DisGeNET - a database of gene-disease associations

PTPN23, protein tyrosine phosphatase non-receptor type 23, 25930

N. diseases: 21; N. variants: 8

Disease: Brain atrophy ×

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4551584
Disease:	Brain atrophy

Brain atrophy

0.110

GeneticVariation

disease

BEFREE

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.

29899372

2018

CUI:	C4551584
Disease:	Brain atrophy

Brain atrophy

0.110

GeneticVariation

disease

CLINVAR