DisGeNET - a database of gene-disease associations

CFAP300, cilia and flagella associated protein 300, 85016

N. diseases: 43; N. variants: 6

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1555071691

rs1555071691

1.000

11

102083171

missense variant

A/G

snv

CUI:	C4748052
Disease:	CILIARY DYSKINESIA, PRIMARY, 38

CILIARY DYSKINESIA, PRIMARY, 38

0.800

1.000

2018

2018

dbSNP:

rs188240612

rs188240612

11

102073763

intron variant

G/A

snv

3.5E-03

CUI:	C3548479
Disease:	response to bronchodilator

response to bronchodilator

0.700

1.000

2015

2015

dbSNP:

rs1555069023

rs1555069023

1.000

11

102058885

frameshift variant

TTT/CC

delins

CUI:	C4748052
Disease:	CILIARY DYSKINESIA, PRIMARY, 38

CILIARY DYSKINESIA, PRIMARY, 38

0.700

dbSNP:

rs561237622

rs561237622

1.000

11

102066577

stop gained

C/G;T

snv

8.0E-06

CUI:	C4748052
Disease:	CILIARY DYSKINESIA, PRIMARY, 38

CILIARY DYSKINESIA, PRIMARY, 38

0.700

dbSNP:

rs754773453

rs754773453

1.000

11

102066649

stop gained

A/T

snv

2.1E-05

CUI:	C4748052
Disease:	CILIARY DYSKINESIA, PRIMARY, 38

CILIARY DYSKINESIA, PRIMARY, 38

0.700

dbSNP:

rs767760877

rs767760877

1.000

11

102047858

stop gained

C/A;T

snv

4.0E-06; 1.2E-05

CUI:	C4748052
Disease:	CILIARY DYSKINESIA, PRIMARY, 38

CILIARY DYSKINESIA, PRIMARY, 38

0.700