Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Choroidal Neovascularization
CUI: C0600518
Disease: Choroidal Neovascularization
0.700 CausalMutation CLINVAR
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
0.700 CausalMutation CLINVAR
Hypopigmentation of hair
CUI: C3278401
Disease: Hypopigmentation of hair
0.700 CausalMutation CLINVAR
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
0.700 CausalMutation CLINVAR
Iris transillumination defect
CUI: C1096099
Disease: Iris transillumination defect
0.700 CausalMutation CLINVAR
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
0.700 CausalMutation CLINVAR
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
0.700 CausalMutation CLINVAR
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
0.700 CausalMutation CLINVAR
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 CausalMutation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 CausalMutation CLINVAR
Foveal hypoplasia (finding)
CUI: C2673946
Disease: Foveal hypoplasia (finding)
0.700 CausalMutation CLINVAR
Slow decrease in visual acuity
CUI: C1853141
Disease: Slow decrease in visual acuity
0.700 CausalMutation CLINVAR
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
0.700 CausalMutation CLINVAR
Abnormality of metabolism/homeostasis
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
0.700 CausalMutation CLINVAR
Albinism
CUI: C0001916
Disease: Albinism
0.700 CausalMutation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR