DisGeNET - a database of gene-disease associations

IFT74, intraflagellar transport 74, 80173

N. diseases: 18; N. variants: 5

Disease: BARDET-BIEDL SYNDROME 20 ×

Source: ALL

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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:	C4310707
Disease:	BARDET-BIEDL SYNDROME 20

BARDET-BIEDL SYNDROME 20

0.500

Biomarker

disease

GENOMICS_ENGLAND

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

27486776

2016

CUI:	C4310707
Disease:	BARDET-BIEDL SYNDROME 20

BARDET-BIEDL SYNDROME 20

0.500

Biomarker

disease

GENOMICS_ENGLAND

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

27486776

2016

CUI:	C4310707
Disease:	BARDET-BIEDL SYNDROME 20

BARDET-BIEDL SYNDROME 20

0.500

Biomarker

disease

GENOMICS_ENGLAND

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

27486776

2016

CUI:	C4310707
Disease:	BARDET-BIEDL SYNDROME 20

BARDET-BIEDL SYNDROME 20

0.500

Biomarker

disease

CTD_human