kidney

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ALPL	OMIM link	Number of associated genes	genes
146300	HYPOPHOSPHATASIA, ADULT	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ALPL
241510	HYPOPHOSPHATASIA, CHILDHOOD	OMIM, HUMSAVAR	link to OMIM	1	ALPL
241500	HYPOPHOSPHATASIA, INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ALPL

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

KEGG pathway	KEGG ID	KEGG IC
Metabolic pathways	hsa01100	2.49
Folate biosynthesis	hsa00790	8.86

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
phosphatase activity	GO:0016791	4.11
alkaline phosphatase activity	GO:0004035	7.95
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
hydrolase activity, acting on ester bonds	GO:0016788	3.1
ion binding	GO:0043167	1.36
phosphoric ester hydrolase activity	GO:0042578	3.82
pyrophosphatase activity	GO:0016462	3.04
cation binding	GO:0043169	1.4
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
metal ion binding	GO:0046872	1.41