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

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
Cobalamin C disease	Likely pathogenic; Pathogenic	rs118204046, rs1475458864, rs886039425, rs2467645025, rs141093638, rs755561981	RCV001844002 RCV003155743 RCV003155139 RCV003231053 RCV003226449 RCV001293569 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Homocystinuria-megaloblastic anemia cblD type	Likely pathogenic; Pathogenic	rs118204044, rs118204045, rs118204046	RCV000000797 RCV000000798 RCV000000799	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated methylmalonic aciduria cblD type	Pathogenic	rs397509361, rs118204047, rs397509362	RCV004730831 RCV004730832 RCV004730833	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (53 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

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.
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF COBALAMIN METABOLISM AND TRANSPORT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorders of Intracellular Cobalamin Metabolism	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLD TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA, CBLD TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MMADHC-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA, TYPE CBLDV2	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Megaloblastic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	21248188	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	21248188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	21248188	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	15292234, 18385497, 22156578, 24722857, 26364851, 34083181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	18385497, 19058814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria, CblD Type, Variant 1	Homocystinuria	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria, CblD Type, Variant 1	Homocystinuria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Homocystinuria, CblD Type, Variant 1	Homocystinuria	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylcobalamin deficiency type cblDv1	Methylcobalamin Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	15292234, 18385497, 22156578, 24722857, 26364851, 26420839, 29996803, 33453710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	34655177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria, type cblD	Methylmalonic Acidemia With Homocystinuria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria CblD Type	Methylmalonic acidemia	Pubtator	18385497, 24722857, 26364851, 34083181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria, CblD Type	Methylmalonic acidemia with homocystinuria	ORPHANET_DG	18385497		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria, CblD Type	Methylmalonic acidemia with homocystinuria	UNIPROT_DG	18385497, 24722857, 26483544		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria, CblD Type	Methylmalonic acidemia with homocystinuria	CLINVAR_DG	22156578		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria, CblD Type	Methylmalonic acidemia with homocystinuria	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria, CblD Type	Methylmalonic acidemia with homocystinuria	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria cblB type	Methylmalonic acidemia	Pubtator	15292234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic aciduria cblB type	Methylmalonic acidemia	Pubtator	24722857	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria, CblD Type, Variant 2	Methylmalonic Aciduria	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria, CblD Type, Variant 2	Methylmalonic Aciduria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	21248188	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	21248188	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MMADHC (metabolism of cobalamin associated D)