Global Variome shared LOVD
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000056568
Individual ID
00076793
Associated disease
STGD1
Phenotype details
Stargardt disease; y25: a visual acuity of 20/63, an ETDRS score of 61, Goldman visual field test: V4e, 14e: full, 12e: 5° ctl scotoma, Humphrey visual field test: 6° ctl scotoma, Foveal threshold of 31 dB, Foveal fixation; all in the left eye.
Diagnosis/Initial
-
Inheritance
Unknown
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
unknown
Protein
-
Owner name
Stéphanie Cornelis
Database submission
license
Creative Commons Attribution 4.0 International
Created by
Stéphanie Cornelis
Date created
2016-02-22 12:22:09 +01:00 (CET)
Date last edited
N/A
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators