Global Variome shared LOVD
TULP1 (tubby like protein 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Markus Preising
View all genes
View TULP1 gene homepage
View graphs about the TULP1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene TULP1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene TULP1
View all variants in gene TULP1
Full data view for gene TULP1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene TULP1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene TULP1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene TULP1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000353675
Individual ID
00468523
Associated disease
CTRCT
Phenotype details
thin cataract, fibrotic nuclear cataract; symmetrical opacities; adherent corneal leukoma, aniridia, macular hypoplasia, nystagmus, developmental delay ; Wilms tumor, aniridia, genitourinary anomalies, mental retardation
Diagnosis/Initial
bilateral cataract
Inheritance
Isolated (sporadic)
Diagnosis/Definite
WAGR
Age/Examination
-
Age/Diagnosis
-
Age/Onset
01y06m
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2025-11-09 20:53:28 +01:00 (CET)
Date last edited
2025-11-10 10:53:45 +01:00 (CET)
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