DisGeNET - a database of gene-disease associations

TAP1, transporter 1, ATP binding cassette subfamily B member, 6890

N. diseases: 181; N. variants: 11

Disease: Bare Lymphocyte Syndrome, Type I ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C1858266
Disease:	Bare Lymphocyte Syndrome, Type I

Bare Lymphocyte Syndrome, Type I

0.600

GermlineCausalMutation

disease

ORPHANET

Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome.

10074494

1999

CUI:	C1858266
Disease:	Bare Lymphocyte Syndrome, Type I

Bare Lymphocyte Syndrome, Type I

0.600

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C1858266
Disease:	Bare Lymphocyte Syndrome, Type I

Bare Lymphocyte Syndrome, Type I

0.600

Biomarker

disease

CTD_human