(Q18030567)

English

PKHD1

protein-coding gene in the species Homo sapiens

ARPKD
FCYT
TIGM1
polycystic kidney and hepatic disease 1 (autosomal recessive)
PKHD1, fibrocystin/polyductin
FPC
PKD4
PKHD1 ciliary IPT domain containing fibrocystin/polyductin

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Statements

1 reference

1 reference

1 reference

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

1 reference

6 July 2017

genome-wide association study

TAS

1 reference

reference URL

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_10283&ncbiId=5314

http://www.genome.gov/gwastudies/index.cfm?gene=PKHD1

stated in

Phenocarta

A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study

25 May 2020

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

51480098

Genome assembly GRCh37

1 reference

51615299

genome assembly GRCh38

1 reference

51952423

Genome assembly GRCh37

1 reference

52087613

genome assembly GRCh38

1 reference

6p12.3-p12.2

1 reference

15 May 2022

16336

1 reference

15 May 2022

1 reference

28 November 2015

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

pancreatic epithelial cell

series ordinal

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

kidney

series ordinal

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

body of pancreas

series ordinal

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

corpus epididymis

series ordinal

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

tibialis anterior muscle

series ordinal

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

caput epididymis

series ordinal

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

islet of Langerhans

series ordinal

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

right lobe of liver

series ordinal

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

gallbladder

series ordinal

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000170927

exact match

http://identifiers.org/ncbigene/5314

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

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15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

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15 May 2022

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15 May 2022

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15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

9 July 2020

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

(Q18030567)

PKHD1

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Identifiers

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