Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4358
Gene name	Mitochondrial inner membrane protein MPV17
Gene symbol	MPV17
Synonyms (NCBI Gene)	CMT2EEMTDPS6SYM1
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by

Show/Hide all (42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35759430	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs113055360	T>C,G	Pathogenic	Splice acceptor variant
rs121909721	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909723	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909724	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs138199394	A>G	Pathogenic	Splice donor variant
rs140992482	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs142493907	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant
rs147952488	A>G	Pathogenic	Splice donor variant
rs200504529	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs200938111	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs267607256	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607257	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs267607258	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs267607261	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs267607263	TTC>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs267607264	ACA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs267607266	G>-,GG	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs267607268	C>T	Pathogenic	Intron variant
rs367838807	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs368900406	A>C	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant
rs375401970	G>C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs397507438	TGGTGTTCCTGCAGACCCCGCCTCTC>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs749361266	C>T	Likely-pathogenic	Splice donor variant
rs754051090	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs755624411	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766160589	C>-,CC	Pathogenic	Splice acceptor variant, coding sequence variant
rs772370243	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs777604559	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs863224072	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs863224074	G>A	Pathogenic	Coding sequence variant, stop gained
rs886044113	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886044280	C>G	Pathogenic	Splice acceptor variant
rs1057524366	T>C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1064793178	C>G,T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1423840146	C>T	Pathogenic	Splice acceptor variant
rs1553383467	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553383480	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1572542092	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1572542511	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1572543564	C>A	Pathogenic	Splice donor variant
rs1572555080	C>G	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant

154

Show/Hide all (154)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023393	hsa-miR-122-5p	Microarray	17612493
MIRT030312	hsa-miR-26b-5p	Microarray	19088304
MIRT046366	hsa-miR-23b-3p	CLASH	23622248
MIRT045337	hsa-miR-185-5p	CLASH	23622248
MIRT1156970	hsa-miR-1207-5p	CLIP-seq
MIRT1156971	hsa-miR-122	CLIP-seq
MIRT1156972	hsa-miR-1224-5p	CLIP-seq
MIRT1156973	hsa-miR-1255a	CLIP-seq
MIRT1156974	hsa-miR-1255b	CLIP-seq
MIRT1156975	hsa-miR-1256	CLIP-seq
MIRT1156976	hsa-miR-1276	CLIP-seq
MIRT1156977	hsa-miR-1303	CLIP-seq
MIRT1156978	hsa-miR-1304	CLIP-seq
MIRT1156979	hsa-miR-142-5p	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT1156981	hsa-miR-1909	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156983	hsa-miR-3135b	CLIP-seq
MIRT1156984	hsa-miR-3145-3p	CLIP-seq
MIRT1156985	hsa-miR-3150b-3p	CLIP-seq
MIRT1156986	hsa-miR-3177-5p	CLIP-seq
MIRT1156987	hsa-miR-3184	CLIP-seq
MIRT1156988	hsa-miR-340	CLIP-seq
MIRT1156989	hsa-miR-3909	CLIP-seq
MIRT1156990	hsa-miR-3915	CLIP-seq
MIRT1156991	hsa-miR-3974	CLIP-seq
MIRT1156992	hsa-miR-421	CLIP-seq
MIRT1156993	hsa-miR-423-5p	CLIP-seq
MIRT1156994	hsa-miR-4256	CLIP-seq
MIRT1156995	hsa-miR-4261	CLIP-seq
MIRT1156996	hsa-miR-4274	CLIP-seq
MIRT1156997	hsa-miR-4294	CLIP-seq
MIRT1156998	hsa-miR-4302	CLIP-seq
MIRT1156999	hsa-miR-4311	CLIP-seq
MIRT1157000	hsa-miR-4422	CLIP-seq
MIRT1157001	hsa-miR-4432	CLIP-seq
MIRT1157002	hsa-miR-4450	CLIP-seq
MIRT1157003	hsa-miR-4481	CLIP-seq
MIRT1157004	hsa-miR-4487	CLIP-seq
MIRT1157005	hsa-miR-4497	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT1157007	hsa-miR-4688	CLIP-seq
MIRT1157008	hsa-miR-4689	CLIP-seq
MIRT1157009	hsa-miR-4697-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157011	hsa-miR-4709-5p	CLIP-seq
MIRT1157012	hsa-miR-4711-3p	CLIP-seq
MIRT1157013	hsa-miR-4738-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157015	hsa-miR-4745-5p	CLIP-seq
MIRT1157016	hsa-miR-4758-5p	CLIP-seq
MIRT1157017	hsa-miR-4763-3p	CLIP-seq
MIRT1157018	hsa-miR-4774-5p	CLIP-seq
MIRT1157019	hsa-miR-4784	CLIP-seq
MIRT1157020	hsa-miR-4796-5p	CLIP-seq
MIRT1157021	hsa-miR-4802-5p	CLIP-seq
MIRT1157022	hsa-miR-491-5p	CLIP-seq
MIRT1157023	hsa-miR-493	CLIP-seq
MIRT1157024	hsa-miR-495	CLIP-seq
MIRT1157025	hsa-miR-499-5p	CLIP-seq
MIRT1157026	hsa-miR-515-3p	CLIP-seq
MIRT1157027	hsa-miR-519e	CLIP-seq
MIRT1157028	hsa-miR-582-3p	CLIP-seq
MIRT1157029	hsa-miR-583	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1157031	hsa-miR-802	CLIP-seq
MIRT1157032	hsa-miR-940	CLIP-seq
MIRT1156977	hsa-miR-1303	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT2044988	hsa-miR-299-3p	CLIP-seq
MIRT1156986	hsa-miR-3177-5p	CLIP-seq
MIRT1156996	hsa-miR-4274	CLIP-seq
MIRT1156998	hsa-miR-4302	CLIP-seq
MIRT1157000	hsa-miR-4422	CLIP-seq
MIRT1157001	hsa-miR-4432	CLIP-seq
MIRT2044989	hsa-miR-4491	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT2044990	hsa-miR-4649-3p	CLIP-seq
MIRT2044991	hsa-miR-4657	CLIP-seq
MIRT1157009	hsa-miR-4697-3p	CLIP-seq
MIRT2044992	hsa-miR-4699-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157025	hsa-miR-499-5p	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1156971	hsa-miR-122	CLIP-seq
MIRT1156975	hsa-miR-1256	CLIP-seq
MIRT2044988	hsa-miR-299-3p	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156989	hsa-miR-3909	CLIP-seq
MIRT1157001	hsa-miR-4432	CLIP-seq
MIRT2044989	hsa-miR-4491	CLIP-seq
MIRT2274168	hsa-miR-4540	CLIP-seq
MIRT2044991	hsa-miR-4657	CLIP-seq
MIRT1157021	hsa-miR-4802-5p	CLIP-seq
MIRT1157025	hsa-miR-499-5p	CLIP-seq
MIRT1157026	hsa-miR-515-3p	CLIP-seq
MIRT1157027	hsa-miR-519e	CLIP-seq
MIRT2274169	hsa-miR-541	CLIP-seq
MIRT2274170	hsa-miR-554	CLIP-seq
MIRT2274171	hsa-miR-561	CLIP-seq
MIRT2274172	hsa-miR-654-5p	CLIP-seq
MIRT1156970	hsa-miR-1207-5p	CLIP-seq
MIRT1156976	hsa-miR-1276	CLIP-seq
MIRT1156979	hsa-miR-142-5p	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT2572922	hsa-miR-2682	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156983	hsa-miR-3135b	CLIP-seq
MIRT1156988	hsa-miR-340	CLIP-seq
MIRT1156997	hsa-miR-4294	CLIP-seq
MIRT1156999	hsa-miR-4311	CLIP-seq
MIRT1157003	hsa-miR-4481	CLIP-seq
MIRT1157004	hsa-miR-4487	CLIP-seq
MIRT1157005	hsa-miR-4497	CLIP-seq
MIRT2572923	hsa-miR-449c	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT2572924	hsa-miR-4633-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157012	hsa-miR-4711-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157015	hsa-miR-4745-5p	CLIP-seq
MIRT1157017	hsa-miR-4763-3p	CLIP-seq
MIRT1157020	hsa-miR-4796-5p	CLIP-seq
MIRT1157024	hsa-miR-495	CLIP-seq
MIRT1157029	hsa-miR-583	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1157031	hsa-miR-802	CLIP-seq
MIRT1157032	hsa-miR-940	CLIP-seq
MIRT1156970	hsa-miR-1207-5p	CLIP-seq
MIRT1156976	hsa-miR-1276	CLIP-seq
MIRT1156979	hsa-miR-142-5p	CLIP-seq
MIRT1156980	hsa-miR-1827	CLIP-seq
MIRT2572922	hsa-miR-2682	CLIP-seq
MIRT1156982	hsa-miR-3135	CLIP-seq
MIRT1156983	hsa-miR-3135b	CLIP-seq
MIRT1156988	hsa-miR-340	CLIP-seq
MIRT1156997	hsa-miR-4294	CLIP-seq
MIRT1156999	hsa-miR-4311	CLIP-seq
MIRT1157004	hsa-miR-4487	CLIP-seq
MIRT1157005	hsa-miR-4497	CLIP-seq
MIRT2572923	hsa-miR-449c	CLIP-seq
MIRT1157006	hsa-miR-4509	CLIP-seq
MIRT2572924	hsa-miR-4633-3p	CLIP-seq
MIRT1157010	hsa-miR-4709-3p	CLIP-seq
MIRT1157012	hsa-miR-4711-3p	CLIP-seq
MIRT1157014	hsa-miR-4744	CLIP-seq
MIRT1157017	hsa-miR-4763-3p	CLIP-seq
MIRT1157020	hsa-miR-4796-5p	CLIP-seq
MIRT1157024	hsa-miR-495	CLIP-seq
MIRT1157029	hsa-miR-583	CLIP-seq
MIRT1157030	hsa-miR-767-5p	CLIP-seq
MIRT1157031	hsa-miR-802	CLIP-seq
MIRT1157032	hsa-miR-940	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16582910
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	16582910
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005777	Component	Peroxisome	IDA	16582910
GO:0005777	Component	Peroxisome	NAS	7957077
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0015267	Function	Channel activity	IBA
GO:0015267	Function	Channel activity	IMP	25861990
GO:0016020	Component	Membrane	IEA
GO:0032836	Process	Glomerular basement membrane development	ISS
GO:0034614	Process	Cellular response to reactive oxygen species	ISS
GO:0042592	Process	Homeostatic process	IMP	16582910
GO:0048839	Process	Inner ear development	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:1901858	Process	Regulation of mitochondrial DNA metabolic process	IBA
GO:1901858	Process	Regulation of mitochondrial DNA metabolic process	IMP	26760297
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	ISS

MIM	HGNC	e!Ensembl
137960	7224	ENSG00000115204

P39210

Protein name

Mitochondrial inner membrane protein Mpv17 (Protein Mpv17)

Protein function

Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeost

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04117	Mpv17_PMP22	109 → 170	Mpv17 / PMP22 family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. {ECO:0000269|PubMed:16582910}.

Sequence

MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCG
FVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNW
AKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL

Sequence length

176

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal protein import

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease, axonal, type 2EE	Likely pathogenic; Pathogenic	rs763400903, rs2148216335, rs774833271, rs1054997754, rs751134093, rs1469699202, rs2465683526, rs770838975, rs2465681506, rs2465685264, rs863224074, rs777604559, rs766160589, rs2465682200, rs1572542511 View all (24 more)	RCV002499772 RCV003469703 RCV001825317 RCV003471215 RCV003471121 View all (37 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial disease	Pathogenic	rs121909721	RCV004786268	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome	Pathogenic; Likely pathogenic	rs121909721, rs121909724, rs375401970, rs267607257, rs267607258, rs267607268, rs140992482	RCV002509162 RCV005406748 RCV003401418 RCV003111578 RCV003478980 RCV003331860 RCV003226382 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	Pathogenic; Likely pathogenic	rs121909723, rs375401970, rs267607261, rs267607267, rs140992482	RCV003227464 RCV003227483 RCV003227465 RCV003227466 RCV003227501	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	Likely pathogenic; Pathogenic	rs763400903, rs774833271, rs1469699202, rs770838975, rs2465681506, rs777604559, rs766160589, rs121909721, rs121909722, rs121909723, rs121909724, rs1025721902, rs375401970, rs886044113, rs749361266 View all (23 more)	RCV002499772 RCV001825317 RCV005025513 RCV005023455 RCV005028319 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial DNA maintenance disorder	Likely pathogenic; Pathogenic	rs267607258	RCV005867802	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MPV17-related disorder	Pathogenic; Likely pathogenic	rs770838975, rs121909721, rs267607258, rs138199394, rs140992482	RCV004733604 RCV004732550 RCV000312148 RCV004723149 RCV004733041	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MPV17-related mitochondrial DNA maintenance defect	Likely pathogenic; Pathogenic	rs267607261	RCV000735226	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs748500676, rs147952488	RCV005931407 RCV005888841	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COCHLEAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 15	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 6	—	CTD, ClinVar, HPO CTD, ClinVar, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome, hepatocerebral form	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (87)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	22422207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	28026881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31278193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	19012992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30509056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35919033	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37152370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	18695062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24321534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear Diseases	CTD_human_DG	18818194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	17053512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 1	Combined oxidative phosphorylation deficiency	Pubtator	26437932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deoxyguanosine Kinase Deficiency	Deoxyguanosine kinase deficiency	Pubtator	20042463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deoxyguanosine Kinase Deficiency	Deoxyguanosine Kinase Deficiency	BEFREE	20074988, 28188263, 28673863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Electron Transport Chain Deficiencies, Mitochondrial	Mitochondrial Electron Transport Chain Deficiencies	CTD_human_DG	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	30273399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	20614188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	18818194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	18818194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	30385507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	15189984, 7564095, 8281143, 9658163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	23714749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	19012992, 24894789, 30385507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	9658163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	30808856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	CTD_human_DG	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	36833258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15189984, 16582910, 18818194, 7564095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	15189984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	18329934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	22508010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	19012992, 23714749, 27482763, 34979697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	17694548, 20074988, 20614188, 24247928, 24321534, 28673863, 31664948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	LHGDN	17694548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	GENOMICS_ENGLAND_DG	18695062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19012992, 24894789, 25129007, 29282788, 31664948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	27482763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30385507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	22824774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	CTD_human_DG	18818194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	17053512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	CTD_human_DG	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple synostosis syndrome	Multiple Synostoses Syndrome	BEFREE	10080184		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	22824774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22824774, 23714749, 24894789, 30385507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	29272804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	29282788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Navajo Familial Neurogenic Arthropathy	Navajo Familial Neurogenic Arthropathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	UNIPROT_DG	16582907, 16582910, 16909392, 17694548, 18695062, 19520594, 20074988, 23714749, 23829229, 25129007, 25861990, 26741492, 27536553, 28207748, 29282788, 30833296 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	GENOMICS_ENGLAND_DG	16582910, 18695062, 22508010, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	BEFREE	16909392, 18261905, 22422207, 26437932, 29282788, 30298599		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Navajo neurohepatopathy	Navajo neurohepatopathy	Pubtator	16909392, 26437932, 29282788	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	CLINVAR_DG	17694548, 18695062, 19520594, 20074988, 22508010, 23714749, 23829229, 24190800, 25016221, 25129007, 25861990, 26741492, 27536553, 29282788		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Navajo neurohepatopathy	Navajo Neurohepatopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAVAJO NEUROHEPATOPATHY	Navajo Neurohepatopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	8281143, 9447939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34979697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22508010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxidative Phosphorylation Deficiencies	Oxidative Phosphorylation Deficiency	CTD_human_DG	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	26437932, 29282788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26437932, 29282788, 34979697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29282788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pigmentation Disorders	Pigmentation Disorders	CTD_human_DG	18818194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	LHGDN	18329934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	8281143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	BEFREE	10080184, 31370824, 7557985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	19012992, 22137549, 22824774, 23714749, 25129007, 30273399, 30385507, 30509056, 31664948, 32155188, 32703289, 34979697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MPV17 (mitochondrial inner membrane protein MPV17)