DisGeNET - a database of gene-disease associations

RTEL1, regulator of telomere elongation helicase 1, 51750

N. diseases: 321; N. variants: 82

Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 ×

Variant: rs786205702 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786205702

Entrez Id:	8771;51750;100533107
Gene Symbol:	TNFRSF6B;RTEL1;RTEL1-TNFRSF6B

TNFRSF6B;RTEL1;RTEL1-TNFRSF6B

CUI:	C4225346
Disease:

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3

0.800

GeneticVariation

UNIPROT

dbSNP:

rs786205702

Entrez Id:	8771;51750;100533107
Gene Symbol:	TNFRSF6B;RTEL1;RTEL1-TNFRSF6B

TNFRSF6B;RTEL1;RTEL1-TNFRSF6B

CUI:	C4225346
Disease:

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3

0.800

CausalMutation

CLINVAR