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 0 1 0.50 0 0
CUI: C1857780
Disease: JOUBERT SYNDROME 5
JOUBERT SYNDROME 5
1 0 1 0.50 0 0
LEBER CONGENITAL AMAUROSIS 10 (disorder)
1 0 1 0.50 0 0
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
MECKEL SYNDROME, TYPE 4
1 0 1 0.50 0 0
Amelogenesis imperfecta and gingival hyperplasia syndrome
1 0 1 0.50 0 0
CUI: C4025067
Disease: Dagger-shaped pulp calcifications
Dagger-shaped pulp calcifications
1 0 1 0.50 0 0
Increased circulating osteocalcin level
1 0 1 0.50 0 0
CUI: C0268077
Disease: Hypophosphaturia
Hypophosphaturia
2 0 1 0.33 0 0
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6
2 0 1 0.33 0 0
CUI: C2673874
Disease: BARDET-BIEDL SYNDROME 14 (disorder)
BARDET-BIEDL SYNDROME 14 (disorder)
2 0 1 0.33 0 0
CUI: C1864785
Disease: Normal kidneys
Normal kidneys
3 0 1 0.25 0 0
Thickened superior cerebellar peduncle
4 0 1 0.20 0 0
CUI: C3806216
Disease: Neonatal breathing dysregulation
Neonatal breathing dysregulation
5 0 1 0.17 0 0
Yellow-brown discoloration of the teeth
7 0 1 0.12 0 0
Amelogenesis imperfecta local hypoplastic form
9 0 1 1.0E-01 0 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth
10 0 1 9.1E-02 0 0
CUI: C1855675
Disease: Arima syndrome
Arima syndrome
11 0 1 8.3E-02 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI
11 0 1 8.3E-02 0 0
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
12 0 1 7.7E-02 0 0
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia
12 0 1 7.7E-02 0 0
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys
12 0 1 7.7E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst
14 0 1 6.7E-02 0 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts
14 0 1 6.7E-02 0 0
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus
15 0 1 6.2E-02 0 0
CUI: C0005754
Disease: Congenital blindness
Congenital blindness
16 0 1 5.9E-02 0 0