DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Cone-Rod Dystrophy 2 ×

Gene: TTLL5 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23093
Gene Symbol:	TTLL5

TTLL5

CUI:	C3489532
Disease:	Cone-Rod Dystrophy 2

Cone-Rod Dystrophy 2

0.300

GermlineCausalMutation

ORPHANET

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

2014