DisGeNET - a database of gene-disease associations

Restrictive ventilatory defect, C3277226

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1554699491

rs1554699491

AGTPBP1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1559931177

rs1559931177

QRICH1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs1563221666

rs1563221666

SFTPC

T

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1569324457

rs1569324457

ASXL1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs1569518070

rs1569518070

COL6A1

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs543860009

rs543860009

TTN ; TTN-AS1

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs780631499

rs780631499

AGTPBP1

C

0.700

CausalMutation

CLINVAR

dbSNP:

rs878854378

rs878854378

TTN ; TTN-AS1

A

0.700

GeneticVariation

CLINVAR