MMADHC (metabolism of cobalamin associated D)

Gene

• Entrez ID: 27249
• Gene name: Metabolism of cobalamin associated D
• Gene symbol: MMADHC
• Synonyms (NCBI Gene): C2orf25, CL25022, HMAD, MACD, MAHCD, cblD
• Disease Acronyms (UniProt): HMAD, MACD, MAHCD
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23415655, 27771510, 32296183
GO:0005737	Component	Cytoplasm	IDA	23270877
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	23270877
GO:0005829	Component	Cytosol	TAS
GO:0009235	Process	Cobalamin metabolic process	IDA	24722857
GO:0009235	Process	Cobalamin metabolic process	TAS

Other IDs

• MIM: 611935
• HGNC: 25221
• e!Ensembl: ENSG00000168288

Protein

• UniProt ID: 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

Pathways

KEGG:

Cobalamin transport and metabolism

Reactome:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Megaloblastic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Homocystinuria	Homocystinuria, Homocystinuria, CblD Type, Variant 1	rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs121434294, rs121434295, rs267606887, rs267606886, rs121434297, rs398123151, rs768434408, rs786204037, rs758206023, rs786204035, rs777661576, rs747846362, rs786204031, rs749765738, rs786204027, rs786204026, rs367585605, rs200137991, rs780014899, rs786204024, rs786204021, rs786204020, rs786204018, rs786204016, rs200100285, rs786204014, rs574132670, rs786204013, rs786204012, rs147257424, rs786204010, rs786204009, rs763539350, rs786204007, rs776483190, rs786204466, rs786204679, rs763036586, rs771298943, rs758236584, rs775351239, rs764160782, rs770095972, rs760214620, rs786204757, rs794727083, rs781444670, rs149119723, rs797044607, rs863223433, rs769080151, rs372010465, rs777919630, rs863223432, rs773734233, rs775992753, rs778220779, rs863223435, rs199948079, rs148865119, rs1057519363, rs759031330, rs1057519362, rs1057519361, rs1057519359, rs779250698, rs886057100, rs1057516895, rs1057516645, rs760417941, rs781567152, rs1057517373, rs746575551, rs766453711, rs1057517435, rs763835246, rs767036273, rs755952006, rs1057517083, rs1057516256, rs751464024, rs1057516552, rs748695461, rs757920190, rs528689432, rs765586205, rs377443637, rs757428597, rs1361324844, rs1347651454, rs1555871188, rs776734688, rs1553187509, rs986604359, rs143124288, rs1553185069, rs866630296, rs1555872787, rs1555873925, rs760609383, rs141502207, rs1555874263, rs1555875325, rs755625628, rs1555876784, rs1555869934, rs1555869958, rs1555869979, rs1434118781, rs1555874121, rs763290176, rs1555874803, rs1555875292, rs1555871095, rs865990681, rs1555876755, rs754980119, rs200688214, rs1568932440, rs1234354755, rs1557761665, rs762065361, rs140277700, rs139645527, rs750323424, rs368321176, rs1170128038, rs1601339216, rs776969786, rs1304669003, rs764338697, rs1380686004, rs1644227125, rs1644375837, rs1981524462, rs373782713, rs1644381879
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Methylcobalamin deficiency	Methylcobalamin deficiency type cblDv1	rs2126812944, rs137853061, rs2126808021, rs137853062, rs121913578, rs121913579, rs1661117141, rs797044444, rs797044445, rs121913580, rs121913581, rs794727395, rs147277149, rs1554006017, rs1293600145, rs1346847201, rs536238004, rs145939391, rs768980918, rs1572278166, rs1572309822, rs201718371, rs1579619636, rs1579758005, rs1572218599, rs893229476, rs754990692, rs1189298981, rs1662641467, rs1747827267, rs375908206, rs1664661222, rs1734858651, rs778738842
Methylmalonic acidemia with homocystinuria	Methylmalonic Aciduria and Homocystinuria, CblD Type, Methylmalonic acidemia with homocystinuria, type cblD	rs779151199, rs1562112641, rs118204044, rs118204046, rs397509361, rs118204047, rs397509362, rs118204048, rs397509363, rs397509364, rs398124292, rs387907315, rs2080853826, rs398122908, rs318240758, rs397515485, rs397515487, rs864309743, rs864309742, rs869312686, rs749272546, rs886039425, rs769364566, rs188675529, rs1553454436, rs751828470, rs1379672870, rs1553162317, rs767795583, rs1573878695, rs1385597423, rs1682706954, rs1308639482, rs1380343985, rs1573880177	18385497, 24722857, 22156578, 26483544, 27604308
Methylmalonic aciduria	Methylmalonic Aciduria, CblD Type, Variant 2	rs397509361, rs118204047, rs397509362, rs121918241, rs121918243, rs121918248, rs121918249, rs121918250, rs121918251, rs121918252, rs121918253, rs2127419920, rs121918254, rs121918255, rs121918256, rs121918257, rs121918258, rs1581819081, rs1412463565, rs111033538, rs28941784, rs1555274497, rs104893846, rs104893849, rs104893851, rs398123276, rs398123278, rs398124434, rs398124552, rs483352778, rs727504020, rs727504022, rs796051992, rs796051993, rs571038432, rs796052004, rs753564352, rs796052008, rs200019422, rs564069299, rs777031588, rs796052002, rs796052006, rs200596762, rs760782399, rs796052005, rs369296618, rs1555274496, rs756414548, rs864309509, rs376128990, rs864309510, rs864309511, rs864309512, rs765799472, rs864309725, rs864309726, rs864309727, rs754545360, rs864309728, rs864309729, rs140356252, rs864309730, rs779939886, rs864309731, rs779990936, rs140600746, rs777758903, rs864309738, rs753288303, rs772552898, rs864309734, rs864309736, rs778702777, rs864309733, rs864309735, rs761773115, rs746219370, rs199971687, rs763935916, rs879253852, rs879253851, rs879253850, rs879253849, rs879253848, rs879253847, rs879253846, rs879253845, rs879253844, rs879253843, rs533755473, rs879253842, rs879253841, rs879253840, rs879253838, rs879253839, rs758577372, rs879253837, rs879253836, rs879253835, rs761477436, rs12175488, rs879253834, rs747777227, rs879253833, rs879253832, rs879253831, rs200908035, rs879253830, rs879253829, rs879253828, rs879253827, rs879253826, rs879253825, rs879253824, rs879253823, rs879253821, rs879253820, rs879253822, rs869320656, rs869320657, rs765373403, rs869320653, rs869320654, rs869320655, rs775593146, rs1064796328, rs1064793768, rs1064793662, rs143023066, rs780068818, rs941483851, rs1553957883, rs754894257, rs1553957906, rs1553957907, rs780082584, rs1553958126, rs1553958127, rs1553958158, rs1553958392, rs1314623572, rs150376474, rs756221585, rs1553958417, rs1553959017, rs1553959024, rs1553959025, rs1553959152, rs1313120333, rs1029096863, rs999844958, rs1554161054, rs1554159942, rs1554159950, rs757548934, rs770466993, rs746085723, rs774159791, rs749758687, rs767593892, rs1554160743, rs1553957856, rs1553957862, rs754973022, rs1553958395, rs1553957938, rs1553957939, rs765726949, rs1553958720, rs751717131, rs758345818, rs1553957901, rs1553957931, rs1553958159, rs1553959113, rs1554158379, rs148285323, rs754369323, rs771542321, rs1554160246, rs1405705785, rs1554160638, rs1192889987, rs776176938, rs1554158325, rs747897332, rs372486357, rs768608311, rs1554158372, rs1476515561, rs750619189, rs765284825, rs780283588, rs758008398, rs1460509686, rs1437477079, rs1238694184, rs764173488, rs887126161, rs1554160198, rs780387525, rs1554160919, rs746274670, rs769348060, rs1554158377, rs1554158754, rs761525156, rs1346775255, rs752898811, rs965316043, rs1446389693, rs1555274254, rs773059864, rs1555276160, rs1555274493, rs768176676, rs557884699, rs1555275604, rs1383825118, rs1481415459, rs1555274484, rs1560802980, rs1560795828, rs1164271240, rs147715336, rs1561952122, rs1227030642, rs771021560, rs1568307275, rs1561959114, rs1028877309, rs781474200, rs535411418, rs1592997663, rs1592996077, rs1592998207, rs772888575, rs1581832011, rs1026703654, rs1728076151, rs1884201610, rs1884749143, rs142575695, rs1767133183
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spastic ataxia	Spastic Ataxia	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120, rs397509404, rs386833661, rs386834157, rs1553608221, rs587777197, rs587777198, rs886041035, rs199474695, rs199474696, rs727502823, rs727503785, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs753962912, rs143441644, rs786205598, rs797045936, rs780247476, rs797045937, rs797044608, rs752623413, rs876657721, rs876657720, rs878854975, rs1131690773, rs752059006, rs202199411, rs886041949, rs757872635, rs1057517123, rs747868017, rs1057517294, rs1057516347, rs1057517232, rs565203731, rs753205260, rs1057516398, rs1057516856, rs756597098, rs1057516578, rs1057516773, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517383, rs1057516464, rs1057517349, rs1057516875, rs1057517060, rs765992922, rs1057516853, rs1057517020, rs753012964, rs1057517212, rs1057517014, rs758572409, rs1057516959, rs1057516438, rs1057517451, rs747676277, rs145766983, rs1057516689, rs1057517222, rs1057517301, rs1057516932, rs1057516635, rs1057516295, rs1057517366, rs1057517099, rs759166250, rs1057517138, rs761089024, rs1057517172, rs1057517297, rs1057517311, rs1057517305, rs1057516580, rs1057516285, rs780197970, rs1057516294, rs1057516930, rs1057516779, rs1057516222, rs1057517039, rs1057516551, rs1057516767, rs766457071, rs1057517034, rs1057516624, rs1057516829, rs1057517437, rs1057517285, rs1057516554, rs1057516224, rs1057516543, rs1057516406, rs1057516365, rs1057516625, rs1057516987, rs1057517242, rs1057516820, rs1057516837, rs771943685, rs764254189, rs747779231, rs1060499656, rs371019314, rs1060503431, rs774906736, rs1064796693, rs1555251539, rs754439135, rs767871841, rs867249938, rs1440541889, rs776825296, rs1156566314, rs1160357920, rs773182375, rs1372213267, rs374128662, rs1360298758, rs1555250160, rs1555252345, rs923921184, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555249662, rs1555249977, rs1555250016, rs1555250183, rs1555250191, rs1555250642, rs1555250949, rs1555251301, rs1555251553, rs201690040, rs1214399996, rs1555251905, rs1408290451, rs1555251935, rs1555252349, rs1555252359, rs1555252388, rs1555252448, rs1555252465, rs1555252518, rs1555252545, rs959856535, rs1555252611, rs1555252634, rs1167474602, rs1175545518, rs1417057515, rs1555249338, rs1555249460, rs1555249599, rs1555249633, rs1555249648, rs1555249745, rs1555249789, rs1555249797, rs1555249878, rs1400601705, rs1555249966, rs1555250383, rs1555250987, rs1555251007, rs1555251428, rs1555251514, rs1555251840, rs1555251853, rs1555251990, rs1555252086, rs1555252458, rs1555252531, rs1555252786, rs1555252844, rs1555252876, rs1555252928, rs745961541, rs1555252929, rs745907077, rs753277514, rs1555254489, rs1555249326, rs1555249371, rs1555249695, rs1555249766, rs1555249826, rs1555249881, rs1555249894, rs1555249904, rs1555250022, rs1555250082, rs1555250508, rs1555250557, rs1555250684, rs1555250872, rs1279988199, rs1555251241, rs1555251254, rs1028098148, rs140034972, rs1555251421, rs1555251699, rs766711286, rs1555251944, rs1555251960, rs1555252113, rs1555252142, rs1485885260, rs1555252184, rs1459899547, rs1555252926, rs1555252944, rs1555254734, rs1555249607, rs1555250255, rs1555250359, rs1555250395, rs1555250653, rs1555250991, rs1555251015, rs1240368715, rs1555251151, rs1555251615, rs1555251818, rs1555251963, rs1485209013, rs1555252055, rs1188844823, rs1555252148, rs1555252587, rs1555252623, rs144267558, rs142037771, rs1555252953, rs1555254439, rs1555251822, rs1555255676, rs1567721108, rs1006060877, rs746220436, rs1566069517, rs1310569366, rs751568153, rs1181477970, rs1593129673, rs1593133395, rs994374354, rs1593121924, rs770490672, rs1593133306, rs1593121484, rs780184251, rs1581504953, rs1131040, rs1581505917, rs1593145590, rs1326359185, rs543422544, rs1593123432, rs772704931, rs753958013, rs927804920, rs1883405453, rs1868872666, rs769212398, rs757179309, rs772475828

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma			GWAS
Diabetes	Diabetes			GWAS
Rheumatic Heart Disease	Rheumatic Heart Disease			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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