DisGeNET - a database of gene-disease associations

ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY, C4310667

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs780472451

rs780472451

TBCE

1

1.000

1

235427143

stop gained

T/A

snv

0.800

dbSNP:

rs1553336397

rs1553336397

TBCE

1

1.000

1

235414579

missense variant

T/G

snv

0.700

dbSNP:

rs750781063

rs750781063

TBCE

1

1.000

1

235436568

frameshift variant

C/-

delins

0.700