MMACHC (metabolism of cobalamin associated C)

Gene

• Entrez ID: 25974
• Gene name: Metabolism of cobalamin associated C
• Gene symbol: MMACHC
• Synonyms (NCBI Gene): cblC
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918240	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918241	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121918242	C>T	Pathogenic	Stop gained, coding sequence variant
rs121918243	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs140522266	G>A,C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs200094982	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200895671	C>A,T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs201025783	G>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Terminator codon variant, stop lost
rs201183360	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs201266016	C>A	Pathogenic	Coding sequence variant, stop gained
rs370596113	C>A,G,T	Pathogenic, likely-pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant, stop gained
rs371753672	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372670428	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs398124292	->A	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, intron variant
rs398124294	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs398124295	G>A	Pathogenic	Coding sequence variant, stop gained
rs398124296	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs528744719	C>G,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs538023671	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs556977618	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, intron variant
rs587776889	G>A	Pathogenic	Stop gained, coding sequence variant
rs606231425	G>A	Pathogenic	Coding sequence variant, missense variant
rs746135357	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs747527726	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs749264632	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs756980496	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs757325789	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs759188647	C>T	Pathogenic	Coding sequence variant, stop gained
rs765913293	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771673343	G>A	Pathogenic-likely-pathogenic	Stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs796051995	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs796051996	G>A	Pathogenic	Coding sequence variant, stop gained
rs796051998	TAC>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs796051999	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052000	AACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796064513	GCCCCC>-	Conflicting-interpretations-of-pathogenicity, not-provided, uncertain-significance	Coding sequence variant, inframe deletion
rs1002571805	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1233135084	T>C	Pathogenic	Coding sequence variant, missense variant
rs1255179780	G>A	Pathogenic-likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, intron variant
rs1257204721	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1305170860	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1311416761	GACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1347498294	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1356587420	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1463495909	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1481893137	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1553162786	->T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1553162788	AGAG>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553162821	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553162857	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553162868	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553162910	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1553162918	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553162923	AGAGGTGCCAGAT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1553162931	GACTGTGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553162943	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557607997	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1570829502	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs1570829757	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1570829862	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1570833527	->T	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027474	hsa-miR-98-5p	Microarray	19088304
MIRT051928	hsa-let-7b-5p	CLASH	23622248
MIRT038225	hsa-miR-342-5p	CLASH	23622248
MIRT1152816	hsa-miR-105	CLIP-seq
MIRT1152817	hsa-miR-1185	CLIP-seq
MIRT1152818	hsa-miR-1200	CLIP-seq
MIRT1152819	hsa-miR-1227	CLIP-seq
MIRT1152820	hsa-miR-1253	CLIP-seq
MIRT1152821	hsa-miR-1303	CLIP-seq
MIRT1152822	hsa-miR-1539	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT1152824	hsa-miR-24	CLIP-seq
MIRT1152825	hsa-miR-3125	CLIP-seq
MIRT1152826	hsa-miR-3126-5p	CLIP-seq
MIRT1152827	hsa-miR-3135	CLIP-seq
MIRT1152828	hsa-miR-3145-3p	CLIP-seq
MIRT1152829	hsa-miR-3173-5p	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT1152831	hsa-miR-3199	CLIP-seq
MIRT1152832	hsa-miR-3664-5p	CLIP-seq
MIRT1152833	hsa-miR-3679-5p	CLIP-seq
MIRT1152834	hsa-miR-3714	CLIP-seq
MIRT1152835	hsa-miR-3916	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT1152837	hsa-miR-4252	CLIP-seq
MIRT1152838	hsa-miR-4255	CLIP-seq
MIRT1152839	hsa-miR-4284	CLIP-seq
MIRT1152840	hsa-miR-4324	CLIP-seq
MIRT1152841	hsa-miR-4419a	CLIP-seq
MIRT1152842	hsa-miR-4424	CLIP-seq
MIRT1152843	hsa-miR-4432	CLIP-seq
MIRT1152844	hsa-miR-4433	CLIP-seq
MIRT1152845	hsa-miR-4434	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT1152849	hsa-miR-4493	CLIP-seq
MIRT1152850	hsa-miR-4510	CLIP-seq
MIRT1152851	hsa-miR-4516	CLIP-seq
MIRT1152852	hsa-miR-4522	CLIP-seq
MIRT1152853	hsa-miR-4643	CLIP-seq
MIRT1152854	hsa-miR-4650-5p	CLIP-seq
MIRT1152855	hsa-miR-4653-3p	CLIP-seq
MIRT1152856	hsa-miR-466	CLIP-seq
MIRT1152857	hsa-miR-4678	CLIP-seq
MIRT1152858	hsa-miR-4694-5p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT1152861	hsa-miR-4749-3p	CLIP-seq
MIRT1152862	hsa-miR-4755-3p	CLIP-seq
MIRT1152863	hsa-miR-4761-5p	CLIP-seq
MIRT1152864	hsa-miR-4768-3p	CLIP-seq
MIRT1152865	hsa-miR-4789-3p	CLIP-seq
MIRT1152866	hsa-miR-4793-3p	CLIP-seq
MIRT1152867	hsa-miR-4797-5p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT1152869	hsa-miR-499-5p	CLIP-seq
MIRT1152870	hsa-miR-508-5p	CLIP-seq
MIRT1152871	hsa-miR-5095	CLIP-seq
MIRT1152872	hsa-miR-542-3p	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT1152874	hsa-miR-548ae	CLIP-seq
MIRT1152875	hsa-miR-548aj	CLIP-seq
MIRT1152876	hsa-miR-548am	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT1152878	hsa-miR-548u	CLIP-seq
MIRT1152879	hsa-miR-548x	CLIP-seq
MIRT1152880	hsa-miR-579	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT1152882	hsa-miR-766	CLIP-seq
MIRT1152883	hsa-miR-877	CLIP-seq
MIRT1152884	hsa-miR-9	CLIP-seq
MIRT1551339	hsa-miR-2116	CLIP-seq
MIRT1551340	hsa-miR-3135b	CLIP-seq
MIRT1551341	hsa-miR-3689d	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT1551342	hsa-miR-4487	CLIP-seq
MIRT1551343	hsa-miR-4652-3p	CLIP-seq
MIRT1551344	hsa-miR-4677-5p	CLIP-seq
MIRT1152816	hsa-miR-105	CLIP-seq
MIRT2043699	hsa-miR-106a	CLIP-seq
MIRT2043700	hsa-miR-106b	CLIP-seq
MIRT2043701	hsa-miR-1208	CLIP-seq
MIRT1152819	hsa-miR-1227	CLIP-seq
MIRT2043702	hsa-miR-1307	CLIP-seq
MIRT2043703	hsa-miR-138	CLIP-seq
MIRT2043704	hsa-miR-17	CLIP-seq
MIRT2043705	hsa-miR-1910	CLIP-seq
MIRT2043706	hsa-miR-20a	CLIP-seq
MIRT2043707	hsa-miR-20b	CLIP-seq
MIRT2043708	hsa-miR-2114	CLIP-seq
MIRT2043709	hsa-miR-216b	CLIP-seq
MIRT1152825	hsa-miR-3125	CLIP-seq
MIRT1152827	hsa-miR-3135	CLIP-seq
MIRT2043710	hsa-miR-3162-3p	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT2043711	hsa-miR-33a	CLIP-seq
MIRT2043712	hsa-miR-33b	CLIP-seq
MIRT2043713	hsa-miR-3663-5p	CLIP-seq
MIRT2043714	hsa-miR-3671	CLIP-seq
MIRT1152835	hsa-miR-3916	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2043715	hsa-miR-3927	CLIP-seq
MIRT2043716	hsa-miR-3935	CLIP-seq
MIRT2043717	hsa-miR-3937	CLIP-seq
MIRT2043718	hsa-miR-3944-5p	CLIP-seq
MIRT2043719	hsa-miR-411	CLIP-seq
MIRT1152837	hsa-miR-4252	CLIP-seq
MIRT1152839	hsa-miR-4284	CLIP-seq
MIRT2043720	hsa-miR-4292	CLIP-seq
MIRT2043721	hsa-miR-4308	CLIP-seq
MIRT2043722	hsa-miR-4420	CLIP-seq
MIRT1152843	hsa-miR-4432	CLIP-seq
MIRT1152844	hsa-miR-4433	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT2043723	hsa-miR-4638-5p	CLIP-seq
MIRT1152855	hsa-miR-4653-3p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT2043724	hsa-miR-4703-3p	CLIP-seq
MIRT2043725	hsa-miR-4742-3p	CLIP-seq
MIRT1152862	hsa-miR-4755-3p	CLIP-seq
MIRT1152864	hsa-miR-4768-3p	CLIP-seq
MIRT1152866	hsa-miR-4793-3p	CLIP-seq
MIRT1152867	hsa-miR-4797-5p	CLIP-seq
MIRT2043726	hsa-miR-483-5p	CLIP-seq
MIRT2043727	hsa-miR-485-5p	CLIP-seq
MIRT1152869	hsa-miR-499-5p	CLIP-seq
MIRT1152870	hsa-miR-508-5p	CLIP-seq
MIRT1152871	hsa-miR-5095	CLIP-seq
MIRT2043728	hsa-miR-515-3p	CLIP-seq
MIRT2043729	hsa-miR-519d	CLIP-seq
MIRT2043730	hsa-miR-519e	CLIP-seq
MIRT2043731	hsa-miR-520g	CLIP-seq
MIRT2043732	hsa-miR-520h	CLIP-seq
MIRT1152872	hsa-miR-542-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT2043733	hsa-miR-607	CLIP-seq
MIRT2043734	hsa-miR-616	CLIP-seq
MIRT2043735	hsa-miR-642b	CLIP-seq
MIRT1152882	hsa-miR-766	CLIP-seq
MIRT2043736	hsa-miR-93	CLIP-seq
MIRT2273135	hsa-miR-1207-5p	CLIP-seq
MIRT1152819	hsa-miR-1227	CLIP-seq
MIRT2273136	hsa-miR-1234	CLIP-seq
MIRT2273137	hsa-miR-1272	CLIP-seq
MIRT2273138	hsa-miR-1273e	CLIP-seq
MIRT2273139	hsa-miR-1293	CLIP-seq
MIRT2273140	hsa-miR-1322	CLIP-seq
MIRT2273141	hsa-miR-142-3p	CLIP-seq
MIRT1152822	hsa-miR-1539	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2273142	hsa-miR-302f	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT1152827	hsa-miR-3135	CLIP-seq
MIRT2273144	hsa-miR-3165	CLIP-seq
MIRT2273145	hsa-miR-3677-5p	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT1152837	hsa-miR-4252	CLIP-seq
MIRT2273150	hsa-miR-4269	CLIP-seq
MIRT1152842	hsa-miR-4424	CLIP-seq
MIRT2273151	hsa-miR-4426	CLIP-seq
MIRT1152844	hsa-miR-4433	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT1152848	hsa-miR-4459	CLIP-seq
MIRT2273152	hsa-miR-4483	CLIP-seq
MIRT2273153	hsa-miR-4517	CLIP-seq
MIRT2273154	hsa-miR-4647	CLIP-seq
MIRT1152855	hsa-miR-4653-3p	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2273156	hsa-miR-4662b	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT2273158	hsa-miR-4691-3p	CLIP-seq
MIRT2273159	hsa-miR-4698	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT2273161	hsa-miR-4731-5p	CLIP-seq
MIRT2273162	hsa-miR-4736	CLIP-seq
MIRT2273163	hsa-miR-4763-3p	CLIP-seq
MIRT1152864	hsa-miR-4768-3p	CLIP-seq
MIRT1152866	hsa-miR-4793-3p	CLIP-seq
MIRT1152867	hsa-miR-4797-5p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT1152870	hsa-miR-508-5p	CLIP-seq
MIRT1152871	hsa-miR-5095	CLIP-seq
MIRT2273164	hsa-miR-510	CLIP-seq
MIRT2273165	hsa-miR-511	CLIP-seq
MIRT2273166	hsa-miR-512-3p	CLIP-seq
MIRT2273167	hsa-miR-512-5p	CLIP-seq
MIRT2273168	hsa-miR-522	CLIP-seq
MIRT1152872	hsa-miR-542-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT1152878	hsa-miR-548u	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT2273170	hsa-miR-7	CLIP-seq
MIRT2273171	hsa-miR-759	CLIP-seq
MIRT1152882	hsa-miR-766	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT2438605	hsa-let-7a	CLIP-seq
MIRT2438606	hsa-let-7b	CLIP-seq
MIRT2438607	hsa-let-7c	CLIP-seq
MIRT2438608	hsa-let-7d	CLIP-seq
MIRT2438609	hsa-let-7e	CLIP-seq
MIRT2438610	hsa-let-7f	CLIP-seq
MIRT2438611	hsa-let-7g	CLIP-seq
MIRT2438612	hsa-let-7i	CLIP-seq
MIRT2438613	hsa-miR-202	CLIP-seq
MIRT2438614	hsa-miR-4458	CLIP-seq
MIRT2438615	hsa-miR-4500	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT2438616	hsa-miR-98	CLIP-seq
MIRT2454261	hsa-miR-3613-3p	CLIP-seq
MIRT2454262	hsa-miR-3675-3p	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT2454263	hsa-miR-4684-5p	CLIP-seq
MIRT2454264	hsa-miR-4717-3p	CLIP-seq
MIRT2454265	hsa-miR-548c-3p	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT2438605	hsa-let-7a	CLIP-seq
MIRT2438606	hsa-let-7b	CLIP-seq
MIRT2438607	hsa-let-7c	CLIP-seq
MIRT2438608	hsa-let-7d	CLIP-seq
MIRT2438609	hsa-let-7e	CLIP-seq
MIRT2438610	hsa-let-7f	CLIP-seq
MIRT2438611	hsa-let-7g	CLIP-seq
MIRT2438612	hsa-let-7i	CLIP-seq
MIRT1152816	hsa-miR-105	CLIP-seq
MIRT2571812	hsa-miR-1225-5p	CLIP-seq
MIRT1152820	hsa-miR-1253	CLIP-seq
MIRT2571813	hsa-miR-1254	CLIP-seq
MIRT2273137	hsa-miR-1272	CLIP-seq
MIRT2571814	hsa-miR-1292	CLIP-seq
MIRT2043702	hsa-miR-1307	CLIP-seq
MIRT2273140	hsa-miR-1322	CLIP-seq
MIRT2571815	hsa-miR-134	CLIP-seq
MIRT2043703	hsa-miR-138	CLIP-seq
MIRT2273141	hsa-miR-142-3p	CLIP-seq
MIRT2571816	hsa-miR-15a	CLIP-seq
MIRT2571817	hsa-miR-15b	CLIP-seq
MIRT2571818	hsa-miR-16	CLIP-seq
MIRT2043705	hsa-miR-1910	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2571819	hsa-miR-195	CLIP-seq
MIRT2438613	hsa-miR-202	CLIP-seq
MIRT2571820	hsa-miR-2052	CLIP-seq
MIRT2571821	hsa-miR-2110	CLIP-seq
MIRT2043708	hsa-miR-2114	CLIP-seq
MIRT2043709	hsa-miR-216b	CLIP-seq
MIRT2571822	hsa-miR-3116	CLIP-seq
MIRT2571823	hsa-miR-3118	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT1152825	hsa-miR-3125	CLIP-seq
MIRT1152826	hsa-miR-3126-5p	CLIP-seq
MIRT2571824	hsa-miR-3132	CLIP-seq
MIRT2571825	hsa-miR-3140-3p	CLIP-seq
MIRT2571826	hsa-miR-3150a-3p	CLIP-seq
MIRT2571827	hsa-miR-3160-5p	CLIP-seq
MIRT2043710	hsa-miR-3162-3p	CLIP-seq
MIRT2571828	hsa-miR-3164	CLIP-seq
MIRT1152829	hsa-miR-3173-5p	CLIP-seq
MIRT2571829	hsa-miR-3182	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT2571830	hsa-miR-3189-3p	CLIP-seq
MIRT2571831	hsa-miR-339-5p	CLIP-seq
MIRT2454261	hsa-miR-3613-3p	CLIP-seq
MIRT2571832	hsa-miR-3658	CLIP-seq
MIRT2571833	hsa-miR-3662	CLIP-seq
MIRT2043714	hsa-miR-3671	CLIP-seq
MIRT2454262	hsa-miR-3675-3p	CLIP-seq
MIRT2571834	hsa-miR-3676	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT1152835	hsa-miR-3916	CLIP-seq
MIRT2571835	hsa-miR-3918	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT2043718	hsa-miR-3944-5p	CLIP-seq
MIRT2571836	hsa-miR-409-5p	CLIP-seq
MIRT2571837	hsa-miR-424	CLIP-seq
MIRT1152838	hsa-miR-4255	CLIP-seq
MIRT2571838	hsa-miR-4260	CLIP-seq
MIRT2571839	hsa-miR-4264	CLIP-seq
MIRT2571840	hsa-miR-4271	CLIP-seq
MIRT2571841	hsa-miR-4272	CLIP-seq
MIRT1152839	hsa-miR-4284	CLIP-seq
MIRT2043720	hsa-miR-4292	CLIP-seq
MIRT2571842	hsa-miR-4302	CLIP-seq
MIRT2043721	hsa-miR-4308	CLIP-seq
MIRT1152841	hsa-miR-4419a	CLIP-seq
MIRT1152845	hsa-miR-4434	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT2571843	hsa-miR-4446-3p	CLIP-seq
MIRT2571844	hsa-miR-4446-5p	CLIP-seq
MIRT2571845	hsa-miR-4453	CLIP-seq
MIRT2571846	hsa-miR-4456	CLIP-seq
MIRT2438614	hsa-miR-4458	CLIP-seq
MIRT2571847	hsa-miR-4468	CLIP-seq
MIRT2571848	hsa-miR-4471	CLIP-seq
MIRT2571849	hsa-miR-4476	CLIP-seq
MIRT2438615	hsa-miR-4500	CLIP-seq
MIRT2571850	hsa-miR-4505	CLIP-seq
MIRT1152850	hsa-miR-4510	CLIP-seq
MIRT2571851	hsa-miR-4512	CLIP-seq
MIRT2571852	hsa-miR-4513	CLIP-seq
MIRT1152851	hsa-miR-4516	CLIP-seq
MIRT2273153	hsa-miR-4517	CLIP-seq
MIRT2571853	hsa-miR-4520a-3p	CLIP-seq
MIRT2571854	hsa-miR-4520b-3p	CLIP-seq
MIRT2571855	hsa-miR-4538	CLIP-seq
MIRT2043723	hsa-miR-4638-5p	CLIP-seq
MIRT1152853	hsa-miR-4643	CLIP-seq
MIRT1152856	hsa-miR-466	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2571856	hsa-miR-4668-5p	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT1152857	hsa-miR-4678	CLIP-seq
MIRT2454263	hsa-miR-4684-5p	CLIP-seq
MIRT2571857	hsa-miR-4685-5p	CLIP-seq
MIRT1152858	hsa-miR-4694-5p	CLIP-seq
MIRT2571858	hsa-miR-4699-3p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT2571859	hsa-miR-4725-3p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT1152862	hsa-miR-4755-3p	CLIP-seq
MIRT2571860	hsa-miR-4755-5p	CLIP-seq
MIRT2571861	hsa-miR-4757-5p	CLIP-seq
MIRT1152863	hsa-miR-4761-5p	CLIP-seq
MIRT2571862	hsa-miR-4762-3p	CLIP-seq
MIRT2571863	hsa-miR-4786-5p	CLIP-seq
MIRT1152865	hsa-miR-4789-3p	CLIP-seq
MIRT2571864	hsa-miR-4795-3p	CLIP-seq
MIRT2571865	hsa-miR-4797-3p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT2571866	hsa-miR-497	CLIP-seq
MIRT2571867	hsa-miR-502-5p	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT2454265	hsa-miR-548c-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT2571868	hsa-miR-583	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT2571869	hsa-miR-603	CLIP-seq
MIRT2043733	hsa-miR-607	CLIP-seq
MIRT2571870	hsa-miR-627	CLIP-seq
MIRT2571871	hsa-miR-651	CLIP-seq
MIRT2571872	hsa-miR-656	CLIP-seq
MIRT2571873	hsa-miR-661	CLIP-seq
MIRT2571874	hsa-miR-670	CLIP-seq
MIRT2273170	hsa-miR-7	CLIP-seq
MIRT2571875	hsa-miR-769-5p	CLIP-seq
MIRT2571876	hsa-miR-890	CLIP-seq
MIRT1152884	hsa-miR-9	CLIP-seq
MIRT2571877	hsa-miR-924	CLIP-seq
MIRT2438616	hsa-miR-98	CLIP-seq
MIRT2438605	hsa-let-7a	CLIP-seq
MIRT2438606	hsa-let-7b	CLIP-seq
MIRT2438607	hsa-let-7c	CLIP-seq
MIRT2438608	hsa-let-7d	CLIP-seq
MIRT2438609	hsa-let-7e	CLIP-seq
MIRT2438610	hsa-let-7f	CLIP-seq
MIRT2438611	hsa-let-7g	CLIP-seq
MIRT2438612	hsa-let-7i	CLIP-seq
MIRT1152820	hsa-miR-1253	CLIP-seq
MIRT2273137	hsa-miR-1272	CLIP-seq
MIRT2571814	hsa-miR-1292	CLIP-seq
MIRT2273140	hsa-miR-1322	CLIP-seq
MIRT2571815	hsa-miR-134	CLIP-seq
MIRT2273141	hsa-miR-142-3p	CLIP-seq
MIRT2571816	hsa-miR-15a	CLIP-seq
MIRT2571817	hsa-miR-15b	CLIP-seq
MIRT2571818	hsa-miR-16	CLIP-seq
MIRT2043705	hsa-miR-1910	CLIP-seq
MIRT1152823	hsa-miR-1915	CLIP-seq
MIRT2571819	hsa-miR-195	CLIP-seq
MIRT2438613	hsa-miR-202	CLIP-seq
MIRT2043708	hsa-miR-2114	CLIP-seq
MIRT2571823	hsa-miR-3118	CLIP-seq
MIRT2273143	hsa-miR-3122	CLIP-seq
MIRT1152826	hsa-miR-3126-5p	CLIP-seq
MIRT2043710	hsa-miR-3162-3p	CLIP-seq
MIRT2571828	hsa-miR-3164	CLIP-seq
MIRT1152829	hsa-miR-3173-5p	CLIP-seq
MIRT1152830	hsa-miR-3187-3p	CLIP-seq
MIRT2043711	hsa-miR-33a	CLIP-seq
MIRT2043712	hsa-miR-33b	CLIP-seq
MIRT2454261	hsa-miR-3613-3p	CLIP-seq
MIRT2454262	hsa-miR-3675-3p	CLIP-seq
MIRT2571834	hsa-miR-3676	CLIP-seq
MIRT2273146	hsa-miR-3689a-3p	CLIP-seq
MIRT2273147	hsa-miR-3689c	CLIP-seq
MIRT2273148	hsa-miR-3913-5p	CLIP-seq
MIRT2571835	hsa-miR-3918	CLIP-seq
MIRT1152836	hsa-miR-3926	CLIP-seq
MIRT2273149	hsa-miR-3934	CLIP-seq
MIRT2043718	hsa-miR-3944-5p	CLIP-seq
MIRT2571836	hsa-miR-409-5p	CLIP-seq
MIRT2571837	hsa-miR-424	CLIP-seq
MIRT1152838	hsa-miR-4255	CLIP-seq
MIRT2571839	hsa-miR-4264	CLIP-seq
MIRT2571841	hsa-miR-4272	CLIP-seq
MIRT2571842	hsa-miR-4302	CLIP-seq
MIRT1152841	hsa-miR-4419a	CLIP-seq
MIRT2273151	hsa-miR-4426	CLIP-seq
MIRT1152845	hsa-miR-4434	CLIP-seq
MIRT1152846	hsa-miR-4435	CLIP-seq
MIRT1152847	hsa-miR-4438	CLIP-seq
MIRT2571843	hsa-miR-4446-3p	CLIP-seq
MIRT2571845	hsa-miR-4453	CLIP-seq
MIRT2438614	hsa-miR-4458	CLIP-seq
MIRT2571847	hsa-miR-4468	CLIP-seq
MIRT2571848	hsa-miR-4471	CLIP-seq
MIRT2438615	hsa-miR-4500	CLIP-seq
MIRT2571850	hsa-miR-4505	CLIP-seq
MIRT1152850	hsa-miR-4510	CLIP-seq
MIRT2571851	hsa-miR-4512	CLIP-seq
MIRT2571852	hsa-miR-4513	CLIP-seq
MIRT1152851	hsa-miR-4516	CLIP-seq
MIRT2273153	hsa-miR-4517	CLIP-seq
MIRT2571853	hsa-miR-4520a-3p	CLIP-seq
MIRT2571854	hsa-miR-4520b-3p	CLIP-seq
MIRT2571855	hsa-miR-4538	CLIP-seq
MIRT1152853	hsa-miR-4643	CLIP-seq
MIRT2273154	hsa-miR-4647	CLIP-seq
MIRT1152856	hsa-miR-466	CLIP-seq
MIRT2273155	hsa-miR-4662a-5p	CLIP-seq
MIRT2273156	hsa-miR-4662b	CLIP-seq
MIRT2273157	hsa-miR-4676-5p	CLIP-seq
MIRT2454263	hsa-miR-4684-5p	CLIP-seq
MIRT2571857	hsa-miR-4685-5p	CLIP-seq
MIRT1152858	hsa-miR-4694-5p	CLIP-seq
MIRT1152859	hsa-miR-4701-5p	CLIP-seq
MIRT1152860	hsa-miR-4726-3p	CLIP-seq
MIRT2273160	hsa-miR-4728-5p	CLIP-seq
MIRT2571861	hsa-miR-4757-5p	CLIP-seq
MIRT1152863	hsa-miR-4761-5p	CLIP-seq
MIRT1152865	hsa-miR-4789-3p	CLIP-seq
MIRT2571865	hsa-miR-4797-3p	CLIP-seq
MIRT1152868	hsa-miR-486-5p	CLIP-seq
MIRT2571866	hsa-miR-497	CLIP-seq
MIRT1152873	hsa-miR-544b	CLIP-seq
MIRT2454265	hsa-miR-548c-3p	CLIP-seq
MIRT1152877	hsa-miR-548s	CLIP-seq
MIRT2273169	hsa-miR-575	CLIP-seq
MIRT1152881	hsa-miR-588	CLIP-seq
MIRT2571869	hsa-miR-603	CLIP-seq
MIRT2571876	hsa-miR-890	CLIP-seq
MIRT1152884	hsa-miR-9	CLIP-seq
MIRT2438616	hsa-miR-98	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HCFC1	Unknown	24011988

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23415655, 23825108, 25535791, 27771510, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23270877
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	23270877
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006749	Process	Glutathione metabolic process	IDA	19801555, 22642810
GO:0009235	Process	Cobalamin metabolic process	IBA
GO:0009235	Process	Cobalamin metabolic process	IDA	19700356, 22642810
GO:0009235	Process	Cobalamin metabolic process	IMP	23825108
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IDA	19801555, 21697092
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	EXP	19801555, 21697092
GO:0031419	Function	Cobalamin binding	IEA
GO:0032451	Function	Demethylase activity	IBA
GO:0032451	Function	Demethylase activity	IDA	19801555
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IBA
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IDA	19700356
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IEA
GO:0033787	Function	Cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	22642810
GO:0043295	Function	Glutathione binding	IDA	22642810
GO:0070988	Process	Demethylation	IDA	19801555
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	19700356

Other IDs

• MIM: 609831
• HGNC: 24525
• e!Ensembl: ENSG00000132763

Protein

• UniProt ID: Q9Y4U1
• Protein name: Cyanocobalamin reductase / alkylcobalamin dealkylase (Alkylcobalamin:glutathione S-alkyltransferase) (EC 2.5.1.151) (CblC) (Cyanocobalamin reductase (cyanide-eliminating)) (EC 1.16.1.6) (Methylmalonic aciduria and homocystinuria type C protein) (MMACHC)
• Protein function: Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubM
• PDB: 3SBY, 3SBZ, 3SC0, 3SOM, 5UOS, 7WUZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16690	MMACHC	20 → 234	Methylmalonic aciduria and homocystinuria type C family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO:0000269|PubMed:16311595}.
• Sequence:

  MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFD
  RALKPFLQSCHLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTA
  AHVAGAAYYYQRQDVEADPWGNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPH
  DCVPTRADRIALLEGFNFHWRDWTYRDAVTPQERYSEEQKAYFSTPPAQRLALLGLAQPS
  EKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASPGP

• Sequence length: 282

Pathways

KEGG:

Vitamin digestion and absorption
Cobalamin transport and metabolism

Reactome:

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Pathogenic	rs121918241	RCV001813934	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical hemolytic-uremic syndrome	Pathogenic	rs398124292	RCV001328208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
cblC type of combined methylmalonic aciduria and homocystinuria	Pathogenic	rs121918241	RCV001250251	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cobalamin C disease	Pathogenic; Likely pathogenic	rs755843695, rs370596113, rs1305170860, rs398124295, rs398124296, rs765960386, rs2149323203, rs756413692, rs1553162934, rs1399932916, rs1363738186, rs2149323575, rs2149323826, rs1343936481, rs2149323805, rs528744719, rs1553162901, rs768353633, rs768978351, rs2149323618, rs2149323564, rs1289618918, rs2149323994, rs202000595, rs2149323855, rs2149323872, rs765913293, rs2149323799, rs1643666556, rs398124292, rs121918240, rs121918241, rs121918242, rs121918243, rs556977618, rs606231425, rs2522798233, rs2522819881, rs2522798359, rs2522820086, rs761221416, rs2522797763, rs2522827017, rs2522820123, rs779893448, rs796051995, rs796052000, rs796051998, rs796051996, rs140522266, rs796051999, rs796051997, rs538023671, rs773968018, rs745366624, rs2522827076, rs2522826772, rs2522820794, rs2522828488, rs777251123, rs770084300, rs747527726, rs2522824693, rs1178984269, rs200094982, rs2522798223, rs2522827461, rs2522827904, rs376964010, rs764409631, rs2522827131, rs2522820330, rs2522826859, rs1338125377, rs1276164380, rs2522828214, rs1643683466, rs1295015390, rs2522824447, rs758477536, rs2522819978, rs1383465849, rs2522798017, rs2522820797, rs2522826850, rs2522824468, rs1643683813, rs2522819771, rs2522819783, rs1643677014, rs2522826741, rs587776889, rs1553162786, rs749264632, rs201266016, rs759188647, rs546099787, rs1255179780, rs1311416761, rs747550590, rs1002571805, rs1553162918, rs1553162923, rs1463495909, rs1347498294, rs1481893137, rs1257204721, rs574983400, rs755881820, rs1553162788, rs771673343, rs1553162821, rs752205161, rs1553162857, rs746135357, rs1553162868, rs757325789, rs1553162910, rs200895671, rs1553162931, rs1553162937, rs1553162943, rs1356587420, rs1557607997, rs1570829502, rs1570829757, rs1570829862, rs372670428, rs1233135084, rs1570833527, rs201777449, rs371753672, rs1643668441, rs1643682280, rs1643667928, rs1163462384	RCV001323234 RCV000340205 RCV000266579 RCV000383499 RCV000272939 RCV001390500 RCV001390651 RCV001390451 RCV001390854 RCV001389512 RCV001387872 RCV001844375 RCV003600015 RCV001815629 RCV001825111 RCV001867599 RCV002030936 RCV001991647 RCV001932334 RCV001958489 RCV002050458 RCV002002413 RCV002007156 RCV002006628 RCV002007580 RCV001941845 RCV002037976 RCV002003344 RCV001970034 RCV002039287 RCV002041245 RCV000001486 RCV000001487 RCV000001488 RCV000001489 RCV000001490 RCV000148298 RCV000148299 RCV000148300 RCV002306492 RCV002309542 RCV002309550 RCV002307127 RCV003068298 RCV002648152 RCV002648154 RCV002646172 RCV000664762 RCV000671572 RCV000531346 RCV000641155 RCV000190393 RCV000586798 RCV000576585 RCV001004153 RCV001946440 RCV000490478 RCV002811327 RCV002834505 RCV002847753 RCV002889562 RCV002975122 RCV002967840 RCV003049329 RCV003032729 RCV003052324 RCV003155654 RCV000267790 RCV003231051 RCV003389274 RCV000504286 RCV003461865 RCV003470144 RCV003470145 RCV003470146 RCV003470147 RCV003470149 RCV003470150 RCV003470152 RCV003461866 RCV003470153 RCV003470154 RCV003470155 RCV003486326 RCV003496556 RCV003496347 RCV003497071 RCV003494629 RCV003601642 RCV003601751 RCV003602188 RCV003600026 RCV003600040 RCV003600260 RCV003600315 RCV003601276 RCV004576191 RCV004576192 RCV000666093 RCV000023785 RCV000477768 RCV000477781 RCV000641152 RCV000590695 RCV001210411 RCV000667730 RCV000672739 RCV000669122 RCV000669305 RCV000665556 RCV000669370 RCV000668801 RCV000671954 RCV000672749 RCV000674536 RCV000674328 RCV000672551 RCV000668639 RCV000668405 RCV000673566 RCV000669100 RCV000672157 RCV000672964 RCV000672078 RCV000671638 RCV000674067 RCV000667746 RCV000664503 RCV000669321 RCV000674933 RCV000665310 RCV000670372 RCV000674997 RCV000671439 RCV000674810 RCV000672361 RCV000664669 RCV000782135 RCV001004149 RCV001004150 RCV001004151 RCV001004152 RCV001004154 RCV001004155 RCV001004156 RCV001059924 RCV001052682 RCV001064646 RCV001065545 RCV001378413 RCV001212480 RCV001257404 RCV001283805	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Disorders of Intracellular Cobalamin Metabolism	Pathogenic; Likely pathogenic	rs398124292, rs121918240, rs121918241, rs121918242, rs121918243, rs140522266, rs587776889	RCV000308836 RCV002512644 RCV002512645 RCV002512646 RCV002512647 RCV000262040 RCV002513204	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Homocystinuria	Likely pathogenic; Pathogenic	rs140522266	RCV001027895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic acidemia with homocystinuria cblC	Pathogenic; Likely pathogenic	rs370596113, rs1305170860, rs398124295, rs398124296, rs398124292, rs121918241, rs121918242, rs121918243, rs779893448, rs796051995, rs796052000, rs140522266, rs796051999, rs747527726, rs758477536, rs587776889, rs201266016, rs546099787, rs1463495909, rs1553162821, rs757325789, rs200895671, rs1233135084	RCV001273228 RCV001273230 RCV001275214 RCV001275218 RCV001273215 RCV001273221 RCV001273220 RCV001273229 RCV001272216 RCV001273214 RCV001273219 RCV001273223 RCV001273224 RCV001273222 RCV001275217 RCV001272215 RCV001275215 RCV001275219 RCV001272218 RCV001273233 RCV001275216 RCV001273217 RCV001273225 RCV001273232 RCV001273234	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic aciduria	Likely pathogenic; Pathogenic	rs140522266	RCV001027895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic aciduria and homocystinuria	Pathogenic	rs398124292	RCV004798712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic aciduria and homocystinuria type cblD	Pathogenic	rs121918241	RCV004794321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	Pathogenic	rs398124292, rs1553162317	RCV000585799 RCV000585803	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Pathogenic; Likely pathogenic	rs121918241, rs121918243	RCV000721968 RCV000721969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MMACHC-related disorder	Pathogenic; Likely pathogenic	rs370596113, rs398124296, rs398124292, rs121918242, rs121918243, rs796051998, rs140522266, rs200094982	RCV004755764 RCV004755765 RCV003421892 RCV004755697 RCV003894782 RCV003407684 RCV004755795 RCV003417958	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs200094982	RCV001074563	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLC	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic aciduria, type cblc	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29945960		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37386009	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29777097, 30617256		★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	21497120	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	23825108		★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	38178022	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33804237	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32746869	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25883215		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24466333, 25883215, 36043996	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29377892	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25230976, 36385010	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	38168585	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21497120, 32068834, 40441036	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	29731766		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	21497120	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	35660814	Associate	★☆☆☆☆ Found in Text Mining only
Cyanosis	Cyanosis	Pubtator	32443968	Associate	★☆☆☆☆ Found in Text Mining only
Cystathioninemia	Cystathioninemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32746869	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16311595, 16714133, 19370762, 21748409, 25398587, 26283149, 26658511		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	25281006		★☆☆☆☆ Found in Text Mining only
Gamma-cystathionase deficiency	Gamma-Cystathionase Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	24974159		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	40527782	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32443968	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	31137025		★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	15292234, 20696242, 28481040, 30157807, 32457044, 33804237, 39322052, 40441036	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria	Homocystinuria	BEFREE	19836982, 20631720, 30157807		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Homocystinuria	Homocystinuria	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	Pubtator	32746869	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	21497120, 39322052	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29581464	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	32443968, 38168585	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	26283149		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24853097		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	40441036	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	40441036	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy concentric annular	Macular dystrophy	Pubtator	25687216	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25883215		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29945960		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29377892	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35660814, 40441036	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	15292234, 20696242, 30157807, 31574870, 32457044, 33514801, 33797888, 33804237, 33982424, 35361390, 35660814, 38178022, 39523381, 39633313, 40441036, 40527782	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	21497120	Stimulate	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	32443968	Inhibit	★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	CLINVAR_DG	11261516, 16311595, 16714133, 17768669, 17853453, 18164228, 18245139, 18848477, 19370762, 19700356, 19760748, 19767224, 19914430, 20219402, 20610126, 20631720, 20924684, 21228398, 21835369, 22447314, 22560872, 22642810, 23825108, 23837176, 23954310, 24126030, 24210589, 24599607, 25388550, 25398587, 25687216, 25689098, 25772322, 25809485, 25894566, 26149271, 26270766, 26283149, 26412180, 26658511, 26825575, 27252276, 27383490, 27751223, 28218226, 28327205, 28693988, 29042959, 29294253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	UNIPROT_DG	16311595, 19700356, 20219402, 22642810, 25809485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	CLINGEN_DG	16311595, 16963011, 18164228, 18779575, 19700356, 23580368, 24889031, 26149271, 28693988, 30157807		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	ORPHANET_DG	16311595, 21497120		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	GENOMICS_ENGLAND_DG	17874135, 20610126, 20631720, 26283149, 27324188, 27604308, 30204970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	BEFREE	18164228, 18245139, 22560872, 24853097, 31279840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	20219402, 21835369, 24011988, 25367534, 25687216, 25809485, 26149271, 26464686, 28481040, 29302025, 30157807, 31092259, 31574870, 32746869, 33804237, 33982424, 34215320, 34655177, 36056359, 37770946, 38178022, 40441036	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	25367534, 32443968, 34854955, 37611544	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria	Methylmalonic Acidemia With Homocystinuria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic acidemia with homocystinuria, type cblC	Methylmalonic Acidemia With Homocystinuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria CblD Type	Methylmalonic acidemia	Pubtator	21835369, 25687216, 26464686	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	21497120	Inhibit	★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	21497120, 25687216, 31905202, 32068834, 33797888, 35709987, 37264743, 38178022	Associate	★☆☆☆☆ Found in Text Mining only
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	Methylmalonic acidemia with homocystinuria	ORPHANET_DG	16311595, 21497120		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	Methylmalonic acidemia with homocystinuria	CLINGEN_DG	16311595, 16963011, 18164228, 18779575, 19700356, 23580368, 24889031, 26149271, 28693988, 30157807		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	Methylmalonic acidemia with homocystinuria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	16311595, 16714133, 19370762, 21748409, 25398587, 26283149, 26658511		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22315494		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29945960		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	36056359	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21497120	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	38168585	Associate	★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	29731766		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	36056359	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	24853097		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32746869	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	39322052	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	21497120, 25740848		★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	29302025	Associate	★☆☆☆☆ Found in Text Mining only