Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MTC183 MIFTS: 11	Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies Categories: Metabolic diseases, Rare diseases
Genes Variations Expand all tables

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Aliases & Classifications for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

MalaCards integrated aliases for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies:

Name: Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies ⁵⁸

Mitochondrial Oxidative Phosphorylation Disorder Due to Ndna Anomalies ⁵⁸

Oxphos Disease Due to Nuclear Dna Anomalies ⁵⁸

Oxphos Disease Due to Ndna Anomalies ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁸ ORPHA2443

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Summaries for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

MalaCards based summary : Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies, is also known as mitochondrial oxidative phosphorylation disorder due to ndna anomalies. An important gene associated with Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies is GFM1 (G Elongation Factor Mitochondrial 1).

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Related Diseases for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Diseases in the Mitochondrial Oxidative Phosphorylation Disorder family:

Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies	Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna
Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies	Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna

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Symptoms & Phenotypes for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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Drugs & Therapeutics for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Search Clinical Trials , NIH Clinical Center for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies

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Genetic Tests for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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Anatomical Context for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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Publications for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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Genes for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

Genes related to Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GFM1	G Elongation Factor Mitochondrial 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶

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Variations for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

ClinVar genetic disease variations for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies:

⁶ (show top 50) (show all 143) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GFM1	NM_024996.5(GFM1):c.748C>T (p.Arg250Trp)	SNV	Pathogenic/Likely pathogenic	30598	rs139430866	3:158369943-158369943	3:158652154-158652154
2	AIFM1	NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr)	SNV	Conflicting interpretations of pathogenicity	857026		X:129283453-129283453	X:130149478-130149478
3	MRPS16	NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)	SNV	Conflicting interpretations of pathogenicity	214673	rs117510230	10:75010635-75010635	10:73250877-73250877
4	MRPS16	NM_016065.4(MRPS16):c.112C>A (p.His38Asn)	SNV	Conflicting interpretations of pathogenicity	214670	rs116157972	10:75011683-75011683	10:73251925-73251925
5	AIFM1	NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)	SNV	Conflicting interpretations of pathogenicity	214080	rs781350745	X:129271081-129271081	X:130137106-130137106
6	AIFM1	NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)	SNV	Conflicting interpretations of pathogenicity	214082	rs752742151	X:129281749-129281749	X:130147774-130147774
7	MRPS16	NM_016065.4(MRPS16):c.-8G>C	SNV	Conflicting interpretations of pathogenicity	138249	rs2271909	10:75012248-75012248	10:73252490-73252490
8	AIFM1	NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)	SNV	Conflicting interpretations of pathogenicity	243069	rs202219398	X:129267348-129267348	X:130133373-130133373
9	MRPS22	NM_020191.4(MRPS22):c.987+15del	deletion	Conflicting interpretations of pathogenicity	343491	rs372892045	3:139074639-139074639	3:139355797-139355797
10	AARS2	NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	SNV	Conflicting interpretations of pathogenicity	357070	rs146512155	6:44272836-44272836	6:44305099-44305099
11	MRPS16	NM_016065.4(MRPS16):c.63T>C (p.Leu21=)	SNV	Conflicting interpretations of pathogenicity	300721	rs376338190	10:75011732-75011732	10:73251974-73251974
12	MRPS16	NM_016065.4(MRPS16):c.14-12G>A	SNV	Conflicting interpretations of pathogenicity	300725	rs11594611	10:75011793-75011793	10:73252035-73252035
13	MRPS16	NM_016065.4(MRPS16):c.96C>T (p.Tyr32=)	SNV	Conflicting interpretations of pathogenicity	300720	rs201106309	10:75011699-75011699	10:73251941-73251941
14	MRPS16	NM_016065.4(MRPS16):c.59G>A (p.Arg20His)	SNV	Conflicting interpretations of pathogenicity	300722	rs202242186	10:75011736-75011736	10:73251978-73251978
15	MRPS16	NM_016065.4(MRPS16):c.-147C>G	SNV	Uncertain significance	300731	rs886047202	10:75012387-75012387	10:73252629-73252629
16	C12orf65	NM_152269.5(C12orf65):c.*14del	deletion	Uncertain significance	307498	rs886049040	12:123741592-123741592	12:123257045-123257045
17	TUFM	NM_003321.5(TUFM):c.1195-3T>C	SNV	Uncertain significance	318743	rs376169369	16:28854472-28854472	16:28843151-28843151
18	TUFM	NM_003321.5(TUFM):c.-57_-55TCT[2]	short repeat	Uncertain significance	318759	rs147419027	16:28857639-28857641	16:28846318-28846320
19	TSFM	NM_005726.6(TSFM):c.233C>T (p.Ala78Val)	SNV	Uncertain significance	310009	rs886049729	12:58179947-58179947	12:57786164-57786164
20	C12orf65	NM_152269.5(C12orf65):c.702_705CAGT[1]	short repeat	Uncertain significance	307511	rs886049046	12:123742280-123742283	12:123257733-123257736
21	TUFM	NM_003321.4(TUFM):c.-81G>C	SNV	Uncertain significance	318761	rs573249163	16:28857671-28857671	16:28846350-28846350
22	TUFM	NM_003321.4(TUFM):c.-128G>C	SNV	Uncertain significance	318762	rs555362028	16:28857718-28857718	16:28846397-28846397
23	EARS2	NM_001083614.2(EARS2):c.*1902dup	duplication	Uncertain significance	318512	rs79556186	16:23533789-23533790	16:23522468-23522469
24	EARS2	NM_001083614.2(EARS2):c.*1048del	deletion	Uncertain significance	318526	rs750087699	16:23534644-23534644	16:23523323-23523323
25	EARS2	NM_001083614.2(EARS2):c.*535dup	duplication	Uncertain significance	318531	rs11300207	16:23535156-23535157	16:23523835-23523836
26	EARS2	NM_001083614.2(EARS2):c.558G>A (p.Ala186=)	SNV	Uncertain significance	318554	rs374363396	16:23546609-23546609	16:23535288-23535288
27	AIFM1	NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)	SNV	Uncertain significance	372555	rs1057517852	X:129264118-129264118	X:130130143-130130143
28	MRPS16	NM_016065.4(MRPS16):c.16A>C (p.Thr6Pro)	SNV	Uncertain significance	300724	rs141953041	10:75011779-75011779	10:73252021-73252021
29	MRPS16	NM_016065.4(MRPS16):c.275-7C>A	SNV	Uncertain significance	300718	rs886047199	10:75010756-75010756	10:73250998-73250998
30	MRPS16	NM_016065.4(MRPS16):c.247C>A (p.Leu83Ile)	SNV	Uncertain significance	300719	rs886047200	10:75011548-75011548	10:73251790-73251790
31	MRPS16	NM_016065.4(MRPS16):c.*1295T>A	SNV	Uncertain significance	300693	rs778852449	10:75009315-75009315	10:73249557-73249557
32	MRPS16	NM_016065.4(MRPS16):c.*642T>C	SNV	Uncertain significance	300703	rs145765900	10:75009968-75009968	10:73250210-73250210
33	MRPS16	NM_016065.4(MRPS16):c.*1074A>C	SNV	Uncertain significance	300696	rs530487067	10:75009536-75009536	10:73249778-73249778
34	MRPS16	NM_016065.4(MRPS16):c.*979C>G	SNV	Uncertain significance	300697	rs112218454	10:75009631-75009631	10:73249873-73249873
35	MRPS16	NM_016065.4(MRPS16):c.*593A>G	SNV	Uncertain significance	300706	rs886047193	10:75010017-75010017	10:73250259-73250259
36	MRPS16	NM_016065.4(MRPS16):c.*566A>G	SNV	Uncertain significance	300707	rs886047194	10:75010044-75010044	10:73250286-73250286
37	MRPS16	NM_016065.4(MRPS16):c.*280C>T	SNV	Uncertain significance	300713	rs181757719	10:75010330-75010330	10:73250572-73250572
38	MRPS16	NM_016065.4(MRPS16):c.*1391G>A	SNV	Uncertain significance	300692	rs139703406	10:75009219-75009219	10:73249461-73249461
39	MRPS16	NM_016065.4(MRPS16):c.*1150G>A	SNV	Uncertain significance	300695	rs79140810	10:75009460-75009460	10:73249702-73249702
40	MRPS16	NM_016065.4(MRPS16):c.*922G>A	SNV	Uncertain significance	300698	rs561890630	10:75009688-75009688	10:73249930-73249930
41	MRPS16	NM_016065.4(MRPS16):c.-120_-118del	deletion	Uncertain significance	300729	rs574159820	10:75012358-75012360	10:73252600-73252602
42	MRPS16	NM_016065.4(MRPS16):c.*742G>T	SNV	Uncertain significance	300700	rs886047189	10:75009868-75009868	10:73250110-73250110
43	MRPS16	NM_016065.4(MRPS16):c.*741A>T	SNV	Uncertain significance	300701	rs886047190	10:75009869-75009869	10:73250111-73250111
44	MRPS16	NM_016065.4(MRPS16):c.*502G>A	SNV	Uncertain significance	300709	rs560241550	10:75010108-75010108	10:73250350-73250350
45	MRPS16	NM_016065.4(MRPS16):c.*472C>T	SNV	Uncertain significance	300711	rs886047195	10:75010138-75010138	10:73250380-73250380
46	MRPS16	NM_016065.4(MRPS16):c.*450del	deletion	Uncertain significance	300712	rs886047196	10:75010160-75010160	10:73250402-73250402
47	MRPS16	NM_016065.4(MRPS16):c.275-5T>G	SNV	Uncertain significance	300717	rs763591161	10:75010754-75010754	10:73250996-73250996
48	MRPS16	NM_016065.4(MRPS16):c.*1860G>T	SNV	Uncertain significance	300686	rs886047186	10:75008750-75008750	10:73248992-73248992
49	MRPS16	NM_016065.4(MRPS16):c.*1503A>G	SNV	Uncertain significance	300690	rs2018198	10:75009107-75009107	10:73249349-73249349
50	MRPS16	NM_016065.4(MRPS16):c.1291_1293del	deletion	Uncertain significance	300694	rs767465725	10:75009317-75009319	10:73249559-73249561

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Expression for Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear...

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