DisGeNET - a database of gene-disease associations

RAB33B, RAB33B, member RAS oncogene family, 83452

N. diseases: 24; N. variants: 7

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:

rs587776958

rs587776958

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs587776958

rs587776958

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

C

0.800

CausalMutation

CLINVAR

dbSNP:

rs886044716

rs886044716

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs886044716

rs886044716

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

A

0.800

CausalMutation

CLINVAR

dbSNP:

rs1085307128

rs1085307128

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1085307129

rs1085307129

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1085307130

rs1085307130

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1085307131

rs1085307131

Entrez Id:	83452
Gene Symbol:	RAB33B

RAB33B

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs1561002040

rs1561002040

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C3714896
Disease:

SMITH-MCCORT DYSPLASIA 2

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1561002040

rs1561002040

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C0426817
Disease:

Short ribs

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1561002040

rs1561002040

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C1844704
Disease:

Platyspondyly

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1561002040

rs1561002040

Entrez Id:	83452;107984036
Gene Symbol:	RAB33B;LOC107984036

RAB33B;LOC107984036

CUI:	C0349588
Disease:

Short stature

A

0.700

GeneticVariation

CLINVAR