DisGeNET - a database of gene-disease associations

TBC1D23, TBC1 domain family member 23, 55773

N. diseases: 33; N. variants: 4

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1553730872

rs1553730872

0.925

3

100310462

frameshift variant

TG/-

delins

CUI:	C1261175
Disease:	Pontoneocerebellar hypoplasia

Pontoneocerebellar hypoplasia

0.700

1.000

2017

2017

dbSNP:

rs1553730885

rs1553730885

0.925

3

100310515

frameshift variant

T/AA

delins

CUI:	C1261175
Disease:	Pontoneocerebellar hypoplasia

Pontoneocerebellar hypoplasia

0.700

1.000

2017

2017

dbSNP:

rs1553731605

rs1553731605

0.925

3

100316189

splice donor variant

T/A;G

snv

CUI:	C1261175
Disease:	Pontoneocerebellar hypoplasia

Pontoneocerebellar hypoplasia

0.700

1.000

2017

2017

dbSNP:

rs1553730872

rs1553730872

0.925

3

100310462

frameshift variant

TG/-

delins

CUI:	C4540164
Disease:	PONTOCEREBELLAR HYPOPLASIA, TYPE 11

PONTOCEREBELLAR HYPOPLASIA, TYPE 11

0.700

dbSNP:

rs1553730885

rs1553730885

0.925

3

100310515

frameshift variant

T/AA

delins

CUI:	C4540164
Disease:	PONTOCEREBELLAR HYPOPLASIA, TYPE 11

PONTOCEREBELLAR HYPOPLASIA, TYPE 11

0.700

dbSNP:

rs1553731603

rs1553731603

1.000

3

100316188

splice donor variant

G/A

snv

CUI:	C4540164
Disease:	PONTOCEREBELLAR HYPOPLASIA, TYPE 11

PONTOCEREBELLAR HYPOPLASIA, TYPE 11

0.700

dbSNP:

rs1553731605

rs1553731605

0.925

3

100316189

splice donor variant

T/A;G

snv

CUI:	C4540164
Disease:	PONTOCEREBELLAR HYPOPLASIA, TYPE 11

PONTOCEREBELLAR HYPOPLASIA, TYPE 11

0.700