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	166785
Gene name	Metabolism of cobalamin associated A
Gene symbol	MMAA
Synonyms (NCBI Gene)	cblA
Chromosome	4
Chromosome location	4q31.21
Summary	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutas

Show/Hide all (58)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893846	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs104893849	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893851	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs140356252	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs150376474	G>A	Pathogenic	Coding sequence variant, missense variant
rs398124552	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs571038432	C>T	Pathogenic	Stop gained, coding sequence variant
rs751717131	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs754545360	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs754894257	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs754973022	->G	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs756221585	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs757548934	C>T	Pathogenic	Coding sequence variant, stop gained
rs758345818	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs765799472	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs774958165	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779939886	G>A,T	Pathogenic-likely-pathogenic	Splice donor variant
rs780082584	TGTTTAGCAGAGGCC>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs796051992	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs796051993	CTGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309725	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs864309726	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864309727	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs864309728	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309729	G>C	Pathogenic	Coding sequence variant, missense variant
rs864309730	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309731	G>A	Pathogenic	Coding sequence variant, missense variant
rs869320656	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs869320657	T>G	Pathogenic	Coding sequence variant, missense variant
rs920825350	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs999844958	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1029096863	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131692023	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1314623572	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1553957856	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, initiator codon variant
rs1553957862	AC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553957883	C>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1553957901	C>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553957906	TT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553957907	AAAGGGC>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553957931	TAAA>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553957938	G>A	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1553958126	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553958127	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553958143	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1553958158	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553958159	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1553958392	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553958395	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553958417	C>A	Pathogenic	Coding sequence variant, missense variant
rs1553958720	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553959017	G>A	Pathogenic	Splice acceptor variant
rs1553959024	C>A	Pathogenic	Coding sequence variant, missense variant
rs1553959025	A>T	Pathogenic	Coding sequence variant, missense variant
rs1553959113	A>T	Pathogenic	Splice acceptor variant
rs1553959152	GG>TT	Pathogenic	Coding sequence variant, missense variant
rs1560795828	CT>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1560802980	C>T	Likely-pathogenic	Stop gained, coding sequence variant

217

Show/Hide all (217)

miRTarBase ID	miRNA	Experiments
MIRT1152712	hsa-miR-125a-3p	CLIP-seq
MIRT1152713	hsa-miR-1276	CLIP-seq
MIRT1152714	hsa-miR-1297	CLIP-seq
MIRT1152715	hsa-miR-1302	CLIP-seq
MIRT1152716	hsa-miR-1305	CLIP-seq
MIRT1152717	hsa-miR-139-5p	CLIP-seq
MIRT1152718	hsa-miR-205	CLIP-seq
MIRT1152719	hsa-miR-2053	CLIP-seq
MIRT1152720	hsa-miR-219-5p	CLIP-seq
MIRT1152721	hsa-miR-25	CLIP-seq
MIRT1152722	hsa-miR-26a	CLIP-seq
MIRT1152723	hsa-miR-26b	CLIP-seq
MIRT1152724	hsa-miR-300	CLIP-seq
MIRT1152725	hsa-miR-3117-5p	CLIP-seq
MIRT1152726	hsa-miR-3130-3p	CLIP-seq
MIRT1152727	hsa-miR-3162-5p	CLIP-seq
MIRT1152728	hsa-miR-3163	CLIP-seq
MIRT1152729	hsa-miR-32	CLIP-seq
MIRT1152730	hsa-miR-337-3p	CLIP-seq
MIRT1152731	hsa-miR-363	CLIP-seq
MIRT1152732	hsa-miR-3647-3p	CLIP-seq
MIRT1152733	hsa-miR-367	CLIP-seq
MIRT1152734	hsa-miR-3685	CLIP-seq
MIRT1152735	hsa-miR-381	CLIP-seq
MIRT1152736	hsa-miR-384	CLIP-seq
MIRT1152737	hsa-miR-3920	CLIP-seq
MIRT1152738	hsa-miR-3934	CLIP-seq
MIRT1152739	hsa-miR-4270	CLIP-seq
MIRT1152740	hsa-miR-4298	CLIP-seq
MIRT1152741	hsa-miR-4311	CLIP-seq
MIRT1152742	hsa-miR-4441	CLIP-seq
MIRT1152743	hsa-miR-4445	CLIP-seq
MIRT1152744	hsa-miR-4465	CLIP-seq
MIRT1152745	hsa-miR-4659a-5p	CLIP-seq
MIRT1152746	hsa-miR-4659b-5p	CLIP-seq
MIRT1152747	hsa-miR-4670-3p	CLIP-seq
MIRT1152748	hsa-miR-4762-3p	CLIP-seq
MIRT1152749	hsa-miR-4776-3p	CLIP-seq
MIRT1152750	hsa-miR-4782-3p	CLIP-seq
MIRT1152751	hsa-miR-4793-3p	CLIP-seq
MIRT1152752	hsa-miR-498	CLIP-seq
MIRT1152753	hsa-miR-508-3p	CLIP-seq
MIRT1152754	hsa-miR-513a-5p	CLIP-seq
MIRT1152755	hsa-miR-579	CLIP-seq
MIRT1152756	hsa-miR-583	CLIP-seq
MIRT1152757	hsa-miR-584	CLIP-seq
MIRT1152758	hsa-miR-633	CLIP-seq
MIRT1152759	hsa-miR-764	CLIP-seq
MIRT1152760	hsa-miR-92a	CLIP-seq
MIRT1152761	hsa-miR-92b	CLIP-seq
MIRT1551333	hsa-miR-3907	CLIP-seq
MIRT1551334	hsa-miR-4642	CLIP-seq
MIRT1551335	hsa-miR-4686	CLIP-seq
MIRT1551336	hsa-miR-4700-3p	CLIP-seq
MIRT1551337	hsa-miR-4720-5p	CLIP-seq
MIRT1551338	hsa-miR-4799-3p	CLIP-seq
MIRT2043643	hsa-miR-1252	CLIP-seq
MIRT2043644	hsa-miR-1284	CLIP-seq
MIRT1152716	hsa-miR-1305	CLIP-seq
MIRT2043645	hsa-miR-2110	CLIP-seq
MIRT2043646	hsa-miR-2116	CLIP-seq
MIRT1152724	hsa-miR-300	CLIP-seq
MIRT2043647	hsa-miR-3074-3p	CLIP-seq
MIRT2043648	hsa-miR-3150a-3p	CLIP-seq
MIRT2043649	hsa-miR-3155	CLIP-seq
MIRT2043650	hsa-miR-3155b	CLIP-seq
MIRT2043651	hsa-miR-3664-3p	CLIP-seq
MIRT1152735	hsa-miR-381	CLIP-seq
MIRT2043652	hsa-miR-3942-3p	CLIP-seq
MIRT2043653	hsa-miR-4261	CLIP-seq
MIRT2043654	hsa-miR-4450	CLIP-seq
MIRT2043655	hsa-miR-4496	CLIP-seq
MIRT2043656	hsa-miR-4666-3p	CLIP-seq
MIRT2043657	hsa-miR-4677-5p	CLIP-seq
MIRT2043658	hsa-miR-4755-3p	CLIP-seq
MIRT2043659	hsa-miR-4803	CLIP-seq
MIRT2043660	hsa-miR-484	CLIP-seq
MIRT1152757	hsa-miR-584	CLIP-seq
MIRT2043661	hsa-miR-590-3p	CLIP-seq
MIRT2043662	hsa-miR-802	CLIP-seq
MIRT2273072	hsa-miR-1208	CLIP-seq
MIRT1152716	hsa-miR-1305	CLIP-seq
MIRT2273073	hsa-miR-130a	CLIP-seq
MIRT2273074	hsa-miR-130b	CLIP-seq
MIRT1152717	hsa-miR-139-5p	CLIP-seq
MIRT2273075	hsa-miR-140-5p	CLIP-seq
MIRT2273076	hsa-miR-183	CLIP-seq
MIRT2273077	hsa-miR-200b	CLIP-seq
MIRT2273078	hsa-miR-200c	CLIP-seq
MIRT2043645	hsa-miR-2110	CLIP-seq
MIRT2273079	hsa-miR-2113	CLIP-seq
MIRT2273080	hsa-miR-2681	CLIP-seq
MIRT2273081	hsa-miR-298	CLIP-seq
MIRT2273082	hsa-miR-301a	CLIP-seq
MIRT2273083	hsa-miR-301b	CLIP-seq
MIRT1152725	hsa-miR-3117-5p	CLIP-seq
MIRT2273084	hsa-miR-3140-3p	CLIP-seq
MIRT2273085	hsa-miR-3140-5p	CLIP-seq
MIRT2273086	hsa-miR-3145-3p	CLIP-seq
MIRT2043648	hsa-miR-3150a-3p	CLIP-seq
MIRT2273087	hsa-miR-340	CLIP-seq
MIRT2273088	hsa-miR-34b	CLIP-seq
MIRT2273089	hsa-miR-3646	CLIP-seq
MIRT2273090	hsa-miR-3666	CLIP-seq
MIRT2273091	hsa-miR-3684	CLIP-seq
MIRT2273092	hsa-miR-3691-3p	CLIP-seq
MIRT2273093	hsa-miR-409-5p	CLIP-seq
MIRT2273094	hsa-miR-421	CLIP-seq
MIRT2273095	hsa-miR-4279	CLIP-seq
MIRT2273096	hsa-miR-429	CLIP-seq
MIRT2273097	hsa-miR-4295	CLIP-seq
MIRT2273098	hsa-miR-4305	CLIP-seq
MIRT2043654	hsa-miR-4450	CLIP-seq
MIRT2273099	hsa-miR-454	CLIP-seq
MIRT2273100	hsa-miR-4633-5p	CLIP-seq
MIRT1152745	hsa-miR-4659a-5p	CLIP-seq
MIRT1152746	hsa-miR-4659b-5p	CLIP-seq
MIRT2273101	hsa-miR-4680-3p	CLIP-seq
MIRT2273102	hsa-miR-4691-5p	CLIP-seq
MIRT2273103	hsa-miR-4696	CLIP-seq
MIRT2273104	hsa-miR-4712-5p	CLIP-seq
MIRT2273105	hsa-miR-4773	CLIP-seq
MIRT1152749	hsa-miR-4776-3p	CLIP-seq
MIRT2043659	hsa-miR-4803	CLIP-seq
MIRT2273106	hsa-miR-488	CLIP-seq
MIRT1152752	hsa-miR-498	CLIP-seq
MIRT2273107	hsa-miR-532-5p	CLIP-seq
MIRT2273108	hsa-miR-544	CLIP-seq
MIRT2273109	hsa-miR-767-3p	CLIP-seq
MIRT2273110	hsa-miR-770-5p	CLIP-seq
MIRT1152717	hsa-miR-139-5p	CLIP-seq
MIRT2431153	hsa-miR-3065-3p	CLIP-seq
MIRT1152730	hsa-miR-337-3p	CLIP-seq
MIRT1152734	hsa-miR-3685	CLIP-seq
MIRT1152736	hsa-miR-384	CLIP-seq
MIRT2454222	hsa-miR-1245	CLIP-seq
MIRT2043645	hsa-miR-2110	CLIP-seq
MIRT2454223	hsa-miR-29a	CLIP-seq
MIRT2454224	hsa-miR-29b	CLIP-seq
MIRT2454225	hsa-miR-29c	CLIP-seq
MIRT2043648	hsa-miR-3150a-3p	CLIP-seq
MIRT2454226	hsa-miR-3160-3p	CLIP-seq
MIRT2454227	hsa-miR-335	CLIP-seq
MIRT2454228	hsa-miR-3606	CLIP-seq
MIRT2454229	hsa-miR-3663-3p	CLIP-seq
MIRT2454230	hsa-miR-433	CLIP-seq
MIRT2043654	hsa-miR-4450	CLIP-seq
MIRT2454231	hsa-miR-4712-3p	CLIP-seq
MIRT2454232	hsa-miR-548a-5p	CLIP-seq
MIRT2454233	hsa-miR-548ab	CLIP-seq
MIRT2454234	hsa-miR-548ak	CLIP-seq
MIRT2454235	hsa-miR-548b-5p	CLIP-seq
MIRT2454236	hsa-miR-548c-5p	CLIP-seq
MIRT2454237	hsa-miR-548d-5p	CLIP-seq
MIRT2454238	hsa-miR-548h	CLIP-seq
MIRT2454239	hsa-miR-548i	CLIP-seq
MIRT2454240	hsa-miR-548j	CLIP-seq
MIRT2454241	hsa-miR-548k	CLIP-seq
MIRT2454242	hsa-miR-548l	CLIP-seq
MIRT2454243	hsa-miR-548w	CLIP-seq
MIRT2454244	hsa-miR-548y	CLIP-seq
MIRT2454245	hsa-miR-559	CLIP-seq
MIRT2454246	hsa-miR-767-5p	CLIP-seq
MIRT2454247	hsa-miR-921	CLIP-seq
MIRT2454223	hsa-miR-29a	CLIP-seq
MIRT2454224	hsa-miR-29b	CLIP-seq
MIRT2454225	hsa-miR-29c	CLIP-seq
MIRT2454227	hsa-miR-335	CLIP-seq
MIRT2454229	hsa-miR-3663-3p	CLIP-seq
MIRT2454246	hsa-miR-767-5p	CLIP-seq
MIRT2571774	hsa-miR-1207-5p	CLIP-seq
MIRT2571775	hsa-miR-1227	CLIP-seq
MIRT2571776	hsa-miR-1266	CLIP-seq
MIRT2273076	hsa-miR-183	CLIP-seq
MIRT2043645	hsa-miR-2110	CLIP-seq
MIRT2571777	hsa-miR-3064-3p	CLIP-seq
MIRT1152725	hsa-miR-3117-5p	CLIP-seq
MIRT2273085	hsa-miR-3140-5p	CLIP-seq
MIRT2043648	hsa-miR-3150a-3p	CLIP-seq
MIRT1152728	hsa-miR-3163	CLIP-seq
MIRT2273087	hsa-miR-340	CLIP-seq
MIRT2571778	hsa-miR-3688-5p	CLIP-seq
MIRT2571779	hsa-miR-380	CLIP-seq
MIRT2571780	hsa-miR-3938	CLIP-seq
MIRT1152739	hsa-miR-4270	CLIP-seq
MIRT2571781	hsa-miR-4282	CLIP-seq
MIRT1152742	hsa-miR-4441	CLIP-seq
MIRT2043654	hsa-miR-4450	CLIP-seq
MIRT2571782	hsa-miR-4518	CLIP-seq
MIRT2273101	hsa-miR-4680-3p	CLIP-seq
MIRT2571783	hsa-miR-4722-5p	CLIP-seq
MIRT2571784	hsa-miR-4736	CLIP-seq
MIRT2571785	hsa-miR-4763-3p	CLIP-seq
MIRT2571786	hsa-miR-4768-3p	CLIP-seq
MIRT2043659	hsa-miR-4803	CLIP-seq
MIRT2571787	hsa-miR-510	CLIP-seq
MIRT2571788	hsa-miR-512-5p	CLIP-seq
MIRT2571789	hsa-miR-513a-3p	CLIP-seq
MIRT2571790	hsa-miR-550b	CLIP-seq
MIRT2571791	hsa-miR-555	CLIP-seq
MIRT2571792	hsa-miR-670	CLIP-seq
MIRT2571774	hsa-miR-1207-5p	CLIP-seq
MIRT2571775	hsa-miR-1227	CLIP-seq
MIRT2685090	hsa-miR-194	CLIP-seq
MIRT2043645	hsa-miR-2110	CLIP-seq
MIRT2571777	hsa-miR-3064-3p	CLIP-seq
MIRT2043648	hsa-miR-3150a-3p	CLIP-seq
MIRT2685091	hsa-miR-339-5p	CLIP-seq
MIRT2571778	hsa-miR-3688-5p	CLIP-seq
MIRT2571780	hsa-miR-3938	CLIP-seq
MIRT2043654	hsa-miR-4450	CLIP-seq
MIRT2571783	hsa-miR-4722-5p	CLIP-seq
MIRT2571784	hsa-miR-4736	CLIP-seq
MIRT2571785	hsa-miR-4763-3p	CLIP-seq
MIRT2571786	hsa-miR-4768-3p	CLIP-seq
MIRT2571790	hsa-miR-550b	CLIP-seq
MIRT2571792	hsa-miR-670	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	20876572, 21138732, 28943303
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	28497574
GO:0005515	Function	Protein binding	IPI	20876572, 21138732, 28497574, 28943303
GO:0005525	Function	GTP binding	IDA	20876572, 28497574
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	28943303
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	28943303
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0009235	Process	Cobalamin metabolic process	IDA	31056463
GO:0009235	Process	Cobalamin metabolic process	TAS	28497574
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IDA	20876572
GO:0042802	Function	Identical protein binding	IPI	20876572
GO:0042803	Function	Protein homodimerization activity	IDA	20876572
GO:0140104	Function	Molecular carrier activity	TAS

MIM	HGNC	e!Ensembl
607481	18871	ENSG00000151611

Q8IVH4

Protein name

Methylmalonic aciduria type A protein, mitochondrial (EC 3.6.-.-)

Protein function

GTPase, binds and hydrolyzes GTP (PubMed:20876572, PubMed:21138732, PubMed:28497574, PubMed:28943303). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylc

PDB

2WWW , 8GJU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03308	MeaB	101 → 384		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highest expression is observed in liver and skeletal muscle.

Sequence

MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDG
LKRKLCVQTTLKDHTEGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQ
VLLQKVLLYHREQEQSNKGKPLAFRVGLSGPPGAGKSTFIEYFGKMLTERGHKLSVLAVD
PSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTNEAILLCEGAGYDIIL
IETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPAR
RIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRR
KQQKVWMWNLIQESVLEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD

Sequence length

418

Interactions

View interactions

	KEGG		Reactome
	Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMAA causes methylmalonic aciduria type cblA Defective MUT causes methylmalonic aciduria mut type Propionyl-CoA catabolism

582

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Methylmalonic acidemia	Likely pathogenic; Pathogenic	rs200577967, rs104893846, rs104893851, rs796051992, rs796051993, rs571038432, rs765799472, rs140356252, rs864309730, rs1728076436, rs1029096863, rs757548934, rs754973022, rs1553957931	RCV003388009 RCV003155012 RCV000587855 RCV001420837 RCV000780425 RCV001193917 RCV000590153 RCV001804942 RCV002509299 RCV004579650 RCV001193915 RCV000586897 RCV001193916 RCV003155263
Methylmalonic aciduria of the cblA complementation type	Likely pathogenic; Pathogenic	rs1553957883	RCV001250250
Methylmalonic aciduria, cblA type	Pathogenic; Likely pathogenic	rs398124552, rs200577967, rs1489525542, rs941689476, rs2126619930, rs760875006, rs2126617138, rs2126627182, rs1340736923, rs2126622813, rs2546339507, rs2546342963, rs2546337480, rs2546339598, rs2546339447 View all (103 more)	RCV000509023 RCV001386117 RCV001928572 RCV001974286 RCV002014753 RCV001942196 RCV001900507 RCV001958644 RCV002041912 RCV001931901 RCV002306526 RCV002306793 RCV002309695 RCV002309798 RCV002310030 RCV002308001 RCV002308323 RCV002310544 RCV002308417 RCV000003307 RCV000003308 RCV000003309 RCV000003310 RCV002651851 RCV002635315 RCV000671866 RCV000203312 RCV000203343 RCV002694797 RCV002705705 RCV002780566 RCV002833163 RCV002815258 RCV002853415 RCV002903527 RCV002914821 RCV000203329 RCV000203357 RCV000203404 RCV000203366 RCV000203403 RCV000203380 RCV000203317 RCV000203334 RCV000203378 RCV000203316 RCV000203388 RCV000210831 RCV000210840 RCV003143984 RCV003470126 RCV003470128 RCV003470129 RCV003470130 RCV003470131 RCV003470132 RCV003470135 RCV003470136 RCV003461859 RCV003476510 RCV003461860 RCV003470137 RCV003470138 RCV003470139 RCV003470140 RCV003500866 RCV003501696 RCV003500324 RCV003607638 RCV003608039 RCV003608258 RCV003608371 RCV003608367 RCV003607064 RCV003989428 RCV004574882 RCV004574883 RCV005023583 RCV000509025 RCV000509034 RCV000509042 RCV000509026 RCV000509035 RCV000509018 RCV000509030 RCV000509037 RCV000509020 RCV000509038 RCV000509021 RCV000509028 RCV000509039 RCV000509022 RCV000509031 RCV000509040 RCV000509032 RCV000545383 RCV000552652 RCV001240486 RCV000666843 RCV000667589 RCV000666170 RCV000672172 RCV000674400 RCV000664553 RCV000669744 RCV000673653 RCV000670340 RCV000669805 RCV000672980 RCV000664890 RCV000670314 RCV000669403 RCV000671130 RCV000699106 RCV000690978 RCV001053481 RCV001052056 RCV001169965 RCV001234942 RCV001235874 RCV001263970
MMAA-related disorder	Likely pathogenic; Pathogenic	rs2126622813, rs104893851, rs796051992, rs796051993	RCV003401788 RCV003421899 RCV003401020 RCV004752785
See cases	Likely pathogenic; Pathogenic	rs104893851	RCV003128386

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cataract	Conflicting classifications of pathogenicity	rs1328584680	RCV000627007
Clear cell carcinoma of kidney	Uncertain significance	rs138854691	RCV005896799
Lung cancer	Uncertain significance	rs138854691	RCV005896800
Methylmalonic aciduria, cblB type	not provided	rs796064514	RCV000190396
Microcephaly	Conflicting classifications of pathogenicity	rs1328584680	RCV000627007
Severe global developmental delay	Conflicting classifications of pathogenicity	rs1328584680	RCV000627007

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidemia isovaleric	Stimulate	24059531
Colonic Neoplasms	Associate	33028275
Dimauro disease	Associate	32754920
Glutamate formiminotransferase deficiency	Associate	24095221
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	33453710
Intellectual Disability	Associate	33453710
Kidney Failure Chronic	Inhibit	32754920
Metabolic Diseases	Associate	28497574, 32754920
Metabolism Inborn Errors	Associate	10882753
Methylmalonic acidemia	Associate	12438653, 17728257, 20876572, 22614770, 26420839, 28497574, 28536607, 29996803, 31056463, 31793236, 33453710, 37468522, 39523381
Methylmalonic acidemia	Inhibit	29996803, 32754920
Methylmalonic acidemia with homocystinuria	Associate	28536607
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	20876572, 24095221
Methylmalonic aciduria cblA type	Associate	10882753, 32754920
Propionic Acidemia	Stimulate	24059531
Vitamin B 12 Deficiency	Associate	12438653

MMAA (metabolism of cobalamin associated A)