cystic fibrosis (Q178194)

autosomal recessive disease

5 July 2017

1 reference

5 July 2017

1 reference

drug used for treatment

sodium phenylbutyrate

1 reference

13 December 2016

1 reference

13 December 2016

1 reference

13 December 2016

1 reference

Genome-wide association study

13 December 2016

TAS

1 reference

http://chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1485&ncbiId=186

http://www.genome.gov/gwastudies/index.cfm?gene=AGTR2

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

Phenocarta

Genome-wide association study

13 September 2017

SLC8A3

determination method

TAS

1 reference

http://chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1485&ncbiId=6547

http://www.genome.gov/gwastudies/index.cfm?gene=SLC8A3

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

Phenocarta

Genome-wide association study

13 September 2017

AHRR

determination method

TAS

1 reference

http://chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_1485&ncbiId=57491

http://www.genome.gov/gwastudies/index.cfm?gene=AHRR

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.

Phenocarta

13 September 2017

Commons category

Cystic fibrosis

0 references

topic's main category

Category:Cystic fibrosis

0 references

ICPC 2 ID

T99

1 reference

imported from

Spanish Wikipedia

NCI Thesaurus ID

C2975

1 reference

5 July 2017

cystic-fibrosis-pro

1 reference

http://www.patient.co.uk/patientplus/c.htm

exact match

http://purl.obolibrary.org/obo/DOID_1485

1 reference

http://identifiers.org/doid/DOID:1485

5 July 2017

Disease Ontology ID

DOID:1485

1 reference

MIRIAM Registry

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

BNCF Thesaurus

20386

1 reference

imported from

National Central Library of Florence

OMIM ID

219700

1 reference

5 July 2017

1 reference

5 July 2017

1 reference

1 reference

1 reference

5 July 2017

1 reference

5 July 2017

1 reference

5 July 2017

1 reference

0 references

1 reference

28 October 2013

1 reference

1 reference

5 July 2017

1 reference