DisGeNET - a database of gene-disease associations

RIMS1, regulating synaptic membrane exocytosis 1, 22999

N. diseases: 32; N. variants: 5

Disease: Cone-Rod Dystrophy 7 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918302

Entrez Id:	22999
Gene Symbol:	RIMS1

RIMS1

CUI:	C1863634
Disease:

Cone-Rod Dystrophy 7

0.810

GeneticVariation

BEFREE

Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation.

27176872

2017

dbSNP:

rs121918302

Entrez Id:	22999
Gene Symbol:	RIMS1

RIMS1

CUI:	C1863634
Disease:

Cone-Rod Dystrophy 7

0.810

GeneticVariation

UNIPROT

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

12659814

2003

dbSNP:

rs121918302

Entrez Id:	22999
Gene Symbol:	RIMS1

RIMS1

CUI:	C1863634
Disease:

Cone-Rod Dystrophy 7

0.810

CausalMutation

CLINVAR

dbSNP:

rs759999855

Entrez Id:	22999
Gene Symbol:	RIMS1

RIMS1

CUI:	C1863634
Disease:

Cone-Rod Dystrophy 7

0.010

GeneticVariation

BEFREE

To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1.

15665353

2005