MME (membrane metalloendopeptidase)

Gene

• Entrez ID: 4311
• Gene name: Membrane metalloendopeptidase
• Gene symbol: MME
• Synonyms (NCBI Gene): CALLA, CD10, CMT2T, NEP, SCA43, SFE
• Chromosome: 3
• Chromosome location: 3q25.2
• Summary: The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149905705	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs200435950	A>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs749320057	C>-	Pathogenic, risk-factor	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs764060752	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs765231758	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs765591205	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs777476150	C>A	Risk-factor	Genic downstream transcript variant, coding sequence variant, missense variant
rs781376762	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs879253751	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs879253752	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs879255651	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886039755	G>A	Risk-factor	Stop gained, coding sequence variant
rs1057519023	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1057519024	T>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1190163112	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1395068713	G>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1446583831	T>A,C	Likely-pathogenic	Splice donor variant
rs1553765316	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1559961997	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1559963660	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023833	hsa-miR-1-3p	Microarray	18668037
MIRT029646	hsa-miR-26b-5p	Microarray	19088304
MIRT1152994	hsa-miR-103a	CLIP-seq
MIRT1152995	hsa-miR-107	CLIP-seq
MIRT1152996	hsa-miR-1184	CLIP-seq
MIRT1152997	hsa-miR-141	CLIP-seq
MIRT1152998	hsa-miR-1827	CLIP-seq
MIRT1152999	hsa-miR-200a	CLIP-seq
MIRT1153000	hsa-miR-337-3p	CLIP-seq
MIRT1153001	hsa-miR-3612	CLIP-seq
MIRT1153002	hsa-miR-4418	CLIP-seq
MIRT1153003	hsa-miR-4443	CLIP-seq
MIRT1153004	hsa-miR-4452	CLIP-seq
MIRT1153005	hsa-miR-4771	CLIP-seq
MIRT1153006	hsa-miR-4802-5p	CLIP-seq
MIRT1153007	hsa-miR-509-3-5p	CLIP-seq
MIRT1153008	hsa-miR-509-5p	CLIP-seq
MIRT1153009	hsa-miR-650	CLIP-seq
MIRT1153010	hsa-miR-3646	CLIP-seq
MIRT1153011	hsa-miR-4720-3p	CLIP-seq
MIRT1153012	hsa-miR-4804-3p	CLIP-seq
MIRT1153013	hsa-miR-520f	CLIP-seq
MIRT1152994	hsa-miR-103a	CLIP-seq
MIRT1152995	hsa-miR-107	CLIP-seq
MIRT1153014	hsa-miR-1269	CLIP-seq
MIRT1153015	hsa-miR-1269b	CLIP-seq
MIRT1153016	hsa-miR-1283	CLIP-seq
MIRT1153017	hsa-miR-1303	CLIP-seq
MIRT1153018	hsa-miR-3145-5p	CLIP-seq
MIRT1153019	hsa-miR-331-5p	CLIP-seq
MIRT1153020	hsa-miR-3714	CLIP-seq
MIRT1153021	hsa-miR-4282	CLIP-seq
MIRT1153022	hsa-miR-4310	CLIP-seq
MIRT1153023	hsa-miR-4517	CLIP-seq
MIRT1153024	hsa-miR-4520b-3p	CLIP-seq
MIRT1153025	hsa-miR-4529-3p	CLIP-seq
MIRT1153026	hsa-miR-4747-5p	CLIP-seq
MIRT1153027	hsa-miR-668	CLIP-seq
MIRT2273226	hsa-miR-579	CLIP-seq
MIRT2431154	hsa-miR-1263	CLIP-seq
MIRT2431155	hsa-miR-128	CLIP-seq
MIRT1153017	hsa-miR-1303	CLIP-seq
MIRT2431156	hsa-miR-2116	CLIP-seq
MIRT2431157	hsa-miR-221	CLIP-seq
MIRT2431158	hsa-miR-222	CLIP-seq
MIRT2431159	hsa-miR-2467-3p	CLIP-seq
MIRT2431160	hsa-miR-3140-3p	CLIP-seq
MIRT2431161	hsa-miR-3161	CLIP-seq
MIRT2431162	hsa-miR-3173-3p	CLIP-seq
MIRT2431163	hsa-miR-3182	CLIP-seq
MIRT2431164	hsa-miR-3678-3p	CLIP-seq
MIRT2431165	hsa-miR-3689d	CLIP-seq
MIRT2431166	hsa-miR-376c	CLIP-seq
MIRT2431167	hsa-miR-3924	CLIP-seq
MIRT2431168	hsa-miR-4299	CLIP-seq
MIRT2431169	hsa-miR-4456	CLIP-seq
MIRT2431170	hsa-miR-4503	CLIP-seq
MIRT2431171	hsa-miR-452	CLIP-seq
MIRT2431172	hsa-miR-4659a-3p	CLIP-seq
MIRT2431173	hsa-miR-4659b-3p	CLIP-seq
MIRT2431174	hsa-miR-4672	CLIP-seq
MIRT2431175	hsa-miR-4676-3p	CLIP-seq
MIRT2431176	hsa-miR-4677-5p	CLIP-seq
MIRT2431177	hsa-miR-4708-5p	CLIP-seq
MIRT1153011	hsa-miR-4720-3p	CLIP-seq
MIRT2431178	hsa-miR-4768-3p	CLIP-seq
MIRT1153012	hsa-miR-4804-3p	CLIP-seq
MIRT2431179	hsa-miR-539	CLIP-seq
MIRT2431180	hsa-miR-548a-3p	CLIP-seq
MIRT2431181	hsa-miR-548e	CLIP-seq
MIRT2431182	hsa-miR-548f	CLIP-seq
MIRT2431183	hsa-miR-548q	CLIP-seq
MIRT2431184	hsa-miR-9	CLIP-seq
MIRT2571894	hsa-miR-106a	CLIP-seq
MIRT2571895	hsa-miR-106b	CLIP-seq
MIRT1153017	hsa-miR-1303	CLIP-seq
MIRT2571896	hsa-miR-142-5p	CLIP-seq
MIRT2571897	hsa-miR-17	CLIP-seq
MIRT2571898	hsa-miR-20a	CLIP-seq
MIRT2571899	hsa-miR-20b	CLIP-seq
MIRT2431160	hsa-miR-3140-3p	CLIP-seq
MIRT2571900	hsa-miR-3145-3p	CLIP-seq
MIRT2431162	hsa-miR-3173-3p	CLIP-seq
MIRT2571901	hsa-miR-3192	CLIP-seq
MIRT2571902	hsa-miR-3194-3p	CLIP-seq
MIRT2571903	hsa-miR-3545-3p	CLIP-seq
MIRT2571904	hsa-miR-3609	CLIP-seq
MIRT2431165	hsa-miR-3689d	CLIP-seq
MIRT2571905	hsa-miR-369-3p	CLIP-seq
MIRT2571906	hsa-miR-374a	CLIP-seq
MIRT2571907	hsa-miR-374b	CLIP-seq
MIRT2571908	hsa-miR-3918	CLIP-seq
MIRT2571909	hsa-miR-4273	CLIP-seq
MIRT2571910	hsa-miR-4314	CLIP-seq
MIRT2571911	hsa-miR-4504	CLIP-seq
MIRT2571912	hsa-miR-4646-5p	CLIP-seq
MIRT2431176	hsa-miR-4677-5p	CLIP-seq
MIRT2571913	hsa-miR-4738-3p	CLIP-seq
MIRT2571914	hsa-miR-4794	CLIP-seq
MIRT2571915	hsa-miR-4796-3p	CLIP-seq
MIRT2571916	hsa-miR-5095	CLIP-seq
MIRT2571917	hsa-miR-519d	CLIP-seq
MIRT2571918	hsa-miR-548ah	CLIP-seq
MIRT2571919	hsa-miR-548v	CLIP-seq
MIRT2571920	hsa-miR-552	CLIP-seq
MIRT2571921	hsa-miR-561	CLIP-seq
MIRT2571922	hsa-miR-600	CLIP-seq
MIRT2571923	hsa-miR-664	CLIP-seq
MIRT2571924	hsa-miR-764	CLIP-seq
MIRT2571925	hsa-miR-93	CLIP-seq
MIRT2571926	hsa-miR-935	CLIP-seq
MIRT2571894	hsa-miR-106a	CLIP-seq
MIRT2571895	hsa-miR-106b	CLIP-seq
MIRT1153017	hsa-miR-1303	CLIP-seq
MIRT2571896	hsa-miR-142-5p	CLIP-seq
MIRT2571897	hsa-miR-17	CLIP-seq
MIRT2685097	hsa-miR-186	CLIP-seq
MIRT2571898	hsa-miR-20a	CLIP-seq
MIRT2571899	hsa-miR-20b	CLIP-seq
MIRT2431160	hsa-miR-3140-3p	CLIP-seq
MIRT2571900	hsa-miR-3145-3p	CLIP-seq
MIRT1153018	hsa-miR-3145-5p	CLIP-seq
MIRT2431162	hsa-miR-3173-3p	CLIP-seq
MIRT2571901	hsa-miR-3192	CLIP-seq
MIRT2571902	hsa-miR-3194-3p	CLIP-seq
MIRT2685098	hsa-miR-3202	CLIP-seq
MIRT2571904	hsa-miR-3609	CLIP-seq
MIRT2431165	hsa-miR-3689d	CLIP-seq
MIRT2571905	hsa-miR-369-3p	CLIP-seq
MIRT2571906	hsa-miR-374a	CLIP-seq
MIRT2571907	hsa-miR-374b	CLIP-seq
MIRT2685099	hsa-miR-3913-3p	CLIP-seq
MIRT2571908	hsa-miR-3918	CLIP-seq
MIRT2571909	hsa-miR-4273	CLIP-seq
MIRT2571910	hsa-miR-4314	CLIP-seq
MIRT2685100	hsa-miR-4473	CLIP-seq
MIRT2571911	hsa-miR-4504	CLIP-seq
MIRT2685101	hsa-miR-4533	CLIP-seq
MIRT2571912	hsa-miR-4646-5p	CLIP-seq
MIRT2431176	hsa-miR-4677-5p	CLIP-seq
MIRT2571913	hsa-miR-4738-3p	CLIP-seq
MIRT2685102	hsa-miR-4775	CLIP-seq
MIRT2571914	hsa-miR-4794	CLIP-seq
MIRT2571915	hsa-miR-4796-3p	CLIP-seq
MIRT2571916	hsa-miR-5095	CLIP-seq
MIRT2685103	hsa-miR-512-3p	CLIP-seq
MIRT2571917	hsa-miR-519d	CLIP-seq
MIRT1153013	hsa-miR-520f	CLIP-seq
MIRT2571918	hsa-miR-548ah	CLIP-seq
MIRT2571919	hsa-miR-548v	CLIP-seq
MIRT2685104	hsa-miR-549	CLIP-seq
MIRT2571920	hsa-miR-552	CLIP-seq
MIRT2685105	hsa-miR-590-3p	CLIP-seq
MIRT2571922	hsa-miR-600	CLIP-seq
MIRT2571924	hsa-miR-764	CLIP-seq
MIRT2571925	hsa-miR-93	CLIP-seq
MIRT2571926	hsa-miR-935	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HOXC6	Repression	15637592
MYC	Activation	11519042
SP1	Unknown	14510963
SPI1	Unknown	15892171

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IDA	22183801
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IEP	22272689
GO:0001890	Process	Placenta development	IEA
GO:0002003	Process	Angiotensin maturation	IEA
GO:0004175	Function	Endopeptidase activity	IDA	8168535, 15100223, 15283675, 18539150, 20876573
GO:0004175	Function	Endopeptidase activity	IGI	14749444
GO:0004175	Function	Endopeptidase activity	IMP	2531377, 19057576, 24825898
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	6208535, 6349683, 15283675, 27588448
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IMP	2521388
GO:0005515	Function	Protein binding	IPI	17342744, 23289620, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	20876573, 22272689
GO:0005769	Component	Early endosome	IDA	15100223
GO:0005802	Component	Trans-Golgi network	IDA	15100223
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20876573, 22272689
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	2521388
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IDA	22272689
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006508	Process	Proteolysis	IDA	8168535, 15100223, 18539150, 18602473, 20876573, 27588448
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IGI	14749444
GO:0006508	Process	Proteolysis	IMP	19057576, 24825898
GO:0006518	Process	Peptide metabolic process	IEA
GO:0006518	Process	Peptide metabolic process	ISS
GO:0007611	Process	Learning or memory	IGI	24825898
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008238	Function	Exopeptidase activity	IDA	6208535
GO:0008270	Function	Zinc ion binding	IDA	8168535
GO:0009986	Component	Cell surface	NAS	15100223
GO:0010814	Process	Substance P catabolic process	IDA	6208535
GO:0010815	Process	Bradykinin catabolic process	IDA	6349683
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	2968607
GO:0016485	Process	Protein processing	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019233	Process	Sensory perception of pain	ISS
GO:0030163	Process	Protein catabolic process	IEA
GO:0030324	Process	Lung development	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	IGI	14749444
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IDA	15100223
GO:0036064	Component	Ciliary basal body	IDA
GO:0042277	Function	Peptide binding	IEA
GO:0042277	Function	Peptide binding	ISS
GO:0042447	Process	Hormone catabolic process	IDA	6349683
GO:0042803	Function	Protein homodimerization activity	IPI	22183801
GO:0043025	Component	Neuronal cell body	IDA	15100223
GO:0043025	Component	Neuronal cell body	IGI	24825898
GO:0043627	Process	Response to estrogen	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0044306	Component	Neuron projection terminus	ISS
GO:0045121	Component	Membrane raft	IDA	15100223, 22183801
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0046449	Process	Creatinine metabolic process	IMP	22024547
GO:0046872	Function	Metal ion binding	IEA
GO:0050435	Process	Amyloid-beta metabolic process	IEA
GO:0050435	Process	Amyloid-beta metabolic process	ISS
GO:0050769	Process	Positive regulation of neurogenesis	IGI	24825898
GO:0061837	Process	Neuropeptide processing	IGI	24825898
GO:0070012	Function	Oligopeptidase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071345	Process	Cellular response to cytokine stimulus	IDA	20876573
GO:0071492	Process	Cellular response to UV-A	IDA	20876573
GO:0071493	Process	Cellular response to UV-B	IDA	20876573
GO:0090399	Process	Replicative senescence	IEP	20876573
GO:0097242	Process	Amyloid-beta clearance	IBA
GO:0097242	Process	Amyloid-beta clearance	IDA	12657655, 15100223, 19057576
GO:0097242	Process	Amyloid-beta clearance	IEA
GO:0097242	Process	Amyloid-beta clearance	IGI	14749444
GO:0097242	Process	Amyloid-beta clearance	ISS
GO:0098793	Component	Presynapse	IGI	14749444
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IDA	15100223
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IEA
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	IGI	24825898
GO:0150094	Process	Amyloid-beta clearance by cellular catabolic process	ISS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1901612	Function	Cardiolipin binding	IDA	22183801

Other IDs

• MIM: 120520
• HGNC: 7154
• e!Ensembl: ENSG00000196549

Protein

• UniProt ID: P08473
• Protein name: Neprilysin (EC 3.4.24.11) (Atriopeptidase) (Common acute lymphocytic leukemia antigen) (CALLA) (Enkephalinase) (Neutral endopeptidase 24.11) (NEP) (Neutral endopeptidase) (Skin fibroblast elastase) (SFE) (CD antigen CD10)
• Protein function: Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:6208535, PubMed:6349683, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- a
• PDB: 1DMT, 1R1H, 1R1I, 1R1J, 1Y8J, 2QPJ, 2YB9, 4CTH, 5JMY, 6GID, 6SH1, 6SH2, 6SUK, 6SVY, 6THP, 6XVP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05649	Peptidase_M13_N	79 → 483	Peptidase family M13	Family
  PF01431	Peptidase_M13	543 → 749	Peptidase family M13	Family

• Sequence:

  MGKSESQMDITDINTPKPKKKQRWTPLEISLSVLVLLLTIIAVTMIALYATYDDGICKSS
  DCIKSAARLIQNMDATTEPCTDFFKYACGGWLKRNVIPETSSRYGNFDILRDELEVVLKD
  VLQEPKTEDIVAVQKAKALYRSCINESAIDSRGGEPLLKLLPDIYGWPVATENWEQKYGA
  SWTAEKAIAQLNSKYGKKVLINLFVGTDDKNSVNHVIHIDQPRLGLPSRDYYECTGIYKE
  ACTAYVDFMISVARLIRQEERLPIDENQLALEMNKVMELEKEIANATAKPEDRNDPMLLY
  NKMTLAQIQNNFSLEINGKPFSWLNFTNEIMSTVNISITNEEDVVVYAPEYLTKLKPILT
  KYSARDLQNLMSWRFIMDLVSSLSRTYKESRNAFRKALYGTTSETATWRRCANYVNGNME
  NAVGRLYVEAAFAGESKHVVEDLIAQIREVFIQTLDDLTWMDAETKKRAEEKALAIKERI
  GYPDDIVSNDNKLNNEYLELNYKEDEYFENIIQNLKFSQSKQLKKLREKVDKDEWISGAA
  VVNAFYSSGRNQIVFPAGILQPPFFSAQQSNSLNYGGIGMVIGHEITHGFDDNGRNFNKD
  GDLVDWWTQQSASNFKEQSQCMVYQYGNFSWDLAGGQHLNGINTLGENIADNGGLGQAYR
  AYQNYIKKNGEEKLLPGLDLNHKQLFFLNFAQVWCGTYRPEYAVNSIKTDVHSPGNFRII
  GTLQNSAEFSEAFHCRKNSYMNPEKKCRVW

• Sequence length: 750

Pathways

KEGG:

Renin-angiotensin system
Hematopoietic cell lineage
Protein digestion and absorption
Alzheimer disease

Reactome:

Metabolism of Angiotensinogen to Angiotensins
Neutrophil degranulation

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Charcot-Marie-Tooth disease axonal type 2T	Likely pathogenic; Pathogenic	rs200678412, rs2108261555, rs765778616, rs759072209, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs886039755, rs2473074693, rs2472967212, rs2473162385, rs2473073611, rs1722635259, rs2473161755, rs61758195, rs749320057, rs200435950, rs1395068713, rs1553765316, rs765231758, rs149905705, rs1559961997, rs1559963660, rs1190163112, rs201692212, rs1254522989, rs751149568	RCV001542568 RCV001787309 RCV002290769 RCV002290102 RCV000234889 RCV000234916 RCV000234863 RCV000234893 RCV000234912 RCV000254899 RCV003331980 RCV003444539 RCV003445419 RCV005409945 RCV004546816 RCV004555377 RCV005241311 RCV000255813 RCV003492079 RCV003492080 RCV001290399 RCV002290970 RCV005034189 RCV000754741 RCV000754742 RCV001353159 RCV001255622 RCV005622073 RCV001542567	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2	Likely pathogenic	rs1402177037	RCV002308494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2T	Likely pathogenic; Pathogenic	rs749320057	RCV003993985	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	Pathogenic	rs149905705	RCV000614012	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal myopathy	Likely pathogenic	rs201533045	RCV005626440	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MME-related disorder	Likely pathogenic; Pathogenic	rs2473057222, rs1722635259, rs149905705	RCV003399828 RCV003893522 RCV004751626	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MME-related distal hereditary motor neuropathies	Pathogenic	rs2473178464	RCV003988803	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs759072209	RCV005931687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic	rs201533045, rs879253752	RCV001814524 RCV001814126	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia 43	Likely pathogenic; Pathogenic	rs2108312675, rs371862411, rs879255651, rs749320057, rs1553765316, rs149905705, rs1254522989	RCV001849202 RCV005356149 RCV000239627 RCV001196532 RCV006438106 RCV001196533 RCV001196760	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive axonal hereditary motor and sensory neuropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Uncertain significance	ClinVar CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet CTD, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MEMBRANOUS NEPHROPATHY DUE TO FETOMATERNAL ANTI-NEUTRAL ENDOPEPTIDASE ALLOIMMUNIZATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNAJ HEAT SHOCK PROTEIN FAMILY MEMBER B2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset dementia of unclear type	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CEREBRAL AMYLOID ANGIOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MME-related autosomal dominant Charcot Marie Tooth disease type 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 43	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations