DisGeNET - a database of gene-disease associations

Source: ALL

Gene: ABCA13 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1368653

rs1368653

ABCA13

7

48375342

intron variant

T/C

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs17132278

rs17132278

ABCA13

7

48378593

intron variant

A/G

snv

0.23

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs1880739

rs1880739

ABCA13

7

48378259

intron variant

T/C

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs6583405

rs6583405

ABCA13

7

48372738

intron variant

T/C

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs6946995

rs6946995

ABCA13

7

48392475

intron variant

C/T

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs6955132

rs6955132

ABCA13

7

48392725

intron variant

A/G

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs6966454

rs6966454

ABCA13

7

48379347

intron variant

G/C

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs7795985

rs7795985

ABCA13

7

48376224

intron variant

A/T

snv

0.24

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs7803797

rs7803797

ABCA13

7

48387333

intron variant

G/A

snv

0.25

CUI:	C0523465
Disease:	Serum albumin measurement

Serum albumin measurement

0.700

1.000

2013

2013

dbSNP:

rs797045205

rs797045205

ABCA13

1.000

0.040

7

48387961

splice donor variant

T/C

snv

4.3E-06

1.4E-05

CUI:	C0036341
Disease:	Schizophrenia

Schizophrenia

0.700

dbSNP:

rs17132388

rs17132388

ABCA13

1.000

0.040

7

48494425

intron variant

G/A

snv

0.14

CUI:	C0036341
Disease:	Schizophrenia

Schizophrenia

0.010

1.000

2017

2017

dbSNP:

rs6583476

rs6583476

ABCA13

1.000

0.040

7

48204817

intron variant

A/G

snv

0.26

CUI:	C0036341
Disease:	Schizophrenia

Schizophrenia

0.010

1.000

2017

2017

dbSNP:

rs7789493

rs7789493

ABCA13

1.000

0.040

7

48412603

intron variant

G/A

snv

0.21

0.19

CUI:	C0036341
Disease:	Schizophrenia

Schizophrenia

0.010

1.000

2017

2017