DisGeNET - a database of gene-disease associations

SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder), C2749936

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:

rs1554517382

rs1554517382

ERLIN2 ; LOC728024

1

1.000

0.240

8

37749852

splice donor variant

TGTGAGTATAC/CCTGGCTGTGACCTGGGCTGTGA

delins

0.700

dbSNP:

rs398123002

rs398123002

ERLIN2 ; LOC728024

1

1.000

0.240

8

37749793

splice acceptor variant

G/T

snv

0.700

dbSNP:

rs587776893

rs587776893

ERLIN2

1

1.000

0.240

8

37753521

frameshift variant

-/AC

delins

0.700