Gene table of ANKH : ANKH inorganic pyrophosphate transport regulator

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ANKH	OMIM link	Number of associated genes	genes
118600	CHONDROCALCINOSIS 2	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ANKH
123000	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ANKH

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
Miscellaneous transport and binding events	R-HSA-5223345	8.66
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
secondary active transmembrane transporter activity	GO:0015291	4.29
transporter activity	GO:0005215	2.57
anion transmembrane transporter activity	GO:0008509	4.43
inorganic phosphate transmembrane transporter activity	GO:0005315	7.79
phosphate ion transmembrane transporter activity	GO:0015114	6.91
phosphate transmembrane transporter activity	GO:1901677	6.69
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
inorganic anion transmembrane transporter activity	GO:0015103	4.87
	GO:0030504	9.74
active transmembrane transporter activity	GO:0022804	3.85