Gene2Function

Disease Annotation

Species: Human (Homo sapiens)
GeneID: 617
Symbol: BCS1L
Description: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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Disease_Term	Source	Rank	Other Values
Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)	OMIM	high	Genome region : 2q35 OMIM_ID : 124000 OMIM phenotype ID OMIM_ID : 603647 OMIM gene ID
Bjornstad syndrome, 262000 (3)	OMIM	high	Genome region : 2q35 OMIM_ID : 262000 OMIM phenotype ID OMIM_ID : 603647 OMIM gene ID
GRACILE syndrome, 603358 (3)	OMIM	high	Genome region : 2q35 OMIM_ID : 603358 OMIM phenotype ID OMIM_ID : 603647 OMIM gene ID
Leigh syndrome, 256000 (3)	OMIM	high	Genome region : 19p13.3 Genome region : 2q35 Genome region : 2q37.3 Genome region : 5p15.33 Genome region : 5q11.2 Genome region : 5q12.1 OMIM_ID : 256000 OMIM phenotype ID OMIM_ID : 600857 OMIM gene ID OMIM_ID : 601825 OMIM gene ID OMIM_ID : 602694 OMIM gene ID OMIM_ID : 603647 OMIM gene ID OMIM_ID : 603835 OMIM gene ID OMIM_ID : 609653 OMIM gene ID