI: C1855669
Disease: Absent frontal sinuses
Absent frontal sinuses 		9 0 2 5.9E-02 0 0
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		9 0 2 5.9E-02 0 0
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		10 0 2 5.7E-02 0 0
CUI: C0543874
Disease: Apraxia, oculomotor, Cogan type
Apraxia, oculomotor, Cogan type 		10 0 2 5.7E-02 0 0
CUI: C1833362
Disease: Sleep-wake cycle disturbance
Sleep-wake cycle disturbance 		10 0 2 5.7E-02 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 2 5.6E-02 0 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		11 0 2 5.6E-02 0 0