HPRT1 (hypoxanthine phosphoribosyltransferase 1)

Gene

• Entrez ID: 3251
• Gene name: Hypoxanthine phosphoribosyltransferase 1
• Gene symbol: HPRT1
• Synonyms: HGPRT, HPRT
• Chromosome: X
• Chromosome location: Xq26.2-q26.3
• Summary: The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme pla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852477	T>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852478	A>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852479	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852480	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852481	C>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852482	C>A,T	Other, pathogenic	Coding sequence variant, stop gained, missense variant
rs137852483	T>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852484	G>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852485	C>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852486	T>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852487	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852488	G>C	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852489	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs137852490	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852491	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852492	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852493	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852494	C>G,T	Other, pathogenic	Coding sequence variant, stop gained, missense variant
rs137852495	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852496	T>A	Pathogenic	Coding sequence variant, missense variant
rs137852497	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs137852498	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852499	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852500	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852501	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852502	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852503	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852504	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852505	T>G	Other, pathogenic	Coding sequence variant, stop gained
rs137852506	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606863	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs369065223	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs387906428	AATACAAAGCCTAAGATGAGA>-	Other, pathogenic	Inframe indel, 3 prime UTR variant, terminator codon variant, stop lost
rs387906725	G>A	Pathogenic	Missense variant, coding sequence variant
rs398123240	G>A	Pathogenic	Splice donor variant
rs398123241	G>A	Pathogenic	Splice acceptor variant
rs672601245	ATA>TTT	Pathogenic	Splice acceptor variant, intron variant
rs727503964	T>G	Pathogenic	Splice donor variant
rs786200980	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886041288	GTGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041298	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041930	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691486	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1135401801	G>T	Pathogenic	Missense variant, coding sequence variant
rs1556026984	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556030169	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556030344	AAATACAAAGCCTAAGATGAGA>-	Pathogenic	Terminator codon variant, 3 prime UTR variant, frameshift variant
rs1569354918	A>T	Pathogenic	Splice acceptor variant
rs1569359021	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569360089	G>A	Pathogenic	Intron variant
rs1569360139	G>A	Pathogenic	Intron variant
rs1602741150	T>G	Pathogenic	Coding sequence variant, missense variant
rs1602745376	A>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016412	hsa-miR-193b-3p	Microarray	20304954
MIRT025379	hsa-miR-34a-5p	qRT-PCR	19696787
MIRT048012	hsa-miR-30c-5p	CLASH	23622248
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT557011	hsa-miR-4282	PAR-CLIP	21572407
MIRT557010	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT557009	hsa-miR-548ab	PAR-CLIP	21572407
MIRT557008	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT557007	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT557006	hsa-miR-548ak	PAR-CLIP	21572407
MIRT557005	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT557004	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT557003	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT557002	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT557001	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT557000	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT556999	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT556998	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT556997	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT556996	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT556995	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT556994	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT556993	hsa-miR-548i	PAR-CLIP	21572407
MIRT556992	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT556991	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT556990	hsa-miR-548w	PAR-CLIP	21572407
MIRT556989	hsa-miR-548y	PAR-CLIP	21572407
MIRT556988	hsa-miR-559	PAR-CLIP	21572407
MIRT108869	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT108863	hsa-miR-548k	PAR-CLIP	21572407
MIRT108872	hsa-miR-8054	PAR-CLIP	21572407
MIRT556987	hsa-miR-548l	PAR-CLIP	21572407
MIRT108861	hsa-miR-577	PAR-CLIP	21572407
MIRT108868	hsa-miR-4744	PAR-CLIP	21572407
MIRT108866	hsa-miR-4509	PAR-CLIP	21572407
MIRT556986	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT556985	hsa-miR-4263	PAR-CLIP	21572407
MIRT556984	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT108873	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT108874	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT108886	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT108889	hsa-miR-3666	PAR-CLIP	20371350
MIRT108879	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT108880	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT108877	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT108887	hsa-miR-4295	PAR-CLIP	20371350
MIRT108885	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT571983	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571982	hsa-miR-107	PAR-CLIP	20371350
MIRT108890	hsa-miR-4671-3p	PAR-CLIP	20371350
MIRT571981	hsa-miR-651-5p	PAR-CLIP	20371350
MIRT557011	hsa-miR-4282	PAR-CLIP	21572407
MIRT557010	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT557009	hsa-miR-548ab	PAR-CLIP	21572407
MIRT557008	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT557007	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT557006	hsa-miR-548ak	PAR-CLIP	21572407
MIRT557005	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT557004	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT557003	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT557002	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT557001	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT557000	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT556999	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT556998	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT556997	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT556996	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT556995	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT556994	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT556993	hsa-miR-548i	PAR-CLIP	21572407
MIRT556992	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT556991	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT556990	hsa-miR-548w	PAR-CLIP	21572407
MIRT556989	hsa-miR-548y	PAR-CLIP	21572407
MIRT556988	hsa-miR-559	PAR-CLIP	21572407
MIRT108869	hsa-miR-548av-5p	PAR-CLIP	21572407
MIRT108863	hsa-miR-548k	PAR-CLIP	21572407
MIRT108872	hsa-miR-8054	PAR-CLIP	21572407
MIRT556987	hsa-miR-548l	PAR-CLIP	21572407
MIRT108861	hsa-miR-577	PAR-CLIP	21572407
MIRT108868	hsa-miR-4744	PAR-CLIP	21572407
MIRT108866	hsa-miR-4509	PAR-CLIP	21572407
MIRT556986	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT556985	hsa-miR-4263	PAR-CLIP	21572407
MIRT556984	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT755876	hsa-miR-125b-5p	Western blotting, qRT-PCR, in vitro cullelar assays	37810145
MIRT1054165	hsa-miR-103a	CLIP-seq
MIRT1054166	hsa-miR-130a	CLIP-seq
MIRT1054167	hsa-miR-130b	CLIP-seq
MIRT1054168	hsa-miR-1323	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT1054171	hsa-miR-19a	CLIP-seq
MIRT1054172	hsa-miR-19b	CLIP-seq
MIRT1054173	hsa-miR-301a	CLIP-seq
MIRT1054174	hsa-miR-301b	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT1054178	hsa-miR-3545-3p	CLIP-seq
MIRT1054179	hsa-miR-4436a	CLIP-seq
MIRT1054180	hsa-miR-4471	CLIP-seq
MIRT1054181	hsa-miR-454	CLIP-seq
MIRT1054182	hsa-miR-4680-5p	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT1054184	hsa-miR-4724-5p	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054188	hsa-miR-4796-5p	CLIP-seq
MIRT1054189	hsa-miR-494	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT1054191	hsa-miR-511	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054194	hsa-miR-548o	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054197	hsa-miR-626	CLIP-seq
MIRT1054198	hsa-miR-651	CLIP-seq
MIRT1054199	hsa-miR-665	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012287	hsa-miR-1273g	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT2012288	hsa-miR-299-5p	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT2012289	hsa-miR-3124-3p	CLIP-seq
MIRT2012290	hsa-miR-3136-5p	CLIP-seq
MIRT2012291	hsa-miR-3148	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT2012292	hsa-miR-323-3p	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2012294	hsa-miR-34b	CLIP-seq
MIRT2012295	hsa-miR-3978	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT2012297	hsa-miR-4439	CLIP-seq
MIRT2012298	hsa-miR-4473	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT2012299	hsa-miR-4705	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT2012300	hsa-miR-505	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT2012301	hsa-miR-512-3p	CLIP-seq
MIRT2012302	hsa-miR-520f	CLIP-seq
MIRT2012303	hsa-miR-550b	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT2012304	hsa-miR-600	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012305	hsa-miR-943	CLIP-seq
MIRT1054165	hsa-miR-103a	CLIP-seq
MIRT2012287	hsa-miR-1273g	CLIP-seq
MIRT1054166	hsa-miR-130a	CLIP-seq
MIRT1054167	hsa-miR-130b	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT1054171	hsa-miR-19a	CLIP-seq
MIRT1054172	hsa-miR-19b	CLIP-seq
MIRT2012288	hsa-miR-299-5p	CLIP-seq
MIRT1054173	hsa-miR-301a	CLIP-seq
MIRT1054174	hsa-miR-301b	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT2012291	hsa-miR-3148	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT2012292	hsa-miR-323-3p	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2244652	hsa-miR-3658	CLIP-seq
MIRT2012295	hsa-miR-3978	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT1054180	hsa-miR-4471	CLIP-seq
MIRT2012298	hsa-miR-4473	CLIP-seq
MIRT2244653	hsa-miR-4490	CLIP-seq
MIRT1054181	hsa-miR-454	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT1054184	hsa-miR-4724-5p	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054188	hsa-miR-4796-5p	CLIP-seq
MIRT2012300	hsa-miR-505	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT2012301	hsa-miR-512-3p	CLIP-seq
MIRT2012302	hsa-miR-520f	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054198	hsa-miR-651	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT1054168	hsa-miR-1323	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT2547516	hsa-miR-3074-5p	CLIP-seq
MIRT1054175	hsa-miR-3117-3p	CLIP-seq
MIRT2012289	hsa-miR-3124-3p	CLIP-seq
MIRT2012290	hsa-miR-3136-5p	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT2547517	hsa-miR-3163	CLIP-seq
MIRT1054177	hsa-miR-3169	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2012294	hsa-miR-34b	CLIP-seq
MIRT2547518	hsa-miR-3647-3p	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT2547519	hsa-miR-4420	CLIP-seq
MIRT1054179	hsa-miR-4436a	CLIP-seq
MIRT2012297	hsa-miR-4439	CLIP-seq
MIRT2244653	hsa-miR-4490	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT2012299	hsa-miR-4705	CLIP-seq
MIRT1054185	hsa-miR-4759	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054189	hsa-miR-494	CLIP-seq
MIRT1054190	hsa-miR-508-5p	CLIP-seq
MIRT1054191	hsa-miR-511	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054194	hsa-miR-548o	CLIP-seq
MIRT2012303	hsa-miR-550b	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054197	hsa-miR-626	CLIP-seq
MIRT1054199	hsa-miR-665	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012305	hsa-miR-943	CLIP-seq
MIRT1054168	hsa-miR-1323	CLIP-seq
MIRT1054169	hsa-miR-193a-3p	CLIP-seq
MIRT1054170	hsa-miR-193b	CLIP-seq
MIRT2012290	hsa-miR-3136-5p	CLIP-seq
MIRT1054176	hsa-miR-3161	CLIP-seq
MIRT2547517	hsa-miR-3163	CLIP-seq
MIRT2012293	hsa-miR-338-5p	CLIP-seq
MIRT2012294	hsa-miR-34b	CLIP-seq
MIRT2547518	hsa-miR-3647-3p	CLIP-seq
MIRT2012296	hsa-miR-4272	CLIP-seq
MIRT1054179	hsa-miR-4436a	CLIP-seq
MIRT2012297	hsa-miR-4439	CLIP-seq
MIRT1054183	hsa-miR-4701-5p	CLIP-seq
MIRT2012299	hsa-miR-4705	CLIP-seq
MIRT1054186	hsa-miR-4773	CLIP-seq
MIRT1054187	hsa-miR-4775	CLIP-seq
MIRT1054189	hsa-miR-494	CLIP-seq
MIRT1054191	hsa-miR-511	CLIP-seq
MIRT1054192	hsa-miR-548h	CLIP-seq
MIRT1054193	hsa-miR-548j	CLIP-seq
MIRT1054194	hsa-miR-548o	CLIP-seq
MIRT2012303	hsa-miR-550b	CLIP-seq
MIRT1054195	hsa-miR-588	CLIP-seq
MIRT1054196	hsa-miR-590-3p	CLIP-seq
MIRT1054197	hsa-miR-626	CLIP-seq
MIRT1054199	hsa-miR-665	CLIP-seq
MIRT1054200	hsa-miR-892b	CLIP-seq
MIRT2012305	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IBA	21873635
GO:0000287	Function	Magnesium ion binding	IDA	10360366
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IBA	21873635
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IDA	6300847, 9521733, 19527031
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 25910212, 31515488, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IDA	6300847
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IMP	9824441
GO:0006166	Process	Purine ribonucleoside salvage	IMP	9824441
GO:0006168	Process	Adenine salvage	IBA	21873635
GO:0006178	Process	Guanine salvage	IBA	21873635
GO:0006178	Process	Guanine salvage	IDA	19527031
GO:0007625	Process	Grooming behavior	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0032263	Process	GMP salvage	IBA	21873635
GO:0032264	Process	IMP salvage	IBA	21873635
GO:0032264	Process	IMP salvage	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	8044844, 25416956, 25502805, 31515488, 32296183
GO:0043101	Process	Purine-containing compound salvage	TAS
GO:0043103	Process	Hypoxanthine salvage	IDA	19527031
GO:0045964	Process	Positive regulation of dopamine metabolic process	IMP	8643611
GO:0046038	Process	GMP catabolic process	IDA	19527031
GO:0046040	Process	IMP metabolic process	IDA	19527031
GO:0046100	Process	Hypoxanthine metabolic process	IBA	21873635
GO:0046100	Process	Hypoxanthine metabolic process	IMP	9824441
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0051289	Process	Protein homotetramerization	IPI	15990111
GO:0052657	Function	Guanine phosphoribosyltransferase activity	IDA	19527031
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 308000
• HGNC: 5157
• e!Ensembl: ENSG00000165704

Protein

• UniProt ID: P00492
• Protein name: Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (HGPRTase) (EC 2.4.2.8)
• Protein function: Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through
• PDB: 1BZY, 1D6N, 1HMP, 1Z7G, 2VFA, 3GEP, 3GGC, 3GGJ, 4IJQ, 4KN6, 4RAB, 4RAC, 4RAD, 4RAN, 4RAO, 4RAQ, 5BRN, 5BSK, 5HIA, 5W8V, 6BNJ, 7SAN, 8TPY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00156	Pribosyltran	36 → 196	Phosphoribosyl transferase domain	Domain

• Sequence:

  MATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGH
  HIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGD
  DLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVG
  FEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA

• Sequence length: 218

Pathways

KEGG:

Purine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism

Reactome:

Purine salvage

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Anemia, Megaloblastic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	rs137852478, rs137852482, rs137852484, rs137852498, rs137852506, rs387906725
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Lesch-nyhan syndrome	Lesch-Nyhan Syndrome, Lesch-Nyhan Syndrome, Neurologic Variant	rs2077615673, rs267606863, rs137852487, rs137852488, rs137852489, rs137852490, rs137852491, rs137852492, rs1569360139, rs672601245, rs1569360089, rs1569354918, rs137852493, rs137852494, rs137852496, rs137852497, rs2077673385, rs2077615719, rs786200980, rs1135401801, rs1602741150	2347587, 9452051, 2572141, 3029599, 2928313, 2358296, 7627191, 3384338, 3265398, 8664901, 9288634, 15571223, 2246854, 28045594, 2071157, 24940672, 17027311, 24206569, 28495876, 20544509, 11018746, 27604308, 20176575, 2323782, 1934271, 6853716, 27079129, 2910902, 22132984
Mental retardation	Mild Mental Retardation, Moderate intellectual disability, 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
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease name	Disease term	dbSNP ID	References
Choreoathetosis	Choreoathetosis
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Dysmorphic features	Dysmorphic features		25612837, 23975452, 25503620
Dysphagia	Deglutition Disorders
Gout	Gout, Gout, HPRT-Related		10657589, 26073243, 23348497, 2909537, 3358423, 27604308, 24940672, 22132984, 6572373, 6853490, 17027311, 3198771, 2347587, 6706936, 20544509, 15571223, 28045594, 7987318, 1934271, 2896620, 9288634, 11018746
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Hyperuricemia	Hyperuricemia		23348497
Motor delay	Clumsiness - motor delay
Movement disorders	Movement Disorders		23975452, 25612837, 25503620
Nephrolithiasis	Nephrolithiasis
Podagra	Podagra
Testicular atrophy	Atrophy of testis
Uric acid renal calculus	Uric acid renal calculus
Uric acid urolithiasis	Uric acid urolithiasis