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: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
2 0 2 0.50 0 0
Elongated superior cerebellar peduncle
7 0 3 0.38 0 0
Tubular basement membrane disintegration
4 0 2 0.33 0 0
CUI: C4020922
Disease: Enlarged fossa interpeduncularis
Enlarged fossa interpeduncularis
4 0 2 0.33 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation
5 0 2 0.29 0 0
CUI: C1833999
Disease: Retinal pigmentary degeneration
Retinal pigmentary degeneration
1 0 1 0.25 0 0
CUI: C1842577
Disease: JOUBERT SYNDROME 2
JOUBERT SYNDROME 2
1 0 1 0.25 0 0
CUI: C1853153
Disease: JOUBERT SYNDROME 6
JOUBERT SYNDROME 6
1 0 1 0.25 0 0
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5
1 0 1 0.25 0 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
1 0 1 0.25 0 0
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
MECKEL SYNDROME, TYPE 2
1 0 1 0.25 0 0
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4
1 0 1 0.25 0 0
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 11
1 0 1 0.25 0 0
BARDET-BIEDL SYNDROME 14, MODIFIER OF
1 0 1 0.25 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome
7 0 2 0.22 0 0
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6
2 0 1 0.20 0 0
Impaired renal concentrating ability
2 0 1 0.20 0 0
CUI: C1968619
Disease: Renal corticomedullary cysts
Renal corticomedullary cysts
8 0 2 0.20 0 0
CUI: C3541340
Disease: PONTINE TEGMENTAL CAP DYSPLASIA
PONTINE TEGMENTAL CAP DYSPLASIA
2 0 1 0.20 0 0
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation
2 0 1 0.20 0 0
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3
3 0 1 0.17 0 0
CUI: C1846790
Disease: JOUBERT SYNDROME 4 (disorder)
JOUBERT SYNDROME 4 (disorder)
3 0 1 0.17 0 0
CUI: C1864785
Disease: Normal kidneys
Normal kidneys
3 0 1 0.17 0 0
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome
3 0 1 0.17 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome
11 0 2 0.15 0 0