MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
6 entries on 1 page. Showing entries 1 - 6.
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ID
Abbreviation
Name
OMIM ID
Individuals
Phenotypes
Associated with genes
Associated tissues
Disease features
00011
252010
Mitochondrial complex I deficiency, 252010 (3)
252010
0
0
FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-TN, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, 7 more
-
-
00575
301020
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12
301020
0
0
NDUFA1
-
-
00590
618236
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14
618236
0
0
NDUFA11
-
-
00597
618243
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22
618243
0
0
NDUFA10
-
-
00598
618244
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23
618244
0
0
NDUFA12
-
-
00603
618249
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28
618249
0
0
NDUFA13
-
-
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