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: C1833999
Disease: Retinal pigmentary degeneration
Retinal pigmentary degeneration
1 1 1 1.00 1 3.8E-02
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5
1 45 1 1.00 16 0.29
LEBER CONGENITAL AMAUROSIS 10 (disorder)
1 17 1 1.00 11 0.34
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6
2 13 1 0.50 11 0.39
Impaired renal concentrating ability
2 0 1 0.50 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
2 17 1 0.50 10 0.30
CUI: C1864785
Disease: Normal kidneys
Normal kidneys
3 0 1 0.33 0 0
Thickened superior cerebellar peduncle
4 0 1 0.25 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation
5 0 1 0.20 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: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
12 0 1 8.3E-02 0 0
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
12 4 1 8.3E-02 1 3.4E-02
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys
12 2 1 8.3E-02 1 3.7E-02
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 3 1 7.1E-02 1 3.6E-02
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
14 0 1 7.1E-02 0 0
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus
15 5 1 6.7E-02 1 3.3E-02
CUI: C0005754
Disease: Congenital blindness
Congenital blindness
16 3 1 6.2E-02 1 3.6E-02
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue
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
Renal dysplasia and retinal aplasia (disorder)
20 0 1 5.0E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder)
20 0 1 5.0E-02 0 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
22 0 1 4.5E-02 0 0
CUI: C1610065
Disease: Urethral atresia
Urethral atresia
23 0 1 4.3E-02 0 0
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
26 105 1 3.8E-02 12 0.10