DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Congenital Nonbullous Ichthyosiform Erythroderma ×

Gene: TGM1 ×

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:	7051
Gene Symbol:	TGM1

TGM1

transglutaminase 1

0.565

0.769

2.3E-13

CUI:	C0079154
Disease:	Congenital Nonbullous Ichthyosiform Erythroderma

Congenital Nonbullous Ichthyosiform Erythroderma

disease

1.000

limited

1.000

0

1994

2019