DisGeNET - a database of gene-disease associations

Retinal Dystrophies, C0854723

Gene: TTLL5 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23093
Gene Symbol:	TTLL5

TTLL5

0.110

GeneticVariation

group

BEFREE

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

2014

Entrez Id:	23093
Gene Symbol:	TTLL5

TTLL5

0.110

Biomarker

group

HPO