Gene table of HCCS : holocytochrome c synthase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HCCS	OMIM link	Number of associated genes	genes
PS309801	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	COX7B, NDUFB11, HCCS
PS309800	MICROPHTHALMIA, SYNDROMIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	11	NAA10, BCOR, HCCS, MAB21L2, VAX1, RARB, STRA6, BMP4, HMGB3, OTX2, SOX2

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
Porphyrin and chlorophyll metabolism	hsa00860	7.41

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cation binding	GO:0043169	1.4
carbon-sulfur lyase activity	GO:0016846	7.54
holocytochrome-c synthase activity	GO:0004408	9.74
lyase activity	GO:0016829	4.53
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
metal ion binding	GO:0046872	1.41