Gene table of UMOD : uromodulin

Gene-disease associations table

Disease ID	Disease name	Source of annotation with UMOD	OMIM link	Number of associated genes	genes
PS162000	HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	UMOD, REN
145500	HYPERTENSION, ESSENTIAL	ClinVar	link to OMIM	13	RGS5, PTGIS, ADD1, NOS3, UMOD, AGT, ECE1, CYP3A5, ATP1B1, NOS2, GNB3, AGTR1, SELE
609886	GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA	OMIM, HUMSAVAR	link to OMIM	1	UMOD
603860	MEDULLARY CYSTIC KIDNEY DISEASE 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	UMOD

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

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
extracellular matrix structural constituent	GO:0005201	5.37
metal ion binding	GO:0046872	1.41
structural molecule activity	GO:0005198	3.1
IgG binding	GO:0019864	7.34
immunoglobulin binding	GO:0019865	6.6
macromolecular complex binding	GO:0044877	2.61
calcium ion binding	GO:0005509	3.17
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
ion binding	GO:0043167	1.36
binding	GO:0005488	0.18