Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79947
Gene name	Dehydrodolichyl diphosphate synthase subunit
Gene symbol	DHDDS
Synonyms (NCBI Gene)	CITCPTDEDSMDSHDSRP59hCIT
Chromosome	1
Chromosome location	1p36.11
Summary	The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs147394623	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs754564043	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs764831063	A>G	Pathogenic	Intron variant
rs1229969030	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553121073	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1553121545	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1553122926	G>A	Pathogenic	Coding sequence variant, missense variant
rs1557447255	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570332505	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant

306

Show/Hide all (306)

miRTarBase ID	miRNA	Experiments	Reference
MIRT704247	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT704246	hsa-miR-6089	HITS-CLIP	23313552
MIRT704245	hsa-miR-6804-5p	HITS-CLIP	23313552
MIRT704244	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT704243	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT704242	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT704241	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT704240	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT704239	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT704238	hsa-miR-4710	HITS-CLIP	23313552
MIRT704236	hsa-miR-4316	HITS-CLIP	23313552
MIRT704237	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT704235	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT704233	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT704234	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT704232	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT704231	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT704230	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT704229	hsa-miR-3689c	HITS-CLIP	23313552
MIRT704228	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT704227	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT704226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704225	hsa-miR-3122	HITS-CLIP	23313552
MIRT704224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT704247	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT704246	hsa-miR-6089	HITS-CLIP	23313552
MIRT704245	hsa-miR-6804-5p	HITS-CLIP	23313552
MIRT704244	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT704243	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT704242	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT704241	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT704240	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT704239	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT704238	hsa-miR-4710	HITS-CLIP	23313552
MIRT704236	hsa-miR-4316	HITS-CLIP	23313552
MIRT704237	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT704235	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT704233	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT704234	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT704232	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT704231	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT704230	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT704229	hsa-miR-3689c	HITS-CLIP	23313552
MIRT704228	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT704227	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT704226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT704225	hsa-miR-3122	HITS-CLIP	23313552
MIRT704224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT704223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT704222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT934611	hsa-miR-1236	CLIP-seq
MIRT934612	hsa-miR-125a-5p	CLIP-seq
MIRT934613	hsa-miR-125b	CLIP-seq
MIRT934614	hsa-miR-146a	CLIP-seq
MIRT934615	hsa-miR-146b-5p	CLIP-seq
MIRT934616	hsa-miR-15a	CLIP-seq
MIRT934617	hsa-miR-15b	CLIP-seq
MIRT934618	hsa-miR-16	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT934620	hsa-miR-195	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934624	hsa-miR-3664-3p	CLIP-seq
MIRT934625	hsa-miR-424	CLIP-seq
MIRT934626	hsa-miR-4300	CLIP-seq
MIRT934627	hsa-miR-4319	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934633	hsa-miR-4645-5p	CLIP-seq
MIRT934634	hsa-miR-4662a-5p	CLIP-seq
MIRT934635	hsa-miR-4673	CLIP-seq
MIRT934636	hsa-miR-4680-5p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT934638	hsa-miR-4716-3p	CLIP-seq
MIRT934639	hsa-miR-4723-5p	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT934641	hsa-miR-4732-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT934643	hsa-miR-4778-5p	CLIP-seq
MIRT934644	hsa-miR-497	CLIP-seq
MIRT934645	hsa-miR-670	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934647	hsa-miR-765	CLIP-seq
MIRT934648	hsa-miR-920	CLIP-seq
MIRT934649	hsa-miR-922	CLIP-seq
MIRT934650	hsa-miR-1207-5p	CLIP-seq
MIRT934651	hsa-miR-1231	CLIP-seq
MIRT934652	hsa-miR-1273f	CLIP-seq
MIRT934653	hsa-miR-1278	CLIP-seq
MIRT934654	hsa-miR-129-3p	CLIP-seq
MIRT934655	hsa-miR-1301	CLIP-seq
MIRT934656	hsa-miR-143	CLIP-seq
MIRT934657	hsa-miR-147	CLIP-seq
MIRT934658	hsa-miR-187	CLIP-seq
MIRT934659	hsa-miR-2355-5p	CLIP-seq
MIRT934660	hsa-miR-24	CLIP-seq
MIRT934661	hsa-miR-3124-3p	CLIP-seq
MIRT934662	hsa-miR-3128	CLIP-seq
MIRT934663	hsa-miR-3132	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT934664	hsa-miR-3183	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT934665	hsa-miR-3616-3p	CLIP-seq
MIRT934666	hsa-miR-3622b-5p	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934667	hsa-miR-3692	CLIP-seq
MIRT934668	hsa-miR-3911	CLIP-seq
MIRT934669	hsa-miR-4258	CLIP-seq
MIRT934670	hsa-miR-4276	CLIP-seq
MIRT934671	hsa-miR-4283	CLIP-seq
MIRT934672	hsa-miR-4284	CLIP-seq
MIRT934673	hsa-miR-4318	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT934674	hsa-miR-4436a	CLIP-seq
MIRT934675	hsa-miR-4436b-3p	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934676	hsa-miR-4451	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934677	hsa-miR-4486	CLIP-seq
MIRT934678	hsa-miR-450b-5p	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934679	hsa-miR-4649-5p	CLIP-seq
MIRT934680	hsa-miR-4659a-5p	CLIP-seq
MIRT934681	hsa-miR-4659b-5p	CLIP-seq
MIRT934682	hsa-miR-4693-5p	CLIP-seq
MIRT934683	hsa-miR-4708-5p	CLIP-seq
MIRT934684	hsa-miR-4720-5p	CLIP-seq
MIRT934685	hsa-miR-4721	CLIP-seq
MIRT934686	hsa-miR-4723-3p	CLIP-seq
MIRT934687	hsa-miR-4731-3p	CLIP-seq
MIRT934688	hsa-miR-4731-5p	CLIP-seq
MIRT934689	hsa-miR-4749-3p	CLIP-seq
MIRT934690	hsa-miR-4751	CLIP-seq
MIRT934691	hsa-miR-4763-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT934692	hsa-miR-4770	CLIP-seq
MIRT934693	hsa-miR-4773	CLIP-seq
MIRT934694	hsa-miR-4776-3p	CLIP-seq
MIRT934695	hsa-miR-4778-3p	CLIP-seq
MIRT934696	hsa-miR-4786-5p	CLIP-seq
MIRT934697	hsa-miR-4792	CLIP-seq
MIRT934698	hsa-miR-4799-3p	CLIP-seq
MIRT934699	hsa-miR-4801	CLIP-seq
MIRT934700	hsa-miR-5047	CLIP-seq
MIRT934701	hsa-miR-507	CLIP-seq
MIRT934702	hsa-miR-513c	CLIP-seq
MIRT934703	hsa-miR-514b-5p	CLIP-seq
MIRT934704	hsa-miR-541	CLIP-seq
MIRT934705	hsa-miR-557	CLIP-seq
MIRT934706	hsa-miR-644	CLIP-seq
MIRT934707	hsa-miR-654-5p	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT934709	hsa-miR-892a	CLIP-seq
MIRT1976712	hsa-miR-10a	CLIP-seq
MIRT1976713	hsa-miR-10b	CLIP-seq
MIRT1976714	hsa-miR-124	CLIP-seq
MIRT934652	hsa-miR-1273f	CLIP-seq
MIRT1976715	hsa-miR-2467-3p	CLIP-seq
MIRT1976716	hsa-miR-4419a	CLIP-seq
MIRT1976717	hsa-miR-4510	CLIP-seq
MIRT1976718	hsa-miR-500a	CLIP-seq
MIRT1976719	hsa-miR-506	CLIP-seq
MIRT1976720	hsa-miR-548an	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT2212024	hsa-miR-1197	CLIP-seq
MIRT1976714	hsa-miR-124	CLIP-seq
MIRT2212025	hsa-miR-1321	CLIP-seq
MIRT2212026	hsa-miR-185	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT1976715	hsa-miR-2467-3p	CLIP-seq
MIRT934663	hsa-miR-3132	CLIP-seq
MIRT2212027	hsa-miR-3153	CLIP-seq
MIRT2212028	hsa-miR-3190	CLIP-seq
MIRT2212029	hsa-miR-3202	CLIP-seq
MIRT2212030	hsa-miR-3662	CLIP-seq
MIRT2212031	hsa-miR-3927	CLIP-seq
MIRT2212032	hsa-miR-4306	CLIP-seq
MIRT1976716	hsa-miR-4419a	CLIP-seq
MIRT934676	hsa-miR-4451	CLIP-seq
MIRT2212033	hsa-miR-4475	CLIP-seq
MIRT1976717	hsa-miR-4510	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT2212034	hsa-miR-4533	CLIP-seq
MIRT2212035	hsa-miR-4644	CLIP-seq
MIRT2212036	hsa-miR-4661-5p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT2212037	hsa-miR-4699-3p	CLIP-seq
MIRT934638	hsa-miR-4716-3p	CLIP-seq
MIRT934639	hsa-miR-4723-5p	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT2212038	hsa-miR-4732-5p	CLIP-seq
MIRT2212039	hsa-miR-4739	CLIP-seq
MIRT2212040	hsa-miR-4756-5p	CLIP-seq
MIRT2212041	hsa-miR-4762-5p	CLIP-seq
MIRT1976718	hsa-miR-500a	CLIP-seq
MIRT1976719	hsa-miR-506	CLIP-seq
MIRT934704	hsa-miR-541	CLIP-seq
MIRT1976720	hsa-miR-548an	CLIP-seq
MIRT2212042	hsa-miR-605	CLIP-seq
MIRT934707	hsa-miR-654-5p	CLIP-seq
MIRT934649	hsa-miR-922	CLIP-seq
MIRT934661	hsa-miR-3124-3p	CLIP-seq
MIRT934667	hsa-miR-3692	CLIP-seq
MIRT934695	hsa-miR-4778-3p	CLIP-seq
MIRT2465181	hsa-miR-1252	CLIP-seq
MIRT2465182	hsa-miR-3185	CLIP-seq
MIRT2465183	hsa-miR-4694-3p	CLIP-seq
MIRT2515788	hsa-miR-1282	CLIP-seq
MIRT2515789	hsa-miR-135a	CLIP-seq
MIRT2515790	hsa-miR-135b	CLIP-seq
MIRT2515791	hsa-miR-1468	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT934659	hsa-miR-2355-5p	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT2515792	hsa-miR-3176	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT2515793	hsa-miR-3591-3p	CLIP-seq
MIRT2515794	hsa-miR-3620	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934624	hsa-miR-3664-3p	CLIP-seq
MIRT2515795	hsa-miR-3922-3p	CLIP-seq
MIRT934669	hsa-miR-4258	CLIP-seq
MIRT934671	hsa-miR-4283	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT2515796	hsa-miR-4435	CLIP-seq
MIRT934675	hsa-miR-4436b-3p	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934633	hsa-miR-4645-5p	CLIP-seq
MIRT934635	hsa-miR-4673	CLIP-seq
MIRT2515797	hsa-miR-4690-3p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT934689	hsa-miR-4749-3p	CLIP-seq
MIRT2515798	hsa-miR-4760-3p	CLIP-seq
MIRT2515799	hsa-miR-4761-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT2515800	hsa-miR-490-3p	CLIP-seq
MIRT2515801	hsa-miR-5096	CLIP-seq
MIRT2515802	hsa-miR-545	CLIP-seq
MIRT2515803	hsa-miR-548m	CLIP-seq
MIRT2515804	hsa-miR-574-3p	CLIP-seq
MIRT2515805	hsa-miR-637	CLIP-seq
MIRT2515806	hsa-miR-661	CLIP-seq
MIRT2515807	hsa-miR-664	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT2515808	hsa-miR-944	CLIP-seq
MIRT934652	hsa-miR-1273f	CLIP-seq
MIRT2515788	hsa-miR-1282	CLIP-seq
MIRT2515789	hsa-miR-135a	CLIP-seq
MIRT2515790	hsa-miR-135b	CLIP-seq
MIRT934656	hsa-miR-143	CLIP-seq
MIRT2515791	hsa-miR-1468	CLIP-seq
MIRT934619	hsa-miR-1915	CLIP-seq
MIRT934659	hsa-miR-2355-5p	CLIP-seq
MIRT934621	hsa-miR-3158-3p	CLIP-seq
MIRT2515792	hsa-miR-3176	CLIP-seq
MIRT934622	hsa-miR-3194-3p	CLIP-seq
MIRT2515793	hsa-miR-3591-3p	CLIP-seq
MIRT2679252	hsa-miR-361-5p	CLIP-seq
MIRT2515794	hsa-miR-3620	CLIP-seq
MIRT934623	hsa-miR-3651	CLIP-seq
MIRT934624	hsa-miR-3664-3p	CLIP-seq
MIRT2515795	hsa-miR-3922-3p	CLIP-seq
MIRT934669	hsa-miR-4258	CLIP-seq
MIRT934671	hsa-miR-4283	CLIP-seq
MIRT934628	hsa-miR-4433	CLIP-seq
MIRT2515796	hsa-miR-4435	CLIP-seq
MIRT934675	hsa-miR-4436b-3p	CLIP-seq
MIRT934629	hsa-miR-4446-3p	CLIP-seq
MIRT934630	hsa-miR-4459	CLIP-seq
MIRT934631	hsa-miR-4514	CLIP-seq
MIRT934632	hsa-miR-4528	CLIP-seq
MIRT934633	hsa-miR-4645-5p	CLIP-seq
MIRT934635	hsa-miR-4673	CLIP-seq
MIRT2679253	hsa-miR-4687-3p	CLIP-seq
MIRT2515797	hsa-miR-4690-3p	CLIP-seq
MIRT934637	hsa-miR-4692	CLIP-seq
MIRT934683	hsa-miR-4708-5p	CLIP-seq
MIRT934640	hsa-miR-4726-3p	CLIP-seq
MIRT934689	hsa-miR-4749-3p	CLIP-seq
MIRT2515798	hsa-miR-4760-3p	CLIP-seq
MIRT2515799	hsa-miR-4761-3p	CLIP-seq
MIRT934642	hsa-miR-4768-3p	CLIP-seq
MIRT934692	hsa-miR-4770	CLIP-seq
MIRT2515800	hsa-miR-490-3p	CLIP-seq
MIRT2515801	hsa-miR-5096	CLIP-seq
MIRT2515802	hsa-miR-545	CLIP-seq
MIRT2515803	hsa-miR-548m	CLIP-seq
MIRT2515804	hsa-miR-574-3p	CLIP-seq
MIRT2515805	hsa-miR-637	CLIP-seq
MIRT2515806	hsa-miR-661	CLIP-seq
MIRT2515807	hsa-miR-664	CLIP-seq
MIRT934646	hsa-miR-760	CLIP-seq
MIRT934708	hsa-miR-766	CLIP-seq
MIRT2515808	hsa-miR-944	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004659	Function	Prenyltransferase activity	IDA	25066056
GO:0005515	Function	Protein binding	IPI	15110773, 32817466, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	14652022
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	32817466
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006489	Process	Dolichyl diphosphate biosynthetic process	IDA	28842490, 32817466, 33077723
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016094	Process	Polyprenol biosynthetic process	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0016765	Function	Transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA
GO:0043048	Process	Dolichyl monophosphate biosynthetic process	IDA	28842490
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IBA
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IDA	28842490
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IDA	33077723
GO:0045547	Function	Ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1904423	Component	Dehydrodolichyl diphosphate synthase complex	IBA
GO:1904423	Component	Dehydrodolichyl diphosphate synthase complex	IDA	28842490
GO:1904423	Component	Dehydrodolichyl diphosphate synthase complex	IPI	32817466

MIM	HGNC	e!Ensembl
608172	20603	ENSG00000117682

Q86SQ9

Protein name

Dehydrodolichyl diphosphate synthase complex subunit DHDDS (EC 2.5.1.87) (Cis-isoprenyltransferase) (CIT) (Cis-IPTase) (Cis-prenyltransferase subunit hCIT) (Epididymis tissue protein Li 189m)

Protein function

With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery (PubMed:25066056, PubMed:28842490, PubMed:32817466, PubMed:33077723). Both subunits cont

PDB

6W2L , 6Z1N , 7PAX , 7PAY , 7PB0 , 7PB1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01255	Prenyltransf	32 → 255	Putative undecaprenyl diphosphate synthase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:21295282). Expressed at high levels in testis and kidney (PubMed:20736409). Expressed in epididymis (at protein level) (PubMed:20736409). {ECO:0000269|PubMed:20736409, ECO:0000269|PubMed:21295282}.

Sequence

MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAE
TLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRV
LGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDP
SDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNL
FEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLH
KLSARREERVQGFLQALELKRADWLARLGTASA

Sequence length

333

Interactions

View interactions

	KEGG		Reactome
	Terpenoid backbone biosynthesis		Synthesis of Dolichyl-phosphate Defective DHDDS causes retinitis pigmentosa 59

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of glycosylation, type Ibb	Pathogenic; Likely pathogenic	rs1553121545, rs764831063	RCV000578125 RCV000578121	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental delay and seizures with or without movement abnormalities	Likely pathogenic; Pathogenic	rs1248671884, rs1553121072, rs2524708025, rs2524707695, rs147394623, rs1553121073, rs1553122926, rs1557447255, rs1570332505	RCV002499773 RCV003333167 RCV003448533 RCV005030035 RCV000762902 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DHDDS-related disorder	Likely pathogenic	rs2524687222	RCV003394394	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic	rs2524708485	RCV003890544	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs2124489724, rs147394623	RCV001724859 RCV000778978	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 59	Likely pathogenic; Pathogenic	rs1248671884, rs2124425894, rs1272594778, rs1553121072, rs2124489724, rs2124433466, rs2124501559, rs922956992, rs2524687283, rs2524687386, rs2075282065, rs2075181080, rs2524708025, rs1298424547, rs2524685601 View all (10 more)	RCV001377031 RCV001390488 RCV001381692 RCV001866177 RCV002227538 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (268)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	16437149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	23382200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9766666, 9858913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21350582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24195516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22402322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28991661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	18480965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	30226290, 7792330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	21593415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28899958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28899958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28533667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35027076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	16356833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34275143, 34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28533667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22564179, 28539944, 28754432, 29269187, 30338900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30027417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG	27453578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	27453578, 27453579, 34100550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	LHGDN	15983625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24156021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	BEFREE	28629634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	28809830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24167321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	BEFREE	21664124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain Stem Neoplasms	BEFREE	29170909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22084033, 25368234, 29642175, 30565087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27895316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	12478878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	BEFREE	12478878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31011256, 38102321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24156021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1332703, 15517893, 16713012, 24457609, 9045964, 9766666, 9858913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32185224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20704576, 22677940, 23542236, 30713783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 1A deficiency	Carnitine Palmitoyl Transferase Deficiency	BEFREE	15110323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyl transferase deficiency	BEFREE	10398218, 24602495, 8048703		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	29712517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28692718, 29525616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22402322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	27895316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28214411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10811101, 11177741, 12124325, 12237777, 15729367, 15756257, 17195906, 17465193, 17725105, 18506996, 18927307, 21210765, 22862168, 23422270, 24173769 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	25510341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10732766, 11299781, 12006511, 12209584, 14648715, 15297419, 16894565, 17636009, 18941461, 19622774, 19695243, 19956881, 21787266, 22898888, 23605141 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10811101, 14648715, 29963241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	38256083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	22240719, 28484880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	37356182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28551443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corticobasal degeneration	Corticobasal Degeneration	BEFREE	28389938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30128744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystocele	Cystocele	BEFREE	28396182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	27917538, 28985260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27917538, 27940650, 28382589, 28985260, 29560382, 31035933, 31062638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	12478878, 17289353, 20859246, 29290685, 30371826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	30371594		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	Developmental delay	GENOMICS_ENGLAND_DG	27343064, 29100083		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	Developmental delay	UNIPROT_DG	29100083		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	Developmental delay	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental Disabilities	Developmental disability	Pubtator	34275143, 34382076, 37356182, 40003936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20654738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30077530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	31286256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29801899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSTONIA 12	Dystonia	BEFREE	18675996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	29571867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	28131729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30037491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	37356182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34382076, 37356182, 40003936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Myoclonic Benign Adult Familial Type 1	Benign adult familial myoclonic epilepsy	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30713783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29172590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30959487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28841694, 29486515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30172358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	17445541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29728749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fumarase deficiency	Fumarase Deficiency	BEFREE	2824920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	18349289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	15197779, 28754432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30496882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27680966, 30496882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16061668, 17942911, 18480965, 9635592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31696289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	31299591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	20049534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	31526260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31650561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31220173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34275143, 37356182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	27783343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15956246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	15930350, 18480965, 19349540, 20940716, 23303296, 25432775, 26710796, 31105026, 31236124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27480759, 27940650, 27941373, 28361209, 28389938, 28477707, 29406901, 29560382, 30980099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28214411, 30663574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26096332, 28214411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	31720699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22811604, 30663574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30983992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20859246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22084033, 25368234, 29642175, 30565087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30037491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22811604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1332703, 15517893, 16713012, 24457609, 25544747, 9045964, 9766666, 9858913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20704576, 22677940, 23542236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27659534, 31479691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12907654, 17431115, 23646189, 24627085, 28919181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17549342, 21965746, 23303296, 23881212, 24359226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24156021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11431344, 15132777, 17195906, 17397102, 18335219, 19349540, 21617725, 22610355, 23504048, 24424522, 24815493, 26431797, 29562843, 29651916, 30154384 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	15132777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10811101, 11177741, 12124325, 12237777, 15729367, 15756257, 17195906, 17465193, 17725105, 18506996, 18714167, 18927307, 21210765, 22862168, 23422270 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	20704575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21869821, 22402322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	12478878, 17289353, 20859246, 29290685, 30371826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33800494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17445541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27453579, 29343805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28468989, 29343805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	27453578		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	27453578, 27453579, 27503289, 27519304		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	27453578		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31035933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	2824920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27998762, 30940634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30940634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12802501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15956246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	38256083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10732766, 10811101, 12124325, 12237777, 12237778, 12537977, 12684128, 12907654, 12939466, 12943825, 14583489, 14648715, 14749475, 15197779, 15897249 View all (53 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10933967, 11431345, 16501609, 18384433, 23480903, 28345025, 29514842, 29846250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34382076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28389938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	31533797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	15930350, 18480965, 19349540, 20940716, 23303296, 25432775, 26710796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31307925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10738246, 10770640, 11844605, 14586211, 15474668, 18685565, 20198621, 8070019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	7115010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	30564153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30036771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12939466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23542236		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20704576, 22677940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23542236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27659534, 31479691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	29765522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	1315526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15785866, 19081858, 27856628, 28320195, 28339403, 28389938, 28574876, 28743197, 28781201, 28841694, 28848099, 28899958, 29063467, 29232183, 29406901 View all (14 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	16380622, 20702130, 22030322, 23412372, 24076137, 25182701, 27856628, 28259768, 28382589, 28477690, 28574876, 29406901, 29629914, 29783976, 29804474 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31312846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	31526260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30077530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	29728749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	31306206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	27931783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	15978509, 29433608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27917538, 27940650, 28382589, 28985260, 29560382, 31035933, 31062638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	27856628, 27922865, 29406901, 29728749, 31037416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12907654, 17431115, 23646189, 28919181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22761715, 37801613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21775978, 7115010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	2824920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	15510606, 30630082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12684128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12684128, 28551443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	28130426, 38256083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	21295282, 24078709, 28809830		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	21295282, 21295283, 24078709, 25255364, 26261414, 29276052		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	24078709, 25255364, 28809830, 34382076, 37356182	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 59	Retinitis Pigmentosa	CLINVAR_DG	21295282, 21295283, 22110072, 24664694, 25066056, 27343064, 28130426		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 59	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	21295283, 27343064, 29100083		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 59	Retinitis Pigmentosa	UNIPROT_DG	21295283		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 59	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10933967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rippling muscle disease	Rippling Muscle Disease	BEFREE	30699992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma, Epithelioid	Sarcoma	BEFREE	30172358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	22888040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11087021, 11424979, 12478878, 17630256, 17631280, 20084519, 27917869, 29172590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	16003560, 17725105, 18506996, 19770637, 20196838, 20585341, 20940716, 21474966, 21892003, 22555197, 25427841, 28213683, 28393405, 28656305, 28711984, 9466980 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34275143, 37356182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19509138, 30229683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Anhedonia	Social Anhedonia	BEFREE	11120438		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	16532453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	16699769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29859787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15132777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	34275143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	17445541, 19854160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17549342, 21965746, 23303296, 23881212, 24359226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33499898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	28316073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroglossal Cyst	Thyroglossal Cyst	BEFREE	31644997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	15197779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	34275143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	BEFREE	31306206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	15197779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	20425236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29642175, 30362704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	15197779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31679791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32705161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	27565125, 30381578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	16699769		★★★★★ ★☆☆☆☆ Found in Text Mining only

DHDDS (dehydrodolichyl diphosphate synthase subunit)