Gene Symbol:
TGFBI
HGNC:11771
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
5q31.1
Filters:

Definitive classifications

granular corneal dystrophy type I
Submitted as: OMIM:121900
AD
04/25/2017
Evaluated
09/11/2023
Submitted
Reis-Bucklers corneal dystrophy
Submitted as: OMIM:608470
AD
04/25/2017
Evaluated
09/11/2023
Submitted
Thiel-Behnke corneal dystrophy
Submitted as: OMIM:602082
AD
04/25/2017
Evaluated
09/11/2023
Submitted
granular corneal dystrophy type II
Submitted as: OMIM:607541
AD
04/25/2017
Evaluated
09/11/2023
Submitted
lattice corneal dystrophy type I
Submitted as: OMIM:122200
AD
01/23/2018
Evaluated
09/11/2023
Submitted

Strong classifications

granular corneal dystrophy type I
Submitted as: OMIM:121900
AD
01/14/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

epithelial basement membrane dystrophy
Submitted as: Orphanet:98956
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Thiel-Behnke corneal dystrophy
Submitted as: Orphanet:98960
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Reis-Bucklers corneal dystrophy
Submitted as: Orphanet:98961
AD
09/14/2021
Evaluated
09/14/2021
Submitted
granular corneal dystrophy type I
Submitted as: Orphanet:98962
AD
09/14/2021
Evaluated
09/14/2021
Submitted
granular corneal dystrophy type II
Submitted as: Orphanet:98963
AD
09/14/2021
Evaluated
09/14/2021
Submitted
lattice corneal dystrophy type I
Submitted as: Orphanet:98964
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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