Gene table of PKD1 : polycystin 1, transient receptor potential channel interacting

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PKD1	OMIM link	Number of associated genes	genes
173900	POLYCYSTIC KIDNEY DISEASE 1	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	PKD1, LRP5

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cargo trafficking to the periciliary membrane	R-HSA-5620920	7.31
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Assembly of the primary cilium	R-HSA-5617833	5.44
VxPx cargo-targeting to cilium	R-HSA-5620916	8.59

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation channel activity	GO:0005261	4.04
calcium channel activity	GO:0005262	5.03
carbohydrate binding	GO:0030246	4.17
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
ion channel binding	GO:0044325	5.02
calcium ion transmembrane transporter activity	GO:0015085	4.89
divalent inorganic cation transmembrane transporter activity	GO:0072509	4.62
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
protein domain specific binding	GO:0019904	3.32
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
protein binding	GO:0005515	0.46
substrate-specific channel activity	GO:0022838	3.67