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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4359
Gene name	Myelin protein zero
Gene symbol	MPZ
Synonyms (NCBI Gene)	CHMCHN2CMT1CMT1BCMT2ICMT2JCMT4ECMTDI3CMTDIDDSSHMSNIBMPPP0
Chromosome	1
Chromosome location	1q23.3
Summary	This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extr

114

Show/Hide all (114)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913583	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913584	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs121913585	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913586	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913587	A>G	Pathogenic	Missense variant, coding sequence variant
rs121913588	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913589	C>A,G,T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913590	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913593	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913594	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913595	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs121913596	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913597	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913598	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913599	G>T	Pathogenic	Missense variant, coding sequence variant
rs121913600	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913601	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913602	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913603	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913604	C>G	Pathogenic	Missense variant, coding sequence variant
rs121913605	G>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913606	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913608	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121913609	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs144841836	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201156403	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202176679	C>G,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267607241	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607242	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607243	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs267607244	A>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607245	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs267607246	G>C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs267607247	C>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs281865121	A>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865122	A>T	Pathogenic	Missense variant, coding sequence variant
rs281865123	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865124	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865125	T>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs281865126	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865127	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs281865128	C>G,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs281865129	->A	Pathogenic	Coding sequence variant, frameshift variant
rs281865130	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs281865131	C>A	Pathogenic, uncertain-significance	Splice donor variant
rs281865132	G>A	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs281865133	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs371856018	T>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs377495735	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs572010627	A>C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs755446743	TCT>-	Not-provided, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, inframe deletion
rs760730366	GGGAGCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs770546306	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, coding sequence variant
rs786204119	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs786204215	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044845	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs797044941	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224449	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225025	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863225026	TCTGGGGGAGGGGCG>-	Pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs864622732	T>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876661257	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs876661287	C>A	Pathogenic	Missense variant, coding sequence variant
rs879253858	T>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254038	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs879254054	A>C	Pathogenic, uncertain-significance	Splice donor variant
rs879254109	GAG>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs879254297	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1017715903	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1057518021	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518839	A>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1060503423	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795521	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691852	C>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1182353109	A>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs1407955132	C>A	Likely-pathogenic	Splice donor variant
rs1427063795	T>C	Pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs1553259511	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553259529	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553259536	T>A	Pathogenic	Splice acceptor variant
rs1553259566	->CTGC	Pathogenic	Frameshift variant, coding sequence variant
rs1553259568	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553259643	TACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553259647	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259648	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259651	->TCAC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1553259656	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259662	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259663	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553259683	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs1553259697	->GTCAA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553259703	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553259707	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259790	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553259792	CAG>-,CAGCAG	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, inframe insertion
rs1553260014	C>T	Pathogenic	Splice donor variant
rs1553260017	->CATAGCTGGGGCAGGGGCAGGGGCCCGGAGC	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant
rs1558153994	G>A	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs1558154010	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1558154149	C>G,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs1558154193	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs1558154208	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1558154754	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571817103	CACT>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1571817544	CCT>G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1571817911	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571817966	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571818248	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1571819182	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1571819324	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1571819906	G>T	Pathogenic	Coding sequence variant, stop gained
rs1571819946	C>T	Pathogenic	Coding sequence variant, stop gained
rs1571820100	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1571820401	TGCAAGCAC>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT669027	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT669028	hsa-miR-4308	HITS-CLIP	23824327
MIRT669026	hsa-miR-4292	HITS-CLIP	23824327
MIRT669025	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT669024	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT669023	hsa-miR-1281	HITS-CLIP	23824327
MIRT669022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669021	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT669020	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669019	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669027	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT669028	hsa-miR-4308	HITS-CLIP	23824327
MIRT669026	hsa-miR-4292	HITS-CLIP	23824327
MIRT669025	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT669024	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT669023	hsa-miR-1281	HITS-CLIP	23824327
MIRT669022	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT669021	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT669020	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT669019	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT2045011	hsa-miR-3120-5p	CLIP-seq
MIRT2045012	hsa-miR-4279	CLIP-seq
MIRT2045013	hsa-miR-4768-5p	CLIP-seq
MIRT2045014	hsa-miR-593	CLIP-seq
MIRT2274199	hsa-miR-342-5p	CLIP-seq
MIRT2274200	hsa-miR-361-3p	CLIP-seq
MIRT2274201	hsa-miR-4286	CLIP-seq
MIRT2274202	hsa-miR-4313	CLIP-seq
MIRT2274203	hsa-miR-4447	CLIP-seq
MIRT2274204	hsa-miR-4472	CLIP-seq
MIRT2274205	hsa-miR-4651	CLIP-seq
MIRT2274206	hsa-miR-4664-5p	CLIP-seq
MIRT2274207	hsa-miR-579	CLIP-seq
MIRT2274208	hsa-miR-608	CLIP-seq
MIRT2274209	hsa-miR-625	CLIP-seq
MIRT2274210	hsa-miR-661	CLIP-seq

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Transcription factor	Regulation	Reference
EGR2	Unknown	21179557
SOX10	Unknown	21179557

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	7693129
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18337304
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	7693130
GO:0005886	Component	Plasma membrane	TAS	7506095
GO:0007268	Process	Chemical synaptic transmission	TAS	7693129
GO:0016020	Component	Membrane	IEA
GO:0042552	Process	Myelination	IBA
GO:0042552	Process	Myelination	IMP	10545037
GO:0043209	Component	Myelin sheath	IEA
GO:0045202	Component	Synapse	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IMP	18337304
GO:0098743	Process	Cell aggregation	IMP	18337304

MIM	HGNC	e!Ensembl
159440	7225	ENSG00000158887

P25189

Protein name

Myelin protein P0 (Myelin peripheral protein) (MPP) (Myelin protein zero)

Protein function

Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.

PDB

3OAI , 8IIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	33 → 147	Immunoglobulin V-set domain	Domain
PF10570	Myelin-PO_C	184 → 248	Myelin-PO cytoplasmic C-term p65 binding region	Domain

Tissue specificity

TISSUE SPECIFICITY: Found only in peripheral nervous system Schwann cells.

Sequence

MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSD
DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYS
DNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVR
YCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGL
GESRKDKK

Sequence length

248

Interactions

View interactions

	KEGG		Reactome
	Cell adhesion molecules		EGR2 and SOX10-mediated initiation of Schwann cell myelination

1090

Show/Hide Causal Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive Dejerine-Sottas syndrome	Likely pathogenic; Pathogenic	rs281865125	RCV002277116
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs786204215, rs786204119, rs121913586, rs281865128, rs797044845, rs863224449, rs770546306, rs864622732, rs879253858, rs879254054, rs879254109, rs760730366, rs121913583, rs121913584, rs121913589 View all (57 more)	RCV001173695 RCV000790119 RCV000789484 RCV000789471 RCV000789423 RCV000789460 RCV000789438 RCV000789432 RCV000789436 RCV000790116 RCV000790083 RCV000790073 RCV000789440 RCV000789441 RCV000790115 RCV001173692 RCV001173697 RCV000789479 RCV000192248 RCV001173698 RCV000790099 RCV001173691 RCV000790070 RCV000790098 RCV000789446 RCV000790084 RCV000789070 RCV000789485 RCV000790082 RCV000790095 RCV000789717 RCV000789483 RCV000789424 RCV000789426 RCV000789496 RCV000789486 RCV000789431 RCV000790074 RCV000789465 RCV000789497 RCV000789442 RCV000789448 RCV001173693 RCV000790075 RCV000789477 RCV000789450 RCV000790108 RCV000789428 RCV000790076 RCV000789468 RCV000790094 RCV000789498 RCV000790110 RCV000789457 RCV000789482 RCV000790100 RCV000789430 RCV000790087 RCV000789473 RCV000790097 RCV000790085 RCV000790088 RCV000789716 RCV000789443 RCV000789715 RCV000790105 RCV000790308 RCV000789464 RCV000790059 RCV000789455 RCV000790065 RCV000789461 RCV000789714 RCV000790056 RCV000790072 RCV001173696 RCV001173694 RCV001173699
Charcot-Marie-Tooth disease dominant intermediate D	Likely pathogenic; Pathogenic	rs2526244215, rs121913594, rs121913595, rs121913596, rs121913603, rs281865124, rs281865125, rs1553259643, rs1553259707, rs1558154010, rs1571817146, rs1456458087	RCV003326233 RCV004795414 RCV001262744 RCV000015247 RCV005862719 RCV003335061 RCV001705641 RCV003483698 RCV000664225 RCV000787935 RCV003152732 RCV004796314
Charcot-Marie-Tooth disease type 1B	Likely pathogenic; Pathogenic	rs1553259691, rs2102258343, rs1571818775, rs1553259536, rs121913586, rs281865128, rs797044845, rs863225025, rs371856018, rs879253858, rs879254054, rs879254109, rs760730366, rs1407955132, rs2526243073 View all (27 more)	RCV002246358 RCV002249103 RCV002250120 RCV002290418 RCV000194294 RCV000193606 RCV000193325 RCV000201196 RCV004760431 RCV000235064 RCV000015261 RCV000015231 RCV005624345 RCV005240733 RCV003482911 RCV000015229 RCV000015230 RCV000015234 RCV000015235 RCV000015236 RCV000015237 RCV000015238 RCV000015239 RCV000015240 RCV000015242 RCV000015245 RCV000190346 RCV000190345 RCV000192587 RCV000015255 RCV000015264 RCV000986450 RCV000033911 RCV000033913 RCV000033914 RCV000033916 RCV000033919 RCV000033921 RCV003483698 RCV004796314 RCV002249496 RCV003230591 RCV005253644 RCV003152749 RCV003224529
Charcot-Marie-Tooth disease type 2I	Pathogenic; Likely pathogenic	rs121913594, rs121913598, rs121913603, rs281865124, rs1553259643, rs1553259707, rs1456458087	RCV004795414 RCV000015249 RCV005862719 RCV003444056 RCV003483698 RCV005409710 RCV004796314
Charcot-Marie-Tooth disease type 2J	Pathogenic; Likely pathogenic	rs2526238696, rs121913594, rs121913595, rs121913597, rs121913603, rs1553259643, rs1558154010, rs1456458087	RCV003327337 RCV004795414 RCV000015244 RCV000015248 RCV005862719 RCV003483698 RCV003152728 RCV004796314
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS	Likely pathogenic; Pathogenic	rs121913601, rs121913602	RCV000015252 RCV000015253
Charcot-Marie-Tooth disease, type I	Likely pathogenic; Pathogenic	rs1571818614, rs1670257221, rs1553259691, rs2102257572, rs2102258958, rs2102259979, rs2102260263, rs2102259042, rs2102260015, rs2102257979, rs2102258700, rs2526238723, rs786204215, rs786204119, rs2526239029 View all (95 more)	RCV001349555 RCV001379624 RCV001378760 RCV001390456 RCV001382904 RCV001382906 RCV005094749 RCV001954621 RCV001966876 RCV001989844 RCV001929065 RCV003741319 RCV000168337 RCV000168067 RCV002648217 RCV001053594 RCV000538322 RCV000688094 RCV001852535 RCV002837992 RCV002844038 RCV002871699 RCV000198501 RCV000206430 RCV000464045 RCV003059368 RCV003047364 RCV000204639 RCV005090191 RCV000535237 RCV001390413 RCV003581906 RCV000812845 RCV000704216 RCV000803240 RCV001851867 RCV005089261 RCV000462311 RCV000638160 RCV000548074 RCV000196172 RCV001224917 RCV001385507 RCV000638155 RCV000638171 RCV001070451 RCV000638152 RCV001060346 RCV000546842 RCV000234112 RCV000795131 RCV003740795 RCV003848054 RCV003741178 RCV000813380 RCV000465572 RCV000474970 RCV000477088 RCV000470689 RCV000470371 RCV001042393 RCV001060274 RCV000703449 RCV002525053 RCV000704378 RCV000525895 RCV000554187 RCV000535579 RCV000539811 RCV000525582 RCV001051613 RCV003581567 RCV000693764 RCV001852684 RCV000205003 RCV000700463 RCV000638177 RCV000638153 RCV000638181 RCV000638180 RCV000638154 RCV000638166 RCV000638176 RCV000701835 RCV000690960 RCV000689231 RCV000700482 RCV000701482 RCV000696546 RCV000693325 RCV002532930 RCV001040610 RCV000797748 RCV002535801 RCV003581729 RCV001233191 RCV002535802 RCV001385506 RCV002536917 RCV003581717 RCV000812847 RCV003581727 RCV001869230 RCV001869231 RCV002536919 RCV001856237 RCV003581728 RCV001390412 RCV005092372 RCV001231857 RCV001044115 RCV001377519 RCV001323341 RCV003581726 RCV000818403 RCV000793801 RCV000811587 RCV001068529 RCV001036759 RCV001066303 RCV001048070 RCV001856276 RCV002558758 RCV003581779 RCV001220841 RCV001220495 RCV001215918 RCV001210626 RCV001204567
Decreased nerve conduction velocity	Likely pathogenic; Pathogenic	rs121913589	RCV000415463
Dejerine-Sottas disease	Pathogenic; Likely pathogenic	rs121913585, rs121913586, rs2526235696, rs1553259656, rs1553259568, rs281865121, rs1553259566, rs1558153994, rs797044941, rs1571819975	RCV000789439 RCV000032123 RCV003985980 RCV000790057 RCV000578395 RCV000789434 RCV005253016 RCV000789490 RCV000789474 RCV000789445
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	Pathogenic	rs121913585, rs121913586	RCV000015232 RCV000015233
Distal hereditary motor neuropathy type 2	Pathogenic	rs121913595	RCV002245981
Distal lower limb amyotrophy	Likely pathogenic; Pathogenic	rs121913589	RCV000415463
Distal muscle weakness	Likely pathogenic; Pathogenic	rs121913589	RCV000415463
EMG: neuropathic changes	Likely pathogenic	rs1057518839	RCV000414872
Hereditary neuropathy or pain disorder	Likely pathogenic; Pathogenic	rs121913601	RCV005865182
Intellectual disability	Likely pathogenic; Pathogenic	rs1571818248	RCV000850194
Limb muscle weakness	Likely pathogenic	rs1057518839	RCV000414872
Motor neuron disease	Likely pathogenic	rs2102260097	RCV001795878
MPZ-related disorder	Likely pathogenic; Pathogenic	rs371856018, rs121913587, rs121913589, rs121913601, rs121913603, rs1553259643, rs1558154149	RCV004689674 RCV005867759 RCV004528112 RCV005867760 RCV004528113 RCV004533201 RCV004533337 RCV002469277 RCV003317367
Neuropathy, congenital hypomyelinating, 2	Pathogenic	rs121913590, rs121913593, rs121913603, rs121913595, rs1553259568	RCV005410885 RCV000015241 RCV005862719 RCV000015260 RCV001775133
Peripheral neuropathy	Likely pathogenic	rs2102260263, rs1670228122	RCV001814362 RCV001541897
Pes cavus	Likely pathogenic; Pathogenic	rs121913589	RCV000415463
	Pathogenic; Likely pathogenic	rs121913599, rs1057518839, rs2526237995	RCV000015250 RCV001196260 RCV001197014
See cases	Likely pathogenic; Pathogenic	rs281865124	RCV003886367
Sensorimotor neuropathy	Likely pathogenic	rs1057518839	RCV000415393
Sensory neuropathy	Likely pathogenic; Pathogenic	rs121913589	RCV000415463
Tremor	Likely pathogenic	rs1057518839	RCV000414872

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1571822805	-
Acute myeloid leukemia	Benign	rs16832786	RCV005891503
Charcot-Marie-Tooth disease type 4E	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs34307129, rs16832790, rs202176679, rs886045474, rs60731755, rs774701563, rs145592910, rs750777955, rs886045472, rs372340608, rs886045473, rs149030537, rs16832786, rs140992541, rs772995394 View all (6 more)	RCV000271688 RCV000303851 RCV000296319 RCV000369359 RCV000286729 RCV000355341 RCV000329827 RCV000306731 RCV000295760 RCV000341490 RCV000332583 RCV000310426 RCV000373521 RCV000286154 RCV000293818 RCV000313368 RCV000353504 RCV000269004 RCV000262294 RCV000268795 RCV000282369
Charcot-Marie-Tooth, Intermediate	Uncertain significance; Benign	rs886045473, rs149030537, rs886045475	RCV000270444 RCV000302459 RCV000309818
Congenital hypomyelinating neuropathy	Conflicting classifications of pathogenicity	rs755446743	RCV000845000
Hereditary motor neuron disease	Uncertain significance	rs1558154208	RCV001027481
Tip-toe gait	no classifications from unflagged records; Conflicting classifications of pathogenicity	rs993720865, rs121913605	RCV003319578 RCV003318543

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenal Hyperplasia Congenital	Associate	36583008
Alcoholic Neuropathy	Associate	14742601, 17940173
Ataxia	Associate	12845552
Auditory neuropathy	Associate	12805115, 17765268
Autonomic Nervous System Diseases	Associate	26234237
Basal Ganglia Diseases	Associate	15377707
Bilateral Vestibulopathy	Associate	11080236
Charcot Marie Tooth Disease	Associate	10329755, 10764043, 11080236, 11080237, 11160475, 11545686, 12845552, 14742601, 15377707, 15716547, 16252242, 16543539, 16844954, 16912585, 17765268 View all (29 more)
Charcot Marie Tooth Disease Dominant Intermediate D	Associate	33825325
Charcot Marie Tooth disease Type 2B	Associate	10764043, 15377707, 20350294, 33179255, 37581289
Charcot Marie Tooth disease Type 2I	Associate	33825325
Charcot Marie Tooth disease Type 2J	Associate	26234237
Charcot Marie Tooth disease Type 4A	Associate	30257968, 37581289
Charcot Marie Tooth disease Type 4A axonal form	Associate	19293842
Charcot Marie Tooth disease Type 4E	Associate	10764043, 11080236, 16252242, 17940173, 20621479, 22176150, 37581289, 8816708
Charcot Marie Tooth disease X linked recessive 2	Associate	10764043
Colorectal Neoplasms	Associate	37728516
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	37728516
Deafness	Associate	11080237, 12805115, 15377707
Demyelinating Diseases	Associate	11080236, 17940173, 19293842, 22176150, 22451207, 24053775, 31769568, 8871588
Disease	Associate	12805115, 16543539
Dyspnea	Associate	21840889
Endometrial Neoplasms	Associate	37728516
Facial Nerve Diseases	Associate	11080236
Foot Deformities	Associate	15716547
Genetic Diseases Inborn	Associate	10727485
Glucosephosphate Dehydrogenase Deficiency	Associate	37728516
Hashimoto's encephalitis	Associate	11080236
Hearing Disorders	Associate	12805115
Hearing Loss	Associate	16844954, 17765268
Hemifacial Spasm	Associate	30920665
Hereditary Sensory and Autonomic Neuropathies	Associate	37372933
Hereditary Sensory and Motor Neuropathy	Associate	10329755, 10406984, 10764043, 11080236, 12805115, 16252242, 16844954, 17940173, 29670817, 31173589, 8816708
Hypesthesia	Associate	15716547
Immune System Diseases	Associate	10727485
Inherited Peripheral Neuropathy	Associate	37581289
Monoclonal Gammopathy of Undetermined Significance	Associate	11876747
Multiple Sclerosis Relapsing Remitting	Associate	28032003
Muscle Cramp	Associate	15716547, 27088055
Muscle Hypotonia	Associate	21840889, 22176150, 27353517
Muscle Weakness	Associate	11080236, 11080237, 12845552
Muscular Atrophy	Associate	11080237
Neoplastic Syndromes Hereditary	Associate	11080236, 12845552, 21840889, 22704856, 28902413, 36567457, 37372933, 37581289
Nerve Degeneration	Associate	12845552
Nervous System Diseases	Associate	11080237, 16252242, 16844954, 22176150, 22704856, 22734905, 26310628, 31173589, 37581289
Neuralgia	Associate	22704856
Neurofibroma Plexiform	Associate	15255999
Neuromuscular Diseases	Associate	32154989
Neuropathy Painful	Associate	16844954
Peripheral Nervous System Diseases	Associate	14742601, 16252242, 17940173, 26310628
Polyneuropathies	Associate	11876747, 17940173, 27164712, 30677751
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	11080236, 28257655
Polyradiculopathy	Associate	33179255
Pupil Disorders	Associate	12845552, 15377707, 27088055
Radiculopathy	Associate	27088055, 33179255
Recurrence	Associate	11160475
Reflex Abnormal	Associate	12845552
Restless Legs Syndrome	Associate	16844954
Scoliosis	Associate	26310628
Sensation Disorders	Associate	11080237, 12845552
Spinal Diseases	Associate	33179255
Squamous Cell Carcinoma of Head and Neck	Associate	37876534
Tonic Pupil	Associate	11080237
Trigeminal Neuralgia	Associate	30920665
Usher syndrome type 1E	Associate	35886002

MPZ (myelin protein zero)