Gene table of ECEL1 : endothelin converting enzyme like 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ECEL1	OMIM link	Number of associated genes	genes
615065	ARTHROGRYPOSIS, DISTAL, TYPE 5D	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ECEL1

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
hydrolase activity	GO:0016787	1.9
endopeptidase activity	GO:0004175	3.63
metalloendopeptidase activity	GO:0004222	5.02
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
metal ion binding	GO:0046872	1.41
metallopeptidase activity	GO:0008237	4.5