DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Cone-Rod Dystrophy 2 ×

Gene: DRAM2 ×

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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:	128338
Gene Symbol:	DRAM2

DRAM2

CUI:	C3489532
Disease:	Cone-Rod Dystrophy 2

Cone-Rod Dystrophy 2

0.300

GermlineCausalMutation

ORPHANET

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

2015