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Gene

Genes and mapped phenotypes

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Name/Gene ID	Description	Location	Aliases	MIM
Select item 56652 TWNK ID: 56652	twinkle mtDNA helicase [Homo sapiens (human)]	Chromosome 10, NC_000010.11 (100987543..100994403)	ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL	606075
Select item 57132 CHMP1B ID: 57132	charged multivesicular body protein 1B [Homo sapiens (human)]	Chromosome 18, NC_000018.10 (11851413..11854444)	C10orf2, C18-ORF2, C18orf2, CHMP1.5, Vps46-2, Vps46B, hVps46-2	606486
Select item 3295 HSD17B4 ID: 3295	hydroxysteroid 17-beta dehydrogenase 4 [Homo sapiens (human)]	Chromosome 5, NC_000005.10 (119452497..119542332)	DBP, MFE-2, MFP-2, MPF-2, PRLTS1, SDR8C1	601860
Select item 23395 LARS2 ID: 23395	leucyl-tRNA synthetase 2, mitochondrial [Homo sapiens (human)]	Chromosome 3, NC_000003.12 (45388576..45549407)	HLASA, LEURS, PRLTS4, mtLeuRS	604544
Select item 8192 CLPP ID: 8192	caseinolytic mitochondrial matrix peptidase proteolytic subunit [Homo sapiens (human)]	Chromosome 19, NC_000019.10 (6361531..6370242)	DFNB81, PRLTS3	601119