DisGeNET - a database of gene-disease associations

Gene: PNPT1 ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	87178
Gene Symbol:	PNPT1

PNPT1

CUI:	C0424605
Disease:	Developmental delay (disorder)

Developmental delay (disorder)

0.300

Biomarker

GENOMICS_ENGLAND

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

2019