DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Blood Protein Measurement ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs6136

rs6136

SELP

0.752

0.440

1

169594713

missense variant

T/G

snv

8.2E-02

7.5E-02

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

2018

dbSNP:

rs2205895

rs2205895

SELP

1

169603407

intron variant

C/T

snv

0.39

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

2018

dbSNP:

rs2223303

rs2223303

SELP

1

169605649

intron variant

C/T

snv

0.32

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

2018

dbSNP:

rs3917775

rs3917775

SELP

1

169601838

intron variant

T/C

snv

0.42

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

2018

dbSNP:

rs6128

rs6128

SELP

0.851

0.360

1

169593666

synonymous variant

C/A;T

snv

2.8E-05; 0.24

CUI:	C2985280
Disease:	Blood Protein Measurement

Blood Protein Measurement

0.700

1.000

2018

2018