Gene table of ALMS1 : ALMS1, centrosome and basal body associated protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ALMS1	OMIM link	Number of associated genes	genes
203800	ALSTROM SYNDROME	ClinVar, OMIM	link to OMIM	1	ALMS1

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
Recruitment of mitotic centrosome proteins and complexes	R-HSA-380270	6.68
Regulation of PLK1 Activity at G2/M Transition	R-HSA-2565942	6.66
Loss of proteins required for interphase microtubule organization from the centrosome	R-HSA-380284	7.03
Organelle biogenesis and maintenance	R-HSA-1852241	4.63
Mitotic G2-G2/M phases	R-HSA-453274	6.04
Anchoring of the basal body to the plasma membrane	R-HSA-5620912	6.51
Cell Cycle, Mitotic	R-HSA-69278	4.16
Loss of Nlp from mitotic centrosomes	R-HSA-380259	7.03
Cell Cycle	R-HSA-1640170	3.89
Assembly of the primary cilium	R-HSA-5617833	5.44
Centrosome maturation	R-HSA-380287	6.68
G2/M Transition	R-HSA-69275	6.06

Associated GO terms for Molecular function

GO term	GO ID	GO IC
actinin binding	GO:0042805	6.3
alpha-actinin binding	GO:0051393	6.6
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
cytoskeletal protein binding	GO:0008092	3.02