View disease #00012

Official abbreviation 220110
Name Mitochondrial complex IV deficiency, 220110 (3)
OMIM ID 220110
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 15 genes APOPT1, COA5, COX10, COX14, COX20, COX6B1, FASTKD2, MT-CO1, MT-CO2, MT-CO3, MT-TL1, MT-TN, SCO1, SURF1, TACO1
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Individuals

1 entry on 1 page. Showing entry 1.
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00000008 - - - - - - - - This is a placeholder individual (patient) entry for enabling quick variant submission without finishing all details about an individual. Please create true individual entries as soon as possible, ideally before creating screening and variant entries. 220110 AARS2, AASS, ABAT, ABCA9, ABCB10, ABCB6, ABCB7, ABCD1, ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADSB, ACADVL, ACAT1, ACSF3, ACSL4, ADCK3, AFG3L2, AGXT, AIFM2, AK2, AKR1D1, ALAS2, ALDH18A1, ALDH4A1, ALDH5A1, ALDH6A1, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, APEX2, APTX, ARG1, ARMS2, ASL, ASS1, ATL1, ATM, ATP5B, ATP5C1, ATP5D, ATP5E, ATP5F1, ATP5G1, ATP5G2, ATP5G3, ATP5H, ATP5I, ATP5J, ATP5J2, ATP5L, ATP5O, ATP5S, ATP7B, ATPAF1, ATPIF1, ATXN10, ATXN7, AUH, B4GALT1, BCKDHA, BCKDHB, BRAF, BTD - 0 1 Lishuang Shen
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