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

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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic aciduria of the cblA complementation type	Likely pathogenic; Pathogenic	rs1553957883	RCV001250250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (116 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MMAA-related disorder	Likely pathogenic; Pathogenic	rs2126622813, rs104893851, rs796051992, rs796051993	RCV003401788 RCV003421899 RCV003401020 RCV004752785	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cataract	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALOBLASTIC ANEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA CBLA TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria, cblB type	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe global developmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B DEFICIENCY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin B12 deficiency	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33028275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11257549, 7532166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dimauro disease	Dimauro disease	Pubtator	32754920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	17728257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33453710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32754920	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28497574, 32754920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	12438653, 17728257, 20876572, 22614770, 26420839, 28497574, 28536607, 29996803, 31056463, 31793236, 33453710, 37468522, 39523381	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	29996803, 32754920	Inhibit	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	28536607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	20876572, 24095221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic aciduria cblA type	Methylmalonic acidemia	Pubtator	10882753, 32754920	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria cblA type	Methylmalonic aciduria	UNIPROT_DG	12438653, 15308131, 15523652, 17957493, 20876572, 23026888, 28497574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria cblA type	Methylmalonic aciduria	GENOMICS_ENGLAND_DG	12438653, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria cblA type	Methylmalonic aciduria	CLINVAR_DG	15308131, 15523652, 15781192, 16247646, 17957493, 21545677, 23026888, 25525159, 26270765, 27591164, 28497574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria cblA type	Methylmalonic aciduria	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria cblA type	Methylmalonic aciduria	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	12438653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B12-responsive methylmalonic acidemia type cblA	Vitamin B12-Responsive Methylmalonic Acidemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MMAA (metabolism of cobalamin associated A)