DisGeNET - a database of gene-disease associations

Source: MGD

Gene: PTS ×

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:	5805
Gene Symbol:	PTS

PTS

6-pyruvoyltetrahydropterin synthase

0.636

0.654

6.5E-06

CUI:	C0878676
Disease:	6-pyruvoyl-tetrahydropterin synthase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

disease

0.900

definitive

1.000

0

1987

2017