DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Intermediate Maple Syrup Urine Disease ×

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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

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:	152926
Gene Symbol:	PPM1K

PPM1K

protein phosphatase, Mg2+/Mn2+ dependent 1K

0.656

0.500

1.5E-04

CUI:	C1621920
Disease:	Intermediate Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

disease

0.500

None

1.000

0

2013

2013