DisGeNET - a database of gene-disease associations

Mucolipidosis III Gamma, C1854896

Source: ALL

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	84572
Gene Symbol:	GNPTG

GNPTG

Q9UJJ9

N-acetylglucosamine-1-phosphate transferase subunit gamma

Enzyme

36

0.705

0.423

4.6E-09

0.770

strong

1.000

19

34

2000

2018

Entrez Id:	79158
Gene Symbol:	GNPTAB

GNPTAB

Q3T906

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

139

0.592

0.731

7.7E-19

0.010

None

< 0.001

1

0

2000

2000