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	4311
Gene name	Membrane metalloendopeptidase
Gene symbol	MME
Synonyms (NCBI Gene)	CALLACD10CMT2TNEPSCA43SFE
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

Show/Hide all (20)

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

157

Show/Hide all (157)

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

Show/Hide all (4)

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

Show/Hide all (96)

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

MIM	HGNC	e!Ensembl
120520	7154	ENSG00000196549

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

Interactions

View interactions

	KEGG		Reactome
	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption Alzheimer disease		Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation

146

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (14 more)	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
Charcot-Marie-Tooth disease type 2	Likely pathogenic	rs1402177037	RCV002308494
Charcot-Marie-Tooth disease type 2T	Likely pathogenic; Pathogenic	rs749320057	RCV003993985
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	Pathogenic	rs149905705	RCV000614012
Distal myopathy	Likely pathogenic	rs201533045	RCV005626440
MME-related disorder	Likely pathogenic; Pathogenic	rs2473057222, rs1722635259, rs149905705	RCV003399828 RCV003893522 RCV004751626
MME-related distal hereditary motor neuropathies	Pathogenic	rs2473178464	RCV003988803
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs759072209	RCV005931687
Peripheral neuropathy	Likely pathogenic	rs201533045, rs879253752	RCV001814524 RCV001814126
See cases	Likely pathogenic; Pathogenic	rs749320057	RCV004797819
Spinocerebellar ataxia 43	Likely pathogenic; Pathogenic	rs2108312675, rs371862411, rs879255651, rs749320057, rs1553765316, rs149905705, rs1254522989	RCV001849202 RCV005356149 RCV000239627 RCV001196532 RCV006438106 RCV001196533 RCV001196760

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive axonal hereditary motor and sensory neuropathy	Uncertain significance	rs145687755	RCV000664251
Cervical cancer	Benign	rs61762319, rs9819906	RCV005915189 RCV005917318
Charcot-Marie-Tooth disease	Uncertain significance	rs778011002	RCV005250233
Early-onset dementia of unclear type	Conflicting classifications of pathogenicity	rs202095767	RCV001090111
Familial cancer of breast	Conflicting classifications of pathogenicity	rs201494121	RCV005925642
Gastric cancer	Likely benign	rs778411008	RCV005925436
Hepatocellular carcinoma	Benign	rs61762319	RCV005915187
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs138218277	RCV001374536
Lung cancer	Benign	rs79413638	RCV005919799
Malignant tumor of urinary bladder	Uncertain significance	rs1085307704	RCV005899714
MME-related autosomal dominant Charcot Marie Tooth disease type 2	Uncertain significance	rs367899772, rs201910473, rs767928746	RCV003994372 RCV002221410 RCV001824932
Nonpapillary renal cell carcinoma	Benign	rs61762319	RCV005915188
Sarcoma	Benign	rs61762319	RCV005915191
Uterine carcinosarcoma	Benign; Likely benign	rs141681458	RCV005917819
Uterine corpus endometrial carcinoma	Benign	rs79413638, rs9819906	RCV005919800 RCV005917319
Uveal melanoma	Benign	rs61762319	RCV005915190

Show/Hide Text Mining Associations (285)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	18317569, 19019493, 32751344
Achalasia Addisonianism Alacrimia syndrome	Stimulate	29785017
Achalasia Addisonianism Alacrimia syndrome	Associate	32311849
Acute Coronary Syndrome	Associate	36649888
Acute Kidney Injury	Associate	36285332
Adenoameloblastoma	Stimulate	25608772
Adenocarcinoma	Stimulate	14736279
Adenocarcinoma	Associate	25759539, 29704385, 32713922, 38062562
Adenocarcinoma Mucinous	Associate	25759539, 34487022
Adenocarcinoma of Lung	Associate	26141216
Adenoma	Associate	16400326, 16804962
Adenomyosis	Associate	25826497
Adenosarcoma	Inhibit	35876683
Adenosarcoma of the uterus	Associate	15571618, 35876683, 36639698
Adjustment Disorders	Associate	25619965
Alagille Syndrome	Inhibit	17876294
Albuminuria	Associate	29854824
Alcoholic Neuropathy	Associate	26991897, 33144514
Alzheimer Disease	Associate	15548496, 19250583, 24528201, 24731980, 25089527, 25452160, 25673500, 29607920, 33314757, 40465637
Alzheimer Disease	Inhibit	19897485, 20663017, 21382117, 24848988, 36858574
Ameloblastoma	Associate	21609487, 22300665, 26386615, 35484883
Amyloid angiopathy	Associate	19019493
Amyloidosis	Associate	21551363
Aneuploidy	Associate	31816181
Angina Unstable	Stimulate	36649888
Angioedema	Associate	23838604, 32080354
Arthritis Rheumatoid	Associate	26355501
Ataxia Telangiectasia	Associate	11781247
Atresia of small intestine	Associate	25759539
Autoimmune Lymphoproliferative Syndrome	Associate	31714901
Basal Ganglia Diseases	Associate	35212467
Brain Injuries Traumatic	Associate	19326964
Brain Neoplasms	Associate	15677540
Breast Neoplasms	Associate	15166269, 17143263, 22235100, 22791584, 23063927, 23713046, 25287138, 27340107, 27461629, 29306324, 34363355, 34958060, 35132081, 36412437, 36418470, 36685105, 38244435, 38281565 View all (3 more)
Breast Neoplasms	Inhibit	37585411
Bronchiolitis Obliterans Syndrome	Associate	33932293
Burkitt Lymphoma	Associate	11389007, 1375849, 2138527, 25612555, 3033649, 31816181, 32497402, 33994432, 35408790, 6973348
Burkitt Lymphoma	Stimulate	22358360
Calcinosis Cutis	Associate	20303042
Carcinogenesis	Inhibit	12122282
Carcinoma	Associate	15677540
Carcinoma Basal Cell	Associate	18065959, 21225496, 21681600, 35636508
Carcinoma Ductal	Inhibit	37585411
Carcinoma Hepatocellular	Stimulate	11583969
Carcinoma Hepatocellular	Associate	16189153, 28669080, 33054843, 40139029
Carcinoma in Situ	Associate	21956856
Carcinoma Intraductal Noninfiltrating	Associate	15166269, 20574156, 20856894, 26397772, 26562027
Carcinoma Neuroendocrine	Associate	26830028
Carcinoma Non Small Cell Lung	Associate	21681600, 7962523
Carcinoma Pancreatic Ductal	Associate	32070494
Carcinoma Papillary	Associate	26141216
Carcinoma Renal Cell	Associate	15286660, 15502805, 15696118, 16740034, 16948517, 1699423, 17425399, 17683191, 19961253, 20303042, 22260386, 22369180, 24427344, 24618616, 24625422 View all (4 more)
Carcinoma Renal Cell	Stimulate	33608777
Carcinoma Small Cell	Inhibit	1660144
Carcinoma Small Cell	Associate	7962523
Carcinoma Squamous Cell	Associate	12946229, 21681600
Carcinoma Squamous Cell	Stimulate	20874839
Cardiovascular Diseases	Associate	28862951
Cerebral Amyloid Angiopathy	Associate	12754344
Cerebral Amyloid Angiopathy	Inhibit	21382117
Chanarin Dorfman Syndrome	Associate	25565308
Charcot Marie Tooth Disease	Associate	30257968, 31429185, 33144514, 35212467
Charcot Marie Tooth disease Type 2B	Associate	35212467
Cholestasis	Inhibit	17876294
Choriocarcinoma	Associate	11092533
Choristoma	Associate	34844098
Chromosome Aberrations	Inhibit	12949884
Clear cell metastatic renal cell carcinoma	Associate	16740034, 17207277
Clostridium Infections	Inhibit	38514010
Cluster Headache	Associate	27957625
Cognition Disorders	Associate	20663017, 21551363
Cognitive Dysfunction	Associate	22008264
Colitis Ulcerative	Inhibit	29232715
Colorectal Neoplasms	Associate	17970075, 21599811, 27460083, 29653092, 34285715
Common Variable Immunodeficiency	Associate	37997558
Composite Lymphoma	Associate	10494126
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	14736286
COVID 19	Associate	32581077, 36622345
Crohn Disease	Associate	21804528
Cytomegalovirus Infections	Associate	21804528
Death	Associate	17143263, 21538124, 21681600
Dementia	Inhibit	23268705
Dementia	Associate	36191742
Dental Plaque	Associate	36649888
Dentigerous Cyst	Associate	21609487
Diabetes Mellitus Type 2	Associate	29561187
Diabetic Nephropathies	Associate	29854824
Disease	Associate	2931454
Distal Hereditary Motor Neuropathy Type II	Associate	31429185, 39232784
Down Syndrome	Inhibit	28250274
Drug Related Side Effects and Adverse Reactions	Associate	21382117
Duodenitis	Associate	27729741
Endometrial Neoplasms	Associate	25282623, 26830028, 31902687, 7819049
Endometrial Stromal Tumors	Associate	15571618
Endometriosis	Associate	23653392, 25826497, 26743275, 34844098, 36219681
Esophageal Achalasia	Associate	24468662
Esophageal Neoplasms	Associate	32356485
Esophageal Squamous Cell Carcinoma	Inhibit	31054987
Esophageal Squamous Cell Carcinoma	Associate	32356485
Facial Nerve Diseases	Associate	39232784
Fibroadenoma	Associate	15677540, 2541615
Fibrocystic Breast Disease	Associate	23356903, 37147950
Fibrosarcoma	Associate	32957984
Fibrosis	Associate	20864690
Gallbladder Neoplasms	Associate	34876625
Gastrointestinal Diseases	Associate	27513891
GATA2 Deficiency	Associate	33526873
Gestational Trophoblastic Disease	Associate	11092533
Glioblastoma	Associate	38174685
Gliosarcoma	Stimulate	15571618
Gliosarcoma	Inhibit	35876683
Glomerulonephritis	Associate	20864690
Glomerulonephritis Membranous	Associate	25565308, 25723631
Glomerulosclerosis Focal Segmental	Inhibit	26536600
Glucosephosphate Dehydrogenase Deficiency	Associate	25677060
Heart Diseases	Associate	30148170
Heart Failure	Associate	24138103, 24983826, 26589601, 28862951, 30148170, 33638612, 34831146, 37798313
Hemangioblastoma	Associate	24040464, 31372897
Hemangioendothelioma Epithelioid	Associate	19961253
Hemangiopericytoma	Associate	15309019
Hemoglobinuria Paroxysmal	Associate	23281097
Hemorrhage	Associate	12507894
Hepatitis B	Associate	18928518, 26589601
Hepatitis B	Inhibit	37585411
Hereditary Breast and Ovarian Cancer Syndrome	Associate	27461629
Hereditary Central Nervous System Demyelinating Diseases	Associate	35212467
Hereditary Sensory and Motor Neuropathy	Associate	26991897
HIV Infections	Inhibit	21551363, 35969625
Holt Oram syndrome	Associate	36615293
Hydatidiform Mole	Associate	11092533
Hydatidiform Mole Invasive	Associate	11092533
Hypertension	Associate	20813891, 24138103
Hypoxia	Associate	15790403
Hypoxia	Inhibit	20813891, 30681298, 32012940
Ileitis	Associate	21804528
Infections	Associate	36285332
Inflammation	Associate	1717072, 32581077
Inflammation	Inhibit	29232715
Internal Hernia	Associate	36639698
Intestinal Diseases	Associate	14736279, 35448971
Intracranial Embolism	Inhibit	25282623
Keratoconus	Associate	31467338
Kidney Neoplasms	Associate	20459800, 28809959
Late Onset Disorders	Associate	19019493
Leiomyosarcoma	Associate	25991737
Leishmaniasis Visceral	Associate	35969625
Leukemia	Associate	10782151, 11175493, 16415515, 18271020, 2070084, 21467711, 22031455, 2415187, 24845957, 2668292, 27018867, 27634205, 2787681, 2957819, 3048438 View all (8 more)
Leukemia B Cell	Associate	12447961, 2070084, 7895527
Leukemia Biphenotypic Acute	Inhibit	15098014
Leukemia Biphenotypic Acute	Associate	18241334, 20051780, 24161606, 32980888, 33988307
Leukemia Hairy Cell	Associate	10414592, 23347903
Leukemia Lymphocytic Chronic B Cell	Associate	12447961, 9659258
Leukemia Lymphoma Adult T Cell	Associate	10435360, 10782151
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	2415187, 6941821, 6973348
Leukemia Myeloid Acute	Associate	28134942, 29171939, 2936404, 3159446, 9002966
Leukemia Myelomonocytic Chronic	Associate	3864499
Leukemia Plasma Cell	Associate	2931452
Leukemia Promyelocytic Acute	Associate	22535601, 9734655
Lung Diseases	Associate	1660144
Lung Neoplasms	Inhibit	12122282
Lupus Erythematosus Systemic	Associate	37585411
Lupus Nephritis	Associate	37583695
Lymphatic Metastasis	Associate	17335564, 21538124, 29653092, 32592351
Lymphatic Metastasis	Stimulate	29306324
Lymphatic Metastasis	Inhibit	31054987
Lymphoma	Associate	10782151, 12171495, 16494623, 17999414, 19120365, 20490333, 20533006, 22041376, 22918164, 28885361, 2968607, 32497402, 35895386, 6973348
Lymphoma	Stimulate	23411938
Lymphoma AIDS Related	Stimulate	23722608
Lymphoma AIDS Related	Associate	39324141
Lymphoma B Cell	Associate	12171495, 15905193, 19298719, 19880780, 25619965, 2933960, 34608246, 35456397, 8111048
Lymphoma B Cell	Stimulate	24002786, 25550870
Lymphoma B Cell Marginal Zone	Associate	22110251
Lymphoma Follicular	Associate	14681948, 15504248, 17138820, 17296585, 17387393, 17510532, 17513519, 19382196, 20340097, 21240256, 21375524, 21502424, 21956856, 21988858, 24659431 View all (7 more)
Lymphoma Follicular	Stimulate	6973348
Lymphoma Large B Cell Diffuse	Associate	11895757, 11986240, 12393466, 12460461, 14556665, 15492762, 15504248, 16494623, 17149956, 17513519, 18165800, 18615101, 19706817, 22437443, 24133582 View all (13 more)
Lymphoma Mantle Cell	Associate	16434369, 19826251, 20490333, 31326974, 9659258
Lymphoma Non Hodgkin	Associate	23795960, 25991737, 26084540, 2931028, 32545905, 34528537
Lymphoma T Cell	Associate	11781247, 16400325, 16572417, 18292286, 19120365, 19650143, 21499231, 25619965, 27105079, 31556696, 36466894, 6973348
Lymphoma T Cell	Stimulate	17339160
Lymphoma T Cell Cutaneous	Associate	22918164
Lymphoma T Cell Peripheral	Associate	16400325
Lymphoproliferative Disorders	Associate	16424179
Malignant mesenchymal tumor	Associate	2541615
Melanoma	Associate	15205682, 17207277, 26945789, 29555579
Melanoma Cutaneous Malignant	Associate	30251808
Meningioma	Associate	31372897
Mental Disorders	Associate	30148170
Mesothelioma Malignant	Associate	16740034, 25608772, 37147569
Microphthalmos	Associate	10951272
Migraine without Aura	Associate	19801787
Mitral Valve Insufficiency	Associate	30581499
Mouth Diseases	Associate	16500320
Mucopolysaccharidoses	Associate	32366041
Multiple Myeloma	Associate	15578069, 1830500, 2137556, 2451550, 2931452, 35840578
Multiple Sclerosis	Associate	9883968
Muscle Weakness	Associate	39232784
Muscular Dystrophy Duchenne	Associate	24222227
Mycosis Fungoides	Associate	22918164
Myelodysplastic Syndromes	Associate	12393641, 12949884, 15668954, 23281097
Myoepithelioma	Associate	15166269
Myositis Inclusion Body	Associate	16405511
Necrosis	Associate	28809959
Neoplasm Invasiveness	Stimulate	32592351
Neoplasm Metastasis	Stimulate	15509525, 19961253
Neoplasm Metastasis	Associate	21538124, 21599811, 25921112, 27340107, 29653092, 32592351
Neoplasm Metastasis	Inhibit	31054987
Neoplasms	Associate	12483012, 1309670, 1469102, 14749127, 15154010, 15205682, 16150948, 1660144, 16740034, 16804962, 16948517, 17057651, 17143263, 17607378, 18827820 View all (74 more)
Neoplasms	Inhibit	16940054, 32317704, 37585411
Neoplasms	Stimulate	17207277, 17970075, 31662560
Neoplasms Fibroepithelial	Associate	15677540
Neoplasms Squamous Cell	Associate	10782151
Neoplastic Syndromes Hereditary	Associate	16405511
Nephrosis Lipoid	Associate	26536600, 32860376
Nerve Degeneration	Inhibit	36858574
Nervous System Diseases	Associate	33144514
Neuralgia	Stimulate	21039743
Neurodegenerative Diseases	Associate	33383341
Neuroendocrine Tumors	Associate	1660144, 19806647
Obesity	Stimulate	32012940, 33638612
Odontogenic Cysts	Associate	30678440
Osteoarthritis	Associate	26355501
Osteosarcoma	Associate	2541615, 36615293
Ovarian Neoplasms	Associate	33608777, 36219681
Overweight	Inhibit	32012940
Pain	Associate	27957625, 38141597
Pancreatic Neoplasms	Associate	24354864, 30416314, 40303408
Pelvic Inflammatory Disease	Associate	16948517
Periodontitis	Associate	27531006
Phyllodes Tumor	Associate	15677540, 25921112, 33342805, 37933030
Plaque Amyloid	Associate	19019493, 19326964
Plaque Atherosclerotic	Associate	36649888
Plasmablastic Lymphoma	Associate	15578069
Polydactyly	Associate	23771067
Polyneuropathies	Associate	35212467
Poroma	Associate	26562027
Pre Eclampsia	Associate	27862669
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	10210325, 18928518, 19562339, 24845957, 27028865, 35796438
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	10782151, 10891460, 12791662, 16123216, 16184615, 18271020, 1859892, 18636158, 18928518, 19144982, 19657114, 19801787, 20051780, 27018867, 27598971 View all (11 more)
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	12548613, 2946333
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10655992, 10889907, 12087466, 2953847, 31115909, 6973348, 6980230, 9753057
Prehypertension	Inhibit	19671939
Progressive Transformation of Germinal Centers	Associate	19656156, 19893048, 25400800
Prostatic Neoplasms	Associate	15083188, 15509525, 17335564, 18076941, 20021671, 20935156, 21538124, 29704385, 34019593
Prostatitis	Associate	17335564, 29704385
Proteinuria	Associate	20864690
Pulmonary Disease Chronic Obstructive	Inhibit	20813891
Pulmonary Disease Chronic Obstructive	Associate	20813891
Pyruvate Carboxylase Deficiency Disease	Associate	14749127
Recurrence	Associate	15354218
Renal Insufficiency Chronic	Associate	29561187
Respiratory Distress Syndrome	Associate	36685531
Sarcoma	Associate	23356903, 37147950
Sarcoma Alveolar Soft Part	Associate	24427344
Sarcoma Clear Cell	Associate	1699423
Sarcoma Endometrial Stromal	Associate	15309019, 15677540, 22982899, 23959089, 25991737
Sarcoma Endometrial Stromal	Stimulate	18376386
Sarcoma Ewing	Associate	2541615
Sebaceous Gland Neoplasms	Associate	16948517
Seminoma	Associate	23411938
Sensation Disorders	Associate	26991897
Sertoli Cell Only Syndrome	Stimulate	16494623, 27773559
Sezary Syndrome	Associate	22918164
Short Limb Skeletal Dysplasia with Severe Combined Immunodeficiency	Associate	1596568
Small Cell Lung Carcinoma	Associate	1469102, 1660144, 7962523
Solitary Fibrous Tumors	Associate	15309019
Spinal Muscular Atrophies of Childhood	Associate	35484883
Spinocerebellar Ataxias	Associate	32545905
Squamous Cell Carcinoma of Head and Neck	Associate	39897030
ST Elevation Myocardial Infarction	Stimulate	36649888
Stomach Neoplasms	Associate	14676441, 15354218, 35448971, 35815076, 37277751
Tarlov Cysts	Stimulate	32592351
Tertiary Lymphoid Structures	Associate	17970075
Thyroid Carcinoma Anaplastic	Associate	27796151
Trophoblastic Neoplasms	Associate	11092533
Tuberous Sclerosis	Associate	24832166
Urethral Neoplasms	Associate	16400326, 32592351, 34528537
Urinary Bladder Neoplasms	Associate	32592351, 34528537
Uterine Diseases	Associate	25282623, 26722510
Vaginal Diseases	Associate	28747229
Vascular Remodeling	Associate	20813891
Vascular System Injuries	Inhibit	25282623
Vasculitis	Stimulate	27102815
Wasting Syndrome	Associate	39232784
Weight Loss	Inhibit	33638612
Weight Loss	Associate	33638612

MME (membrane metalloendopeptidase)