DisGeNET - a database of gene-disease associations

RAB39B, RAB39B, member RAS oncogene family, 116442

N. diseases: 90; N. variants: 5

Source: ALL

Results per page

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:

rs587777874

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

GeneticVariation

UNIPROT

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

27066548

2015

dbSNP:

rs587777874

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

GeneticVariation

UNIPROT

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

26399558

2015

dbSNP:

rs864309527

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

GeneticVariation

UNIPROT

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

27066548

2015

dbSNP:

rs864309527

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

GeneticVariation

UNIPROT

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

26399558

2015

dbSNP:

rs587777874

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

GeneticVariation

UNIPROT

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

25434005

2014

dbSNP:

rs864309527

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

GeneticVariation

UNIPROT

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

25434005

2014

dbSNP:

rs587777874

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs864309527

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0796195
Disease:

Waisman syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs1557314191

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C1846038
Disease:

MENTAL RETARDATION, X-LINKED 72

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606995

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C1846038
Disease:

MENTAL RETARDATION, X-LINKED 72

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776734

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C1846038
Disease:

MENTAL RETARDATION, X-LINKED 72

0.700

CausalMutation

CLINVAR

dbSNP:

rs864309527

Entrez Id:	116442
Gene Symbol:	RAB39B

RAB39B

CUI:	C0030567
Disease:

Parkinson Disease

0.010

GeneticVariation

BEFREE

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

26399558

2015