DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: Ornithine carbamoyltransferase deficiency ×

Gene: OTC ×

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:

rs68026851

OTC

1.000

0.120

38401310

missense variant

G/A;C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.820

1.000

1988

2017

dbSNP:

rs66741318

OTC

1.000

0.120

38401332

missense variant

G/C;T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.810

1.000

1988

2017

dbSNP:

rs67120076

OTC

1.000

0.120

38408752

missense variant

C/G;T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.810

1.000

1988

2017

dbSNP:

rs72554308

OTC

1.000

0.120

38367332

missense variant

G/A

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.810

1.000

1988

2017

dbSNP:

rs72558454

OTC

1.000

0.120

38408987

missense variant

C/T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.810

1.000

1988

2017

dbSNP:

rs67486158

OTC

1.000

0.120

38367361

stop gained

G/A;T

snv

4.9E-05

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs68031618

OTC

1.000

0.120

38352773

missense variant

G/A;C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72554312

OTC

1.000

0.120

38367347

missense variant

T/C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72554331

OTC

1.000

0.120

38369815

missense variant

G/A

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72554338

OTC

1.000

0.120

38369838

missense variant

G/A

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72554345

OTC

1.000

0.120

38369860

missense variant

G/C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72556260

OTC

1.000

0.120

38401306

missense variant

G/C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72556271

OTC

1.000

0.120

38401370

missense variant

A/G

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72558412

OTC

1.000

0.120

38403694

missense variant

T/G

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72558417

OTC

1.000

0.120

38403703

missense variant

C/G;T

snv

6.0E-05

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72558423

OTC

1.000

0.120

38403723

missense variant

C/G

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72558449

OTC

1.000

0.120

38408961

missense variant

T/C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs72558465

OTC

1.000

0.120

38411906

missense variant

G/T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2017

dbSNP:

rs66550389

OTC

1.000

0.120

38369854

missense variant

G/A;C;T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2002

dbSNP:

rs72554307

OTC

1.000

0.120

38367331

missense variant

C/T

snv

1.1E-05

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

1988

2013

dbSNP:

rs66469337

OTC

1.000

0.120

38421050

missense variant

T/C;G

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

2017

dbSNP:

rs66626662

OTC

1.000

0.120

38401372

missense variant

G/A;C

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

2017

dbSNP:

rs66656800

OTC

1.000

0.120

38381429

missense variant

G/A;C;T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.800

1.000

2017

dbSNP:

rs67294955

OTC

1.000

0.120

38403660

missense variant

G/A

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.710

1.000

1988

2002

dbSNP:

rs72554310

OTC

1.000

0.120

38367344

missense variant

C/T

snv

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

0.710

1.000

1988

2002