Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		disease 0.430 None 1.000 0 2 2013 2019
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C3695272
Disease: Oculocutaneous albinism type 6
Oculocutaneous albinism type 6 		disease 0.410 None 1.000 0 5 2013 2019
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype 0.100 None 1.000 2 2 2007 2017
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C4073083
Disease: Abnormal foveal morphology on macular OCT
Abnormal foveal morphology on macular OCT 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C4024742
Disease: Aplasia/Hypoplasia of the macula
Aplasia/Hypoplasia of the macula 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C1834387
Disease: Abnormal iris pigmentation
Abnormal iris pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype 0.100 None 0 0
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5 		solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0