MVK (mevalonate kinase)

Gene

• Entrez ID: 4598
• Gene name: Mevalonate kinase
• Gene symbol: MVK
• Synonyms (NCBI Gene): 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:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	ISS
GO:0004496	Function	Mevalonate kinase activity	IBA
GO:0004496	Function	Mevalonate kinase activity	IDA	1377680, 9325256, 14680974, 14730012, 18302342
GO:0004496	Function	Mevalonate kinase activity	IEA
GO:0004496	Function	Mevalonate kinase activity	IMP	10369261
GO:0005515	Function	Protein binding	IPI	21044950, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	14730012
GO:0005777	Component	Peroxisome	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	14730012
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IDA	1377680
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008299	Process	Isoprenoid biosynthetic process	IDA	14680974, 14730012
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA
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:0046872	Function	Metal ion binding	IEA
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

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
Autoinflammatory syndrome	Pathogenic; Likely pathogenic	rs104895311, rs104895364, rs104895352, rs1566150887, rs28934897, rs104895304, rs104895319	RCV002262661 RCV002262662 RCV002262665 RCV002262076 RCV002262563 RCV002262564 RCV002262565	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
autosomal recessive MVK-related disorders	Likely pathogenic; Pathogenic	rs28934897	RCV006439567	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs398122910	RCV005888872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deficiency of mevalonate kinase	Likely pathogenic; Pathogenic	rs104895324, rs104895332, rs104895305, rs104895362, rs104895373	RCV005632234 RCV005632235 RCV005632236 RCV005636844 RCV005632193	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperimmunoglobulin D with periodic fever	Likely pathogenic; Pathogenic	rs1885666876, rs104895324, rs104895360, rs104895368, rs104895306, rs104895369, rs104895370, rs104895382, rs104895307, rs104895297, rs104895323, rs104895363, rs104895298, rs104895299, rs104895311, rs104895332, rs104895335, rs104895364, rs104895303, rs104895366, rs104895339, rs104895315, rs104895316, rs104895321, rs104895352, rs104895305, rs104895308, rs2136236945, rs2136216750, rs2548625552, rs775702104, rs2548623624, rs1885664895, rs2548631951, rs2548642861, rs2548631795, rs2548631938, rs104895300, rs758026399, rs104895362, rs28934897, rs104895317, rs104895295, rs104895304, rs121917790, rs104895319, rs104895334, rs1885418521, rs104895373, rs2548630725, rs1241492890, rs2548625278, rs2548618895, rs2548616797, rs2548631897, rs2548631903, rs1191193699, rs2548642823, rs2548630750, rs2548642794, rs2548625240, rs886048933, rs104895301, rs1566147222, rs767853272, rs1593015642, rs11544299, rs1593026935, rs1593021917, rs776735249, rs1884932883, rs104895322, rs971159663, rs1884864809	RCV001348249 RCV000083821 RCV000083824 RCV000083826 RCV000083828 RCV000083831 RCV000083832 RCV000645101 RCV000083837 RCV000083839 RCV000083841 RCV000083843 RCV000083844 RCV000083845 RCV000083849 RCV000083853 RCV000083854 RCV000083855 RCV000083860 RCV000083864 RCV000083868 RCV000083877 RCV000083879 RCV000083882 RCV000083883 RCV000083889 RCV000083892 RCV001383960 RCV002243551 RCV003041169 RCV003062543 RCV003051166 RCV002633630 RCV002846993 RCV002847968 RCV002872701 RCV003020765 RCV003008474 RCV001215092 RCV005011248 RCV000012705 RCV000074422 RCV000012707 RCV000012709 RCV000012711 RCV000697433 RCV000083827 RCV005209620 RCV003782450 RCV003782884 RCV003783599 RCV003783601 RCV003804127 RCV003796932 RCV003800346 RCV003808628 RCV003809196 RCV003801959 RCV003815725 RCV003815273 RCV003810626 RCV003818135 RCV001384473 RCV000032937 RCV000032938 RCV000083840 RCV000695407 RCV002535041 RCV003989122 RCV000804120 RCV000988902 RCV001002702 RCV002489730 RCV001213473 RCV000083866 RCV000083842 RCV001227276 RCV001233803	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mevalonic aciduria	Likely pathogenic; Pathogenic	rs1885666876, rs104895324, rs104895360, rs104895368, rs104895306, rs104895369, rs104895370, rs104895382, rs104895307, rs104895323, rs104895363, rs104895298, rs104895299, rs104895311, rs104895332, rs104895335, rs104895364, rs104895303, rs104895366, rs104895339, rs104895315, rs104895321, rs104895352, rs104895305, rs104895308, rs2136236945, rs1198834556, rs2548625552, rs775702104, rs2548623624, rs1885664895, rs2548631951, rs2548642861, rs2548631795, rs2548631938, rs104895300, rs758026399, rs104895362, rs121917789, rs28934897, rs104895317, rs104895295, rs104895304, rs121917790, rs104895319, rs104895334, rs1885418521, rs104895373, rs2548630725, rs1241492890, rs2548625278, rs2548618895, rs2548616797, rs2548631897, rs2548631903, rs1191193699, rs2548642823, rs2548630750, rs2548642794, rs2548625240, rs886048933, rs1295630463, rs104895301, rs1566147222, rs767853272, rs11544299, rs776735249, rs1884932883, rs104895322, rs971159663, rs1884864809	RCV001348249 RCV000690628 RCV001038569 RCV001216056 RCV003764774 RCV002514464 RCV005008000 RCV000645101 RCV005003460 RCV004767065 RCV002514465 RCV001854464 RCV005222743 RCV001381668 RCV000799676 RCV003764776 RCV001857407 RCV001383593 RCV001381669 RCV002513866 RCV004700401 RCV002514466 RCV000693669 RCV005003461 RCV002513867 RCV001383960 RCV002509768 RCV003041169 RCV003062543 RCV003051166 RCV002633630 RCV002846993 RCV002847968 RCV002872701 RCV003020765 RCV003008474 RCV001215092 RCV005011248 RCV000012704 RCV000191108 RCV000012706 RCV000012708 RCV000012710 RCV001219913 RCV000697433 RCV000012713 RCV005209620 RCV003782450 RCV003782884 RCV003783599 RCV003783601 RCV003804127 RCV003796932 RCV003800346 RCV003808628 RCV003809196 RCV003801959 RCV003815725 RCV003815273 RCV003810626 RCV003818135 RCV001384473 RCV000578362 RCV003764651 RCV000032939 RCV000032941 RCV000695407 RCV002535041 RCV000804120 RCV001797820 RCV001213473 RCV000074424 RCV001227276 RCV001233803	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MVK-related disorder	Likely pathogenic; Pathogenic	rs104895324, rs104895360, rs104895382, rs28934897, rs104895304, rs1885418521, rs1566147222	RCV004528781 RCV004529877 RCV005229891 RCV000791161 RCV002255091 RCV004534287 RCV004544947	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Porokeratosis 3, disseminated superficial actinic type	Likely pathogenic; Pathogenic	rs1885666876, rs104895324, rs104895360, rs104895368, rs104895306, rs104895369, rs104895370, rs104895382, rs104895307, rs104895363, rs104895298, rs104895299, rs104895311, rs104895332, rs104895335, rs104895364, rs104895303, rs104895366, rs104895339, rs104895315, rs104895321, rs104895352, rs104895305, rs104895308, rs2136236945, rs2548625552, rs775702104, rs2548623624, rs1885664895, rs2548631951, rs2548642861, rs2548631795, rs104895362, rs2548631938, rs104895300, rs758026399, rs28934897, rs104895317, rs104895295, rs104895304, rs121917790, rs104895319, rs1885418521, rs104895373, rs2548630725, rs1241492890, rs2548625278, rs2548618895, rs2548616797, rs2548631897, rs2548631903, rs1191193699, rs2548642823, rs2548630750, rs2548642794, rs2548625240, rs886048933, rs397514570, rs104895301, rs397514571, rs398122910, rs398122911, rs1566147222, rs767853272, rs11544299, rs776735249, rs1884932883, rs104895322, rs971159663, rs1884864809	RCV001348249 RCV000690628 RCV001038569 RCV001216056 RCV003764774 RCV002514464 RCV005008000 RCV000645101 RCV005003460 RCV002514465 RCV001854464 RCV005222743 RCV001381668 RCV000799676 RCV003764776 RCV001857407 RCV001383593 RCV001381669 RCV002513866 RCV001381670 RCV002514466 RCV000693669 RCV005003461 RCV002513867 RCV001383960 RCV003041169 RCV003062543 RCV003051166 RCV002633630 RCV002846993 RCV002847968 RCV002872701 RCV000201792 RCV003020765 RCV003008474 RCV001215092 RCV005011248 RCV000627780 RCV000688831 RCV001240497 RCV000698175 RCV001219913 RCV000697433 RCV005209620 RCV003782450 RCV003782884 RCV003783599 RCV003783601 RCV003804127 RCV003796932 RCV003800346 RCV003808628 RCV003809196 RCV003801959 RCV003815725 RCV003815273 RCV003810626 RCV003818135 RCV001384473 RCV000032936 RCV003764651 RCV000032940 RCV000074423 RCV000032943 RCV000032944 RCV000032945 RCV000695407 RCV002535041 RCV000804120 RCV002489730 RCV001213473 RCV000823039 RCV001227276 RCV001233803	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs104895298, rs104895316, rs28934897, rs104895317, rs104895304	RCV004815020 RCV001073278 RCV004814886 RCV004814887 RCV004814888	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRALGIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXANTHEMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGD SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERIMMUNOGLOBULINEMIA D	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA CBLB TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline myopathy 5	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEMALINE MYOPATHY 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS 3, MULTIPLE TYPE S	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS OF MIBELLI	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic porokeratosis	Porokeratosis	GENOMICS_ENGLAND_DG	24781643		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31430439		★☆☆☆☆ Found in Text Mining only
Anemia of inadequate production	Anemia	BEFREE	20194276		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	12861380, 16802371, 20814828, 30652926		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	16435210		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17213252, 24411001		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	17213252, 28814775, 30808881	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	7747441	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	30101835	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	BEFREE	9647750		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27716295, 29069827		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27716295, 29069827		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	27716295, 30101835	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27716295, 29069827		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	29345730		★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	17213252, 30418111		★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	CTD_human_DG	10369261, 12477733, 17596604, 18008182, 24073415, 27377765		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	10949735, 11111075, 11313768, 11313769, 11521206, 11583827, 12861380, 1377680, 15059033, 15188372, 16722536, 16802371, 16835861, 17213252, 17804452, 18727492, 18941711, 20179743, 20194276, 20814828, 21399979, 21425920, 22271696, 23168296, 23979089, 24084495, 24656624, 25146332, 25677409, 26420133, 26935981, 28095071, 28359055, 29234874, 29374778, 29451047, 29600537, 30652926, 31013450, 31474985, 9334262		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Depressive Disorder Major	Major depressive disorder	Pubtator	34171401	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	25059119		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	40717084	Associate	★☆☆☆☆ Found in Text Mining only
Disseminated superficial actinic porokeratosis	Disseminated Superficial Actinic Porokeratosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	27716295		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	27716295	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	35387795	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	29624229	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32290231	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	39172581	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	39172581	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25205864	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	CLINVAR_DG	10369261, 10401001, 10417275, 11111075, 11313769, 12563048, 12634869, 15536479, 16435210, 16835861, 19011501, 19786432, 20194276, 21228398, 21425920, 21548022, 22038276, 23692791, 23979089, 24084495, 24177804, 24233262, 24360083, 24470648, 24561416, 25708585, 25866490, 26116953, 26633545, 26977311, 27142780, 27213830, 28095071, 9334262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	UNIPROT_DG	10369261, 10369262, 11313768, 11313769, 15536479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	CTD_human_DG	10369261, 12477733, 17596604, 18008182, 24073415, 27377765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	ORPHANET_DG	10369262, 11313769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	BEFREE	10949735, 11111075, 11325608, 11521206, 12452839, 12861380, 13130485, 15188372, 15657603, 15933578, 16722536, 16835861, 17171314, 18008182, 19011501, 21425920, 21607759, 22038276, 22159817, 23979089, 24656624, 25982894, 27270401, 30418111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	GENOMICS_ENGLAND_DG	16435210, 24084495, 26202976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	20194276		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Disease 25 Autosomal Recessive	Inflammatory bowel disease	Pubtator	34525210	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29069827		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21147110		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	7747441, 8302606		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	7747441, 8302606		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29374778		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33385519	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic aciduria cblB type	Methylmalonic aciduria	CLINVAR_DG	23707710		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	11139196, 13130485, 1377680, 14711867, 15188372, 15457465, 16255052, 17213252, 17596604, 19011501, 20179743, 20814828, 22885443, 24073415, 24360083, 24656624, 27377765, 27899390, 29624229, 31096039, 31474985, 32822427, 34809655, 38636615, 40717084, 9334262	Associate	★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	34525210, 34809655	Inhibit	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Normocytic hypoplastic anemia	Hypoplastic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	35658515	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthralgia	Polyarthralgia	CTD_human_DG	10369261		★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	Pubtator	24551296, 26202976, 31207227	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis	Porokeratosis	BEFREE	24781643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis	Porokeratosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	BEFREE	24781643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	GENOMICS_ENGLAND_DG	24781643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	ORPHANET_DG	26202976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	ORPHANET_DG	22983302, 26202976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic	Porokeratosis	BEFREE	24551296, 24781643, 25059119, 25180256, 26794421, 30597534, 31207227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	Porokeratosis	CLINVAR_DG	10369261, 10401001, 10417275, 11111075, 11313769, 12563048, 12634869, 15536479, 16435210, 16835861, 19011501, 19786432, 20194276, 21425920, 21548022, 23692791, 23979089, 24084495, 24470648, 26116953, 26977311, 27142780, 27213830, 28095071, 9334262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	Porokeratosis	UNIPROT_DG	22983302, 24781643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	Porokeratosis	CTD_human_DG	22983302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	Porokeratosis	GENOMICS_ENGLAND_DG	26202976, 28543715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Disseminated Superficial Actinic, 3	Disseminated Superficial Actinic Porokeratosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Porokeratosis, Linear	Porokeratosis	BEFREE	31207227		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	17213252		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24084495, 28095071		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	34809655	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	27716295		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	27190114, 35387795	Associate	★☆☆☆☆ Found in Text Mining only