DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Platelet Storage Pool Deficiency ×

Gene: RAB27A ×

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:	5873
Gene Symbol:	RAB27A

RAB27A

CUI:	C0032197
Disease:	Platelet Storage Pool Deficiency

Platelet Storage Pool Deficiency

0.210

Biomarker

MGD

Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.

11228153

2001

Entrez Id:	5873
Gene Symbol:	RAB27A

RAB27A

CUI:	C0032197
Disease:	Platelet Storage Pool Deficiency

Platelet Storage Pool Deficiency

0.210

Biomarker

MGD

Rab27a is required for regulated secretion in cytotoxic T lymphocytes.

11266472

2001

Entrez Id:	5873
Gene Symbol:	RAB27A

RAB27A

CUI:	C0032197
Disease:	Platelet Storage Pool Deficiency

Platelet Storage Pool Deficiency

0.210

Biomarker

MGD

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice.

11266473

2001

Entrez Id:	5873
Gene Symbol:	RAB27A

RAB27A

CUI:	C0032197
Disease:	Platelet Storage Pool Deficiency

Platelet Storage Pool Deficiency

0.210

Biomarker

MGD

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.

10859366

2000