Source: CLINVAR ×
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: C0008525
Disease: Choroideremia
Choroideremia 		1 0 1 1.3E-02 0 0
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites 		1 0 1 1.3E-02 0 0
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		1 1 1 1.3E-02 1 4.6E-03
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		1 0 1 1.3E-02 0 0
CUI: C0085633
Disease: Mood swings
Mood swings 		1 0 1 1.3E-02 0 0
CUI: C0086649
Disease: MPS III C
MPS III C 		1 36 1 1.3E-02 2 7.9E-03
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		1 0 1 1.3E-02 0 0
CUI: C0155360
Disease: Staphyloma posticum
Staphyloma posticum 		1 0 1 1.3E-02 0 0
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		1 12 1 1.3E-02 1 4.4E-03
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		1 0 1 1.3E-02 0 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		1 0 1 1.3E-02 0 0
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		1 0 1 1.3E-02 0 0
CUI: C0268505
Disease: Ocular albinism, type II
Ocular albinism, type II 		1 0 1 1.3E-02 0 0
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		1 12 1 1.3E-02 5 2.2E-02
CUI: C0339512
Disease: Bull's eye macular dystrophy
Bull's eye macular dystrophy 		1 1 1 1.3E-02 1 4.6E-03
CUI: C0339541
Disease: Goldmann-Favre syndrome (disorder)
Goldmann-Favre syndrome (disorder) 		1 0 1 1.3E-02 0 0
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		1 0 1 1.3E-02 0 0
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		1 2 1 1.3E-02 2 9.2E-03
CUI: C0423414
Disease: Retinal flecking
Retinal flecking 		1 1 1 1.3E-02 1 4.6E-03
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		1 0 1 1.3E-02 0 0
CUI: C0474420
Disease: Inappropriate sexual behavior
Inappropriate sexual behavior 		1 0 1 1.3E-02 0 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		1 0 1 1.3E-02 0 0
CUI: C0522216
Disease: Abnormal auditory evoked potential
Abnormal auditory evoked potential 		1 0 1 1.3E-02 0 0
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		1 0 1 1.3E-02 0 0
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		1 0 1 1.3E-02 0 0