DisGeNET - a database of gene-disease associations

Source: MGD

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 _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5009
Gene Symbol:	OTC

OTC

ornithine carbamoyltransferase

0.565

0.846

0.87

CUI:	C0268542
Disease:	Ornithine carbamoyltransferase deficiency

Ornithine carbamoyltransferase deficiency

disease

1.000

definitive

1.000

0

1976

2018