LYRM7, LYR motif containing 7, 90624

N. diseases: 34; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777433
rs587777433
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
CUI: C4014440
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		0.800 GeneticVariation UNIPROT A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. 24014394 2013
dbSNP: rs587777433
rs587777433
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
CUI: C4014440
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869025602
rs869025602
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
CUI: C4014440
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs869025603
rs869025603
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
CUI: C4014440
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		AATT 0.700 CausalMutation CLINVAR
dbSNP: rs869025604
rs869025604
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
CUI: C4014440
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869025605
rs869025605
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
CUI: C4014440
Disease:
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 		T 0.700 CausalMutation CLINVAR