MVK (mevalonate kinase)

Gene

• Entrez ID: 4598
• Gene name: Mevalonate kinase
• Gene symbol: MVK
• Synonyms: LRBP, MK, MVLK, POROK3
• Chromosome: 12
• Chromosome location: 12q24.11
• Summary: This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934897	G>A	Pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs72648042	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs76914224	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Coding sequence variant, missense variant
rs104895298	G>A	Pathogenic, not-provided	Coding sequence variant, intron variant, missense variant
rs104895300	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs104895301	G>A	Pathogenic	Coding sequence variant, missense variant
rs104895304	T>C	Pathogenic	Coding sequence variant, missense variant
rs104895311	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs104895317	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104895319	G>A	Pathogenic, not-provided	Coding sequence variant, genic downstream transcript variant, missense variant
rs104895323	G>-,GG	Pathogenic, not-provided	Frameshift variant, coding sequence variant, intron variant
rs104895324	A>G	Likely-pathogenic, not-provided, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs104895332	T>C	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, missense variant
rs104895352	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs104895360	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained, genic downstream transcript variant
rs104895362	G>A,T	Pathogenic, not-provided	Splice donor variant, genic downstream transcript variant
rs104895366	A>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs104895373	->C	Pathogenic, not-provided	Frameshift variant, coding sequence variant, intron variant
rs104895382	T>C	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, missense variant
rs121917789	A>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121917790	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs138342076	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, intron variant, synonymous variant
rs397514570	T>C	Pathogenic	Missense variant, coding sequence variant
rs397514571	T>C	Pathogenic	Missense variant, coding sequence variant
rs398122910	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398122911	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs758026399	C>T	Pathogenic	Stop gained, coding sequence variant
rs759997079	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs775474803	C>G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs886048933	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1295630463	A>G,T	Likely-pathogenic	Intron variant
rs1555278380	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555279757	T>C	Likely-pathogenic	Stop lost, terminator codon variant, genic downstream transcript variant
rs1566147222	T>A	Pathogenic	Stop gained, coding sequence variant
rs1593015642	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1593021917	G>A	Pathogenic	Stop gained, coding sequence variant
rs1593026935	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022207	hsa-miR-124-3p	Microarray	18668037
MIRT724892	hsa-miR-4519	HITS-CLIP	19536157
MIRT724891	hsa-miR-4530	HITS-CLIP	19536157
MIRT724890	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT724889	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT724888	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT724887	hsa-miR-4731-5p	HITS-CLIP	19536157
MIRT724886	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT724885	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT724884	hsa-miR-4505	HITS-CLIP	19536157
MIRT724883	hsa-miR-5787	HITS-CLIP	19536157
MIRT724882	hsa-miR-6762-5p	HITS-CLIP	19536157
MIRT724881	hsa-miR-6845-5p	HITS-CLIP	19536157
MIRT724880	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT724879	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT724878	hsa-miR-1227-5p	HITS-CLIP	19536157
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT639795	hsa-miR-3938	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT639794	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT639793	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT639792	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT639791	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT639790	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT639789	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT639788	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT724892	hsa-miR-4519	HITS-CLIP	19536157
MIRT724891	hsa-miR-4530	HITS-CLIP	19536157
MIRT724890	hsa-miR-338-3p	HITS-CLIP	19536157
MIRT724889	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT724888	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT724887	hsa-miR-4731-5p	HITS-CLIP	19536157
MIRT724886	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT724885	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT724884	hsa-miR-4505	HITS-CLIP	19536157
MIRT724883	hsa-miR-5787	HITS-CLIP	19536157
MIRT724882	hsa-miR-6762-5p	HITS-CLIP	19536157
MIRT724881	hsa-miR-6845-5p	HITS-CLIP	19536157
MIRT724880	hsa-miR-128-1-5p	HITS-CLIP	19536157
MIRT724879	hsa-miR-128-2-5p	HITS-CLIP	19536157
MIRT724878	hsa-miR-1227-5p	HITS-CLIP	19536157
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT639795	hsa-miR-3938	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT639794	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT639793	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT639792	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT639791	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT639790	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT639789	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT639788	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT614618	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT614617	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT614616	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT614615	hsa-miR-8063	HITS-CLIP	23824327
MIRT614614	hsa-miR-1267	HITS-CLIP	23824327
MIRT614613	hsa-miR-642a-3p	HITS-CLIP	23824327
MIRT614612	hsa-miR-642b-3p	HITS-CLIP	23824327
MIRT614611	hsa-miR-514a-3p	HITS-CLIP	23824327
MIRT614610	hsa-miR-514b-3p	HITS-CLIP	23824327
MIRT1166622	hsa-miR-1225-3p	CLIP-seq
MIRT1166623	hsa-miR-125a-5p	CLIP-seq
MIRT1166624	hsa-miR-125b	CLIP-seq
MIRT1166625	hsa-miR-1273	CLIP-seq
MIRT1166626	hsa-miR-1273c	CLIP-seq
MIRT1166627	hsa-miR-1275	CLIP-seq
MIRT1166628	hsa-miR-1321	CLIP-seq
MIRT1166629	hsa-miR-185	CLIP-seq
MIRT1166630	hsa-miR-196a	CLIP-seq
MIRT1166631	hsa-miR-196b	CLIP-seq
MIRT1166632	hsa-miR-302a	CLIP-seq
MIRT1166633	hsa-miR-302b	CLIP-seq
MIRT1166634	hsa-miR-302c	CLIP-seq
MIRT1166635	hsa-miR-302d	CLIP-seq
MIRT1166636	hsa-miR-302e	CLIP-seq
MIRT1166637	hsa-miR-3154	CLIP-seq
MIRT1166638	hsa-miR-3180	CLIP-seq
MIRT1166639	hsa-miR-3180-3p	CLIP-seq
MIRT1166640	hsa-miR-3184	CLIP-seq
MIRT1166641	hsa-miR-3189-5p	CLIP-seq
MIRT1166642	hsa-miR-3192	CLIP-seq
MIRT1166643	hsa-miR-3196	CLIP-seq
MIRT1166644	hsa-miR-331-3p	CLIP-seq
MIRT1166645	hsa-miR-3689a-3p	CLIP-seq
MIRT1166646	hsa-miR-3689c	CLIP-seq
MIRT1166647	hsa-miR-3692	CLIP-seq
MIRT1166648	hsa-miR-372	CLIP-seq
MIRT1166649	hsa-miR-373	CLIP-seq
MIRT1166650	hsa-miR-3927	CLIP-seq
MIRT1166651	hsa-miR-3936	CLIP-seq
MIRT1166652	hsa-miR-423-5p	CLIP-seq
MIRT1166653	hsa-miR-4292	CLIP-seq
MIRT1166654	hsa-miR-4306	CLIP-seq
MIRT1166655	hsa-miR-4319	CLIP-seq
MIRT1166656	hsa-miR-4323	CLIP-seq
MIRT1166657	hsa-miR-4418	CLIP-seq
MIRT1166658	hsa-miR-4419a	CLIP-seq
MIRT1166659	hsa-miR-4435	CLIP-seq
MIRT1166660	hsa-miR-4488	CLIP-seq
MIRT1166661	hsa-miR-4493	CLIP-seq
MIRT1166662	hsa-miR-4510	CLIP-seq
MIRT1166663	hsa-miR-4525	CLIP-seq
MIRT1166664	hsa-miR-4644	CLIP-seq
MIRT1166665	hsa-miR-4650-3p	CLIP-seq
MIRT1166666	hsa-miR-4663	CLIP-seq
MIRT1166667	hsa-miR-4665-5p	CLIP-seq
MIRT1166668	hsa-miR-4697-5p	CLIP-seq
MIRT1166669	hsa-miR-4717-5p	CLIP-seq
MIRT1166670	hsa-miR-4723-5p	CLIP-seq
MIRT1166671	hsa-miR-4728-5p	CLIP-seq
MIRT1166672	hsa-miR-4732-3p	CLIP-seq
MIRT1166673	hsa-miR-4739	CLIP-seq
MIRT1166674	hsa-miR-4746-5p	CLIP-seq
MIRT1166675	hsa-miR-4747-5p	CLIP-seq
MIRT1166676	hsa-miR-4753-5p	CLIP-seq
MIRT1166677	hsa-miR-4756-5p	CLIP-seq
MIRT1166678	hsa-miR-4797-5p	CLIP-seq
MIRT1166679	hsa-miR-509-3-5p	CLIP-seq
MIRT1166680	hsa-miR-509-5p	CLIP-seq
MIRT1166681	hsa-miR-512-3p	CLIP-seq
MIRT1166682	hsa-miR-520a-3p	CLIP-seq
MIRT1166683	hsa-miR-520b	CLIP-seq
MIRT1166684	hsa-miR-520c-3p	CLIP-seq
MIRT1166685	hsa-miR-520d-3p	CLIP-seq
MIRT1166686	hsa-miR-520e	CLIP-seq
MIRT1166687	hsa-miR-625	CLIP-seq
MIRT1166688	hsa-miR-637	CLIP-seq
MIRT1166689	hsa-miR-670	CLIP-seq
MIRT1166690	hsa-miR-939	CLIP-seq
MIRT1166691	hsa-miR-1343	CLIP-seq
MIRT1166692	hsa-miR-3690	CLIP-seq
MIRT1166693	hsa-miR-4254	CLIP-seq
MIRT1166658	hsa-miR-4419a	CLIP-seq
MIRT1166662	hsa-miR-4510	CLIP-seq
MIRT1166694	hsa-miR-4779	CLIP-seq
MIRT1166695	hsa-miR-516a-3p	CLIP-seq
MIRT1166696	hsa-miR-765	CLIP-seq
MIRT2048190	hsa-miR-106a	CLIP-seq
MIRT2048191	hsa-miR-106b	CLIP-seq
MIRT2048192	hsa-miR-17	CLIP-seq
MIRT2048193	hsa-miR-1912	CLIP-seq
MIRT2048194	hsa-miR-20a	CLIP-seq
MIRT2048195	hsa-miR-20b	CLIP-seq
MIRT1166632	hsa-miR-302a	CLIP-seq
MIRT1166633	hsa-miR-302b	CLIP-seq
MIRT1166634	hsa-miR-302c	CLIP-seq
MIRT1166635	hsa-miR-302d	CLIP-seq
MIRT1166636	hsa-miR-302e	CLIP-seq
MIRT2048196	hsa-miR-3199	CLIP-seq
MIRT1166647	hsa-miR-3692	CLIP-seq
MIRT1166648	hsa-miR-372	CLIP-seq
MIRT1166649	hsa-miR-373	CLIP-seq
MIRT2048197	hsa-miR-4300	CLIP-seq
MIRT2048198	hsa-miR-4318	CLIP-seq
MIRT2048199	hsa-miR-448	CLIP-seq
MIRT2048200	hsa-miR-4648	CLIP-seq
MIRT2048201	hsa-miR-4654	CLIP-seq
MIRT1166666	hsa-miR-4663	CLIP-seq
MIRT2048202	hsa-miR-4769-5p	CLIP-seq
MIRT1166681	hsa-miR-512-3p	CLIP-seq
MIRT2048203	hsa-miR-519a	CLIP-seq
MIRT2048204	hsa-miR-519b-3p	CLIP-seq
MIRT2048205	hsa-miR-519c-3p	CLIP-seq
MIRT2048206	hsa-miR-519d	CLIP-seq
MIRT1166682	hsa-miR-520a-3p	CLIP-seq
MIRT1166683	hsa-miR-520b	CLIP-seq
MIRT1166684	hsa-miR-520c-3p	CLIP-seq
MIRT1166685	hsa-miR-520d-3p	CLIP-seq
MIRT1166686	hsa-miR-520e	CLIP-seq
MIRT2048207	hsa-miR-920	CLIP-seq
MIRT2048208	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	ISS
GO:0004496	Function	Mevalonate kinase activity	IBA	21873635
GO:0004496	Function	Mevalonate kinase activity	IDA	1377680, 9325256, 14680974, 14730012, 18302342
GO:0004496	Function	Mevalonate kinase activity	IMP	10369261
GO:0005515	Function	Protein binding	IPI	21044950, 32296183
GO:0005524	Function	ATP binding	ISS
GO:0005777	Component	Peroxisome	IDA	14730012
GO:0005777	Component	Peroxisome	ISS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	14730012
GO:0005829	Component	Cytosol	TAS
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006695	Process	Cholesterol biosynthetic process	IDA	1377680
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0008299	Process	Isoprenoid biosynthetic process	IDA	14680974, 14730012
GO:0016310	Process	Phosphorylation	IEA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA	21873635
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA
GO:0042802	Function	Identical protein binding	IDA	9325256
GO:0042802	Function	Identical protein binding	IPI	16189514, 25502805, 26871637, 31515488, 32296183
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0050728	Process	Negative regulation of inflammatory response	IMP	16732551

Other IDs

• MIM: 251170
• HGNC: 7530
• e!Ensembl: ENSG00000110921

Protein

• UniProt ID: Q03426
• Protein name: Mevalonate kinase (MK) (EC 2.7.1.36)
• Protein function: Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, PubMed:18302342, PubMed:9325256, PubMed:9392419). {ECO:0000269|PubMed:11278915, ECO:0000269|PubMed:183
• PDB: 2R3V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00288	GHMP_kinases_N	130 → 212	GHMP kinases N terminal domain	Family
  PF08544	GHMP_kinases_C	289 → 366	GHMP kinases C terminal	Family

• Sequence:

  MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR
  AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSIC
  RKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKE
  DLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVP
  RNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
  NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQAL
  TSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL

• Sequence length: 396

Pathways

KEGG:

Terpenoid backbone biosynthesis
Metabolic pathways
Peroxisome

Reactome:

Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoinflammatory disease	Autoinflammatory disorder, Hereditary Autoinflammatory Diseases	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	16435210
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Cerebellar vermis agenesis	Familial aplasia of the vermis	rs201108965, rs13297509, rs121918129, rs121918130, rs121918197, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs121434348, rs121434349, rs267606641, rs201391050, rs387907003, rs199469707, rs11230683, rs386834044, rs386834149, rs267604575, rs587777079, rs587777653, rs587783013, rs778149316, rs786204135, rs386834043, rs786204189, rs786204788, rs794729195, rs534542684, rs797045223, rs863224523, rs201502401, rs374144275, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs863225199, rs775518991, rs752300607, rs863225202, rs863225200, rs863225198, rs754637179, rs755459875, rs863225151, rs863225222, rs863225221, rs863225220, rs201010803, rs863225214, rs369488112, rs863225207, rs863225204, rs863225210, rs754279998, rs863225208, rs863225209, rs863225206, rs1555600644, rs863225205, rs750436680, rs863225150, rs757863670, rs864309712, rs878855006, rs1114167302, rs768663992, rs760952407, rs1057517498, rs1057517528, rs767384710, rs756789619, rs1057520085, rs1057520162, rs142759730, rs372770167, rs759799287, rs753432312, rs780265931, rs1114167448, rs1114167449, rs779450345, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs767018622, rs565629362, rs905262279, rs1554214237, rs771866500, rs754404879, rs1554972547, rs1560002959, rs1564430716, rs756276537, rs1431917892, rs1565088283, rs1277577195, rs1562753388, rs772289223, rs777215595, rs747322175, rs751823180, rs751477523, rs187245292, rs1574587553, rs762334514, rs747514855, rs1318058212, rs1583179845, rs1589150410, rs1588830568, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs771226563, rs1784887448, rs781198326
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
Hyperimmunoglobulinemia	Hyperimmunoglobulinemia D	rs28934897, rs104895317, rs104895295, rs104895304, rs121917790, rs104895319, rs104895334, rs104895300, rs104895301, rs104895373, rs104895322, rs104895323, rs104895324, rs104895360, rs104895368, rs104895306, rs104895369, rs104895370, rs104895382, rs104895307, rs104895297, rs104895363, rs104895298, rs104895299, rs104895311, rs104895332, rs104895335, rs104895364, rs104895303, rs104895366, rs104895339, rs104895315, rs104895316, rs104895321, rs104895352, rs104895305, rs104895308, rs1593015642, rs1593026935, rs1593021917	24233262, 23979089, 16435210, 15536479, 16835861, 18008182, 21425920, 12477733, 24084495, 10401001, 26116953, 11313769, 24073415, 9334262, 24360083, 25866490, 26202976, 24177804, 26633545, 21228398, 27377765, 10369262, 10369261, 19786432, 24561416, 25708585, 11313768, 17596604, 21548022, 28095071, 19011501, 11111075, 26977311, 12563048, 20194276, 27142780, 12634869, 23692791, 24470648, 10417275, 22038276, 27213830
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
Methylmalonic aciduria	Methylmalonic aciduria cblB type	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	23707710
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Migraine	Migraine Disorders	rs794727411
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Porokeratosis	Porokeratosis, Porokeratosis, Disseminated Superficial Actinic, Porokeratosis of Mibelli, Actinic porokeratosis, POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	rs397514570, rs104895301, rs104895373, rs397514571, rs398122910, rs398122911, rs606231251, rs863225241, rs769193201, rs104895362, rs761991070, rs755948940	26202976, 22983302, 24781643, 26202976, 24781643, 28095071, 9334262, 12634869, 21548022, 16835861, 23692791, 10369261, 26202976, 11313769, 26116953, 20194276, 22983302, 24084495, 24470648, 10417275, 10401001, 24781643, 27213830, 23979089, 21425920, 27142780, 12563048, 26977311, 19786432, 19011501, 15536479, 11111075, 28543715, 16435210
Rod-cone dystrophy	obsolete Rod-cone dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Cerebellar atrophy	Cerebellar atrophy
Cerebral atrophy	Cerebral atrophy
Cerebral cortical atrophy	Cerebral cortical atrophy
Deficiency of mevalonate kinase	Deficiency of mevalonate kinase		12477733, 24073415, 18008182, 27377765, 17596604, 10369261
Disseminated superficial actinic porokeratosis	Porokeratosis, Disseminated Superficial Actinic, 3, Disseminated superficial actinic porokeratosis
Dolichocephaly	Long narrow head
Dwarfism	Dwarfism
Hyperkeratosis	Hyperkeratosis
Hypoplastic anemia	Normocytic hypoplastic anemia
Intestinal obstruction	Intestinal Obstruction
Liver carcinoma	Liver carcinoma		21147110
Neutrophilia	Neutrophilia (disorder)
Nyctalopia	Nyctalopia
Parakeratosis	Parakeratosis
Polyarthralgia	Polyarthralgia		10369261
Posteriorly rotated ear	Posteriorly rotated ear
Urticaria	Urticaria