Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I)
(
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000630130.2,
ENST00000696023.1,
ENST00000696029.1,
ENST00000695978.1,
ENST00000695987.1,
ENST00000696027.1,
ENST00000695981.1,
ENST00000359637.3,
ENST00000695984.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695976.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695979.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695979.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000696027.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695984.1, ENST00000695981.1, ENST00000696027.1, ENST00000696029.1, ENST00000696028.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000695976.1, ENST00000695970.1, ENST00000367429.9, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1, ENST00000695981.1, ENST00000695984.1, ENST00000696029.1, ENST00000696027.1, ENST00000696028.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000696028.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1 )
ENSG00000289697 p.Pro503Ala (p.P503A), CFH p.Pro503Ala (p.P503A) ( ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000695970.1, ENST00000367429.9, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000696028.1, ENST00000696029.1, ENST00000696027.1 )
ENSG00000289697 p.Pro503Ser (p.P503S), CFH p.Pro503Ser (p.P503S) ( ENST00000695981.1, ENST00000695984.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1, ENST00000696028.1, ENST00000696029.1, ENST00000696027.1 )
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000696028.1, ENST00000696027.1, ENST00000696029.1 )
ENSG00000289697 c.3580+48C>T, CFH p.Arg1210Cys (p.R1210C) ( ENST00000696028.1, ENST00000696027.1, ENST00000696029.1, ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695974.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1 )
ENSG00000289697 p.Val62Ile (p.V62I), CFH p.Val62Ile (p.V62I) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ala473= (p.A473=), CFH p.Ala473= (p.A473=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Pro503Ala (p.P503A), CFH p.Pro503Ala (p.P503A) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Pro503Ser (p.P503S), CFH p.Pro503Ser (p.P503S) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.2237-543G>A, CFH c.2237-543G>A ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+48C>T, CFH p.Arg1210Cys (p.R1210C) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- NA
Drugs