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: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2 		1 14 1 1.00 10 0.62
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis 		4 0 1 0.25 0 0
CUI: C4021756
Disease: Thickened superior cerebellar peduncle
Thickened superior cerebellar peduncle 		4 0 1 0.25 0 0
CUI: C4025719
Disease: Dysgenesis of the cerebellar vermis
Dysgenesis of the cerebellar vermis 		4 0 1 0.25 0 0
CUI: C1836393
Disease: Abnormality of ocular smooth pursuit
Abnormality of ocular smooth pursuit 		5 0 1 0.20 0 0
CUI: C1855677
Disease: Brainstem dysplasia
Brainstem dysplasia 		5 0 1 0.20 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation 		5 0 1 0.20 0 0
CUI: C3810214
Disease: Elongated superior cerebellar peduncle
Elongated superior cerebellar peduncle 		7 0 1 0.14 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 1 0.12 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 1 0.11 0 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 1 0.11 0 0
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		9 0 1 0.11 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 1 0.11 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 1 9.1E-02 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		11 0 1 9.1E-02 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 1 9.1E-02 0 0
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		12 0 1 8.3E-02 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 1 7.1E-02 0 0
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		17 0 1 5.9E-02 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 1 5.6E-02 0 0
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		19 0 1 5.3E-02 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 1 5.3E-02 0 0
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		19 0 1 5.3E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia 		23 0 1 4.3E-02 0 0
CUI: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		25 0 1 4.0E-02 0 0