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	27249
Gene name	Metabolism of cobalamin associated D
Gene symbol	MMADHC
Synonyms (NCBI Gene)	C2orf25CL25022HMADMACDMAHCDcblD
Chromosome	2
Chromosome location	2q23.2
Summary	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinur

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118204044	A>G	Pathogenic	Coding sequence variant, missense variant
rs118204045	G>T	Pathogenic	Coding sequence variant, missense variant
rs118204046	T>C	Pathogenic	Coding sequence variant, missense variant
rs118204047	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs118204048	G>A	Pathogenic	Stop gained, coding sequence variant
rs141093638	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, stop gained
rs147370143	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397509361	TAAAGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs397509362	->TGATAAAGGTTCTGCTAG	Pathogenic	Coding sequence variant, inframe insertion
rs397509363	->T	Pathogenic	Coding sequence variant, stop gained
rs397509364	CACT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs864309740	->C	Pathogenic	Frameshift variant, coding sequence variant
rs864309741	->C	Pathogenic	Frameshift variant, coding sequence variant
rs864309742	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs864309743	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886039425	G>A	Pathogenic	Stop gained, coding sequence variant
rs1385597423	C>T	Likely-pathogenic	Splice donor variant
rs1553453945	AAAGGGTGGAAATGACAGTCATCATTTTAAGACATTGGTTCACTATTACTTAAATAATGACCATAAAATTAAATTATTAGCAATTGAAAGAAT>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1553454436	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1573878695	AA>-	Pathogenic	Coding sequence variant, frameshift variant

261

Show/Hide all (261)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044302	hsa-miR-106b-5p	CLASH	23622248
MIRT707492	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT695168	hsa-miR-1272	HITS-CLIP	21572407
MIRT695167	hsa-miR-1322	HITS-CLIP	21572407
MIRT530723	hsa-miR-95-5p	HITS-CLIP	21572407
MIRT504610	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT504608	hsa-miR-448	HITS-CLIP	21572407
MIRT504607	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT551522	hsa-miR-3662	HITS-CLIP	21572407
MIRT504611	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551521	hsa-miR-4495	HITS-CLIP	21572407
MIRT551520	hsa-miR-379-3p	HITS-CLIP	21572407
MIRT551519	hsa-miR-411-3p	HITS-CLIP	21572407
MIRT551518	hsa-miR-380-3p	HITS-CLIP	21572407
MIRT551517	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551516	hsa-miR-567	HITS-CLIP	21572407
MIRT551515	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551514	hsa-miR-4711-3p	HITS-CLIP	21572407
MIRT551513	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT707491	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT504609	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551512	hsa-miR-297	HITS-CLIP	21572407
MIRT551511	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT504611	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT695168	hsa-miR-1272	HITS-CLIP	21572407
MIRT695167	hsa-miR-1322	HITS-CLIP	21572407
MIRT504609	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504608	hsa-miR-448	HITS-CLIP	21572407
MIRT504607	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504607	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT695168	hsa-miR-1272	HITS-CLIP	23313552
MIRT695167	hsa-miR-1322	HITS-CLIP	23313552
MIRT504608	hsa-miR-448	HITS-CLIP	23313552
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT504607	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504610	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT504608	hsa-miR-448	PAR-CLIP	21572407
MIRT551522	hsa-miR-3662	PAR-CLIP	21572407
MIRT551521	hsa-miR-4495	PAR-CLIP	21572407
MIRT551520	hsa-miR-379-3p	PAR-CLIP	21572407
MIRT551519	hsa-miR-411-3p	PAR-CLIP	21572407
MIRT551518	hsa-miR-380-3p	PAR-CLIP	21572407
MIRT551517	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551516	hsa-miR-567	PAR-CLIP	21572407
MIRT551515	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551514	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT551513	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504609	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551512	hsa-miR-297	PAR-CLIP	21572407
MIRT551511	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT530724	hsa-miR-577	PAR-CLIP	22012620
MIRT530723	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT530722	hsa-miR-633	PAR-CLIP	22012620
MIRT504610	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT504608	hsa-miR-448	PAR-CLIP	23446348
MIRT504607	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504611	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504610	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT504609	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504608	hsa-miR-448	PAR-CLIP	23446348
MIRT504607	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT707492	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT695168	hsa-miR-1272	HITS-CLIP	21572407
MIRT695167	hsa-miR-1322	HITS-CLIP	21572407
MIRT530723	hsa-miR-95-5p	HITS-CLIP	21572407
MIRT504610	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT504608	hsa-miR-448	HITS-CLIP	21572407
MIRT504607	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT551522	hsa-miR-3662	HITS-CLIP	21572407
MIRT504611	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551521	hsa-miR-4495	HITS-CLIP	21572407
MIRT551520	hsa-miR-379-3p	HITS-CLIP	21572407
MIRT551519	hsa-miR-411-3p	HITS-CLIP	21572407
MIRT551518	hsa-miR-380-3p	HITS-CLIP	21572407
MIRT551517	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551516	hsa-miR-567	HITS-CLIP	21572407
MIRT551515	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551514	hsa-miR-4711-3p	HITS-CLIP	21572407
MIRT551513	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT707491	hsa-miR-4666a-5p	HITS-CLIP	21572407
MIRT504609	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551512	hsa-miR-297	HITS-CLIP	21572407
MIRT551511	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT504611	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT695168	hsa-miR-1272	HITS-CLIP	21572407
MIRT695167	hsa-miR-1322	HITS-CLIP	21572407
MIRT504609	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504608	hsa-miR-448	HITS-CLIP	21572407
MIRT504607	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT504607	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT695168	hsa-miR-1272	HITS-CLIP	23313552
MIRT695167	hsa-miR-1322	HITS-CLIP	23313552
MIRT504608	hsa-miR-448	HITS-CLIP	23313552
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT620495	hsa-miR-8485	HITS-CLIP	23824327
MIRT351436	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT620494	hsa-miR-586	HITS-CLIP	23824327
MIRT504607	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504610	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT504608	hsa-miR-448	PAR-CLIP	21572407
MIRT551522	hsa-miR-3662	PAR-CLIP	21572407
MIRT551521	hsa-miR-4495	PAR-CLIP	21572407
MIRT551520	hsa-miR-379-3p	PAR-CLIP	21572407
MIRT551519	hsa-miR-411-3p	PAR-CLIP	21572407
MIRT551518	hsa-miR-380-3p	PAR-CLIP	21572407
MIRT551517	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551516	hsa-miR-567	PAR-CLIP	21572407
MIRT551515	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551514	hsa-miR-4711-3p	PAR-CLIP	21572407
MIRT551513	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504609	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551512	hsa-miR-297	PAR-CLIP	21572407
MIRT551511	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT530724	hsa-miR-577	PAR-CLIP	22012620
MIRT530723	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT530722	hsa-miR-633	PAR-CLIP	22012620
MIRT504610	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT504608	hsa-miR-448	PAR-CLIP	23446348
MIRT504607	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504611	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504610	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT504609	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504608	hsa-miR-448	PAR-CLIP	23446348
MIRT504607	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT1152885	hsa-miR-10a	CLIP-seq
MIRT1152886	hsa-miR-10b	CLIP-seq
MIRT1152887	hsa-miR-1276	CLIP-seq
MIRT1152888	hsa-miR-1284	CLIP-seq
MIRT1152889	hsa-miR-140-3p	CLIP-seq
MIRT1152890	hsa-miR-300	CLIP-seq
MIRT1152891	hsa-miR-3150b-3p	CLIP-seq
MIRT1152892	hsa-miR-323b-3p	CLIP-seq
MIRT1152893	hsa-miR-337-3p	CLIP-seq
MIRT1152894	hsa-miR-3660	CLIP-seq
MIRT1152895	hsa-miR-3691-5p	CLIP-seq
MIRT1152896	hsa-miR-381	CLIP-seq
MIRT1152897	hsa-miR-409-5p	CLIP-seq
MIRT1152898	hsa-miR-4311	CLIP-seq
MIRT1152899	hsa-miR-4491	CLIP-seq
MIRT1152900	hsa-miR-4526	CLIP-seq
MIRT1152901	hsa-miR-4645-3p	CLIP-seq
MIRT1152902	hsa-miR-4657	CLIP-seq
MIRT1152903	hsa-miR-4666-3p	CLIP-seq
MIRT1152904	hsa-miR-4752	CLIP-seq
MIRT1152905	hsa-miR-4764-5p	CLIP-seq
MIRT1152906	hsa-miR-4784	CLIP-seq
MIRT1152907	hsa-miR-487a	CLIP-seq
MIRT1152908	hsa-miR-539	CLIP-seq
MIRT1152909	hsa-miR-583	CLIP-seq
MIRT1152910	hsa-miR-95	CLIP-seq
MIRT1152885	hsa-miR-10a	CLIP-seq
MIRT1152886	hsa-miR-10b	CLIP-seq
MIRT1152907	hsa-miR-487a	CLIP-seq
MIRT1152901	hsa-miR-4645-3p	CLIP-seq
MIRT1152901	hsa-miR-4645-3p	CLIP-seq
MIRT1152901	hsa-miR-4645-3p	CLIP-seq
MIRT1152885	hsa-miR-10a	CLIP-seq
MIRT1152886	hsa-miR-10b	CLIP-seq
MIRT2571878	hsa-miR-1245b-5p	CLIP-seq
MIRT1152887	hsa-miR-1276	CLIP-seq
MIRT1152888	hsa-miR-1284	CLIP-seq
MIRT1152889	hsa-miR-140-3p	CLIP-seq
MIRT2571879	hsa-miR-190	CLIP-seq
MIRT2571880	hsa-miR-190b	CLIP-seq
MIRT1152890	hsa-miR-300	CLIP-seq
MIRT2571881	hsa-miR-3120-3p	CLIP-seq
MIRT2571882	hsa-miR-3142	CLIP-seq
MIRT2571883	hsa-miR-3145-3p	CLIP-seq
MIRT1152891	hsa-miR-3150b-3p	CLIP-seq
MIRT2571884	hsa-miR-3201	CLIP-seq
MIRT1152892	hsa-miR-323b-3p	CLIP-seq
MIRT1152893	hsa-miR-337-3p	CLIP-seq
MIRT2571885	hsa-miR-3646	CLIP-seq
MIRT1152895	hsa-miR-3691-5p	CLIP-seq
MIRT1152896	hsa-miR-381	CLIP-seq
MIRT1152897	hsa-miR-409-5p	CLIP-seq
MIRT2571886	hsa-miR-4272	CLIP-seq
MIRT1152898	hsa-miR-4311	CLIP-seq
MIRT1152899	hsa-miR-4491	CLIP-seq
MIRT2571887	hsa-miR-450b-5p	CLIP-seq
MIRT1152901	hsa-miR-4645-3p	CLIP-seq
MIRT1152902	hsa-miR-4657	CLIP-seq
MIRT1152903	hsa-miR-4666-3p	CLIP-seq
MIRT2571888	hsa-miR-4668-3p	CLIP-seq
MIRT1152904	hsa-miR-4752	CLIP-seq
MIRT1152905	hsa-miR-4764-5p	CLIP-seq
MIRT1152906	hsa-miR-4784	CLIP-seq
MIRT2571889	hsa-miR-4790-3p	CLIP-seq
MIRT2571890	hsa-miR-4791	CLIP-seq
MIRT1152907	hsa-miR-487a	CLIP-seq
MIRT1152908	hsa-miR-539	CLIP-seq
MIRT2571891	hsa-miR-545	CLIP-seq
MIRT1152909	hsa-miR-583	CLIP-seq
MIRT2571892	hsa-miR-590-3p	CLIP-seq
MIRT2571893	hsa-miR-630	CLIP-seq
MIRT1152910	hsa-miR-95	CLIP-seq
MIRT1152885	hsa-miR-10a	CLIP-seq
MIRT1152886	hsa-miR-10b	CLIP-seq
MIRT2571878	hsa-miR-1245b-5p	CLIP-seq
MIRT1152887	hsa-miR-1276	CLIP-seq
MIRT1152888	hsa-miR-1284	CLIP-seq
MIRT1152889	hsa-miR-140-3p	CLIP-seq
MIRT2571879	hsa-miR-190	CLIP-seq
MIRT2571880	hsa-miR-190b	CLIP-seq
MIRT1152890	hsa-miR-300	CLIP-seq
MIRT2571881	hsa-miR-3120-3p	CLIP-seq
MIRT2571882	hsa-miR-3142	CLIP-seq
MIRT2571883	hsa-miR-3145-3p	CLIP-seq
MIRT1152891	hsa-miR-3150b-3p	CLIP-seq
MIRT2571884	hsa-miR-3201	CLIP-seq
MIRT1152892	hsa-miR-323b-3p	CLIP-seq
MIRT1152893	hsa-miR-337-3p	CLIP-seq
MIRT2571885	hsa-miR-3646	CLIP-seq
MIRT1152895	hsa-miR-3691-5p	CLIP-seq
MIRT1152896	hsa-miR-381	CLIP-seq
MIRT1152897	hsa-miR-409-5p	CLIP-seq
MIRT2571886	hsa-miR-4272	CLIP-seq
MIRT1152898	hsa-miR-4311	CLIP-seq
MIRT1152899	hsa-miR-4491	CLIP-seq
MIRT2571887	hsa-miR-450b-5p	CLIP-seq
MIRT1152901	hsa-miR-4645-3p	CLIP-seq
MIRT1152902	hsa-miR-4657	CLIP-seq
MIRT1152903	hsa-miR-4666-3p	CLIP-seq
MIRT2571888	hsa-miR-4668-3p	CLIP-seq
MIRT1152904	hsa-miR-4752	CLIP-seq
MIRT1152905	hsa-miR-4764-5p	CLIP-seq
MIRT1152906	hsa-miR-4784	CLIP-seq
MIRT2571889	hsa-miR-4790-3p	CLIP-seq
MIRT2571890	hsa-miR-4791	CLIP-seq
MIRT1152907	hsa-miR-487a	CLIP-seq
MIRT1152908	hsa-miR-539	CLIP-seq
MIRT2571891	hsa-miR-545	CLIP-seq
MIRT1152909	hsa-miR-583	CLIP-seq
MIRT2571892	hsa-miR-590-3p	CLIP-seq
MIRT2571893	hsa-miR-630	CLIP-seq
MIRT1152910	hsa-miR-95	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23415655, 27771510, 32296183
GO:0005737	Component	Cytoplasm	IDA	23270877
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	23270877
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA	23270877
GO:0005829	Component	Cytosol	TAS
GO:0009235	Process	Cobalamin metabolic process	IDA	22156578, 24722857
GO:0009235	Process	Cobalamin metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0140104	Function	Molecular carrier activity	EXP	21071249
GO:0140104	Function	Molecular carrier activity	TAS

MIM	HGNC	e!Ensembl
611935	25221	ENSG00000168288

Q9H3L0

Protein name

Cobalamin trafficking protein CblD (CblD) (Methylmalonic aciduria and homocystinuria type D protein, mitochondrial)

Protein function

Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyaden

PDB

5CUZ , 5CV0 , 6X8Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10229	MMADHC	24 → 294	Methylmalonic aciduria and homocystinuria type D protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at high levels. {ECO:0000269|PubMed:18385497}.

Sequence

MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDE
TMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYV
NEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQ
KTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNN
TLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN

Sequence length

296

Interactions

View interactions

	KEGG		Reactome
	Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD

406

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cobalamin C disease	Likely pathogenic; Pathogenic	rs118204046, rs1475458864, rs886039425, rs2467645025, rs141093638, rs755561981	RCV001844002 RCV003155743 RCV003155139 RCV003231053 RCV003226449 RCV001293569
Homocystinuria-megaloblastic anemia cblD type	Likely pathogenic; Pathogenic	rs118204044, rs118204045, rs118204046	RCV000000797 RCV000000798 RCV000000799
Isolated methylmalonic aciduria cblD type	Pathogenic	rs397509361, rs118204047, rs397509362	RCV004730831 RCV004730832 RCV004730833
Methylmalonic aciduria and homocystinuria type cblD	Likely pathogenic; Pathogenic	rs2105042238, rs755561981, rs1385597423, rs2105042265, rs764179800, rs2105048127, rs2105045491, rs1162948308, rs2105042210, rs1431992617, rs118204044, rs118204046, rs397509361, rs118204047, rs397509362 View all (41 more)	RCV001877971 RCV001964039 RCV001977150 RCV001958800 RCV002000507 RCV001951055 RCV001958633 RCV001972601 RCV001982023 RCV001974702 RCV003147271 RCV001378885 RCV000203371 RCV000203332 RCV000203341 RCV000000803 RCV000000804 RCV000000805 RCV002716105 RCV002695932 RCV002838925 RCV002842526 RCV003014016 RCV000203351 RCV000203370 RCV000203311 RCV003475537 RCV001833299 RCV004572893 RCV003461867 RCV003461868 RCV003461869 RCV003476511 RCV003470156 RCV003461870 RCV003470157 RCV003470158 RCV003461871 RCV003495430 RCV003496127 RCV003494642 RCV003496603 RCV003600522 RCV003602109 RCV003602410 RCV003602401 RCV003602423 RCV003849524 RCV004576195 RCV004576196 RCV004576197 RCV000576880 RCV000791752 RCV000802757 RCV001052184 RCV001038948 RCV001062359 RCV001234309
See cases	Likely pathogenic; Pathogenic	rs118204046	RCV002251849

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Disorders of Intracellular Cobalamin Metabolism	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs141093638, rs11545261, rs549522925, rs138607412, rs147370143, rs546054980, rs147662711, rs6923, rs6742604, rs753424109, rs13402787, rs886054922, rs886054920, rs61746421, rs767542742 View all (20 more)	RCV001128816 RCV000401734 RCV001128927 RCV000259535 RCV000324144 RCV000286505 RCV000347488 RCV000400218 RCV000408333 RCV000312594 RCV000289849 RCV000295566 RCV000318431 RCV000390056 RCV000392417 RCV000264978 RCV000374959 RCV000305210 RCV000398902 RCV000353552 RCV000329546 RCV000320341 RCV000295930 RCV000304535 RCV000325834 RCV000335480 RCV001134453 RCV001131585 RCV001128809 RCV001128810 RCV001135921 RCV001128926 RCV001132636 RCV001128813 RCV001128814
Lung cancer	Benign	rs13402787	RCV005895950
MMADHC-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs146820547, rs754142876, rs141093638, rs138607412, rs147370143, rs73965920, rs139369078, rs1553453945, rs376032730	RCV003923617 RCV003977477 RCV003927725 RCV003937770 RCV003947906 RCV003959500 RCV003959936 RCV003962798 RCV003953623
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs13402787, rs988301282	RCV005895948 RCV005897990
Sarcoma	Benign	rs13402787	RCV005895947
Thymoma	Benign	rs13402787	RCV005895949
Uterine corpus endometrial carcinoma	Benign	rs13402787	RCV005895951

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autonomic Nervous System Diseases	Stimulate	21248188
Cough	Associate	21248188
Hereditary Sensory and Autonomic Neuropathies	Stimulate	21248188
Homocystinuria	Associate	15292234, 18385497, 22156578, 24722857, 26364851, 34083181
Homocystinuria Megaloblastic Anemia due to Defect in Cobalamin Metabolism CblE Complementation Type	Inhibit	15292234
Homocystinuria Megaloblastic Anemia due to Defect in Cobalamin Metabolism CblE Complementation Type	Associate	24722857
Methylmalonic acidemia	Associate	15292234, 18385497, 22156578, 24722857, 26364851, 26420839, 29996803, 33453710
Methylmalonic acidemia with homocystinuria	Associate	34655177
Methylmalonic Aciduria and Homocystinuria CblD Type	Associate	18385497, 24722857, 26364851, 34083181
Methylmalonic aciduria cblB type	Associate	15292234
Methylmalonic aciduria cblB type	Inhibit	24722857
Methylmalonic Aciduria due to Methylmalonyl CoA Mutase Deficiency	Associate	22156578, 24722857
Mycobacterium avium intracellulare Infection	Associate	34083181
Peripheral Nervous System Diseases	Stimulate	21248188
Vitamin B 12 Deficiency	Stimulate	21248188

MMADHC (metabolism of cobalamin associated D)