DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×

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:

rs193929337

KCNJ11

0.827

0.160

17387937

missense variant

T/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.810

1.000

2004

2017

dbSNP:

rs80356611

KCNJ11

0.790

0.240

17387943

missense variant

C/A;G;T

snv

4.0E-06

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.810

1.000

2004

2017

dbSNP:

rs80356617

KCNJ11

0.882

0.160

17387916

missense variant

A/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.810

1.000

2004

2017

dbSNP:

rs80356618

KCNJ11

0.807

0.200

17387595

missense variant

C/A;T

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.810

1.000

2004

2017

dbSNP:

rs80356624

KCNJ11

0.752

0.240

17387490

missense variant

C/A;T

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.810

1.000

2004

2017

dbSNP:

rs1048095

ABCC8

1.000

0.080

17461731

missense variant

A/G

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.810

1.000

2006

2007

dbSNP:

rs193929333

KCNJ11

1.000

0.080

17387989

missense variant

A/C;G

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs193929353

KCNJ11

0.882

0.120

17387206

missense variant

T/C;G

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs80356615

KCNJ11

0.851

0.240

17387934

missense variant

C/T

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs80356616

KCNJ11

0.732

0.360

17387917

missense variant

C/T

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs80356620

KCNJ11

0.882

0.160

17387593

missense variant

T/G

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs80356621

KCNJ11

1.000

0.080

17387583

missense variant

T/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs80356622

KCNJ11

1.000

0.080

17387582

missense variant

C/G

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs80356625

KCNJ11

0.827

0.280

17387491

missense variant

G/A

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2004

2017

dbSNP:

rs137852676

ABCC8

0.882

0.160

17395852

stop gained

C/A;T

snv

1.5E-05

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs80356634

ABCC8

1.000

0.080

17474961

missense variant

T/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs80356637

ABCC8

0.851

0.240

17470119

missense variant

A/C;G

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs80356640

ABCC8

1.000

0.080

17461778

missense variant

G/A;T

snv

3.2E-05

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs80356642

ABCC8

1.000

0.080

17461767

missense variant

A/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs80356651

ABCC8

1.000

0.080

17453151

missense variant

C/T

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs80356653

ABCC8

1.000

0.080

17395647

missense variant

T/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2006

2007

dbSNP:

rs121908277

INS ; INS-IGF2

1.000

0.080

2159877

missense variant

T/C

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2007

2008

dbSNP:

rs80356654

GCK ; LOC105375258

0.925

0.080

44149810

missense variant

A/G;T

snv

4.0E-06

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2001

2014

dbSNP:

rs80356655

GCK ; LOC105375258

0.925

0.080

44147830

missense variant

G/A

snv

4.0E-06

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2001

2014

dbSNP:

rs80356663

INS ; INS-IGF2

0.925

0.120

2160901

missense variant

G/A;T

snv

CUI:	C1833104
Disease:	DIABETES MELLITUS, PERMANENT NEONATAL

DIABETES MELLITUS, PERMANENT NEONATAL

0.800

1.000

2007

2008