DisGeNET - a database of gene-disease associations

Congenital Disorder Of Glycosylation, Type IIH, C1970021

Source: ALL

Results per page

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:

rs121434387

rs121434387

PDF ; COG8

1

1.000

0.080

16

69331067

stop gained

G/A;C

snv

1.2E-05

0.700

dbSNP:

rs766244312

rs766244312

PDF ; COG8

1

1.000

0.080

16

69330990

frameshift variant

AA/-

delins

1.7E-05

2.1E-05

0.700