HPRT1 (hypoxanthine phosphoribosyltransferase 1)

Gene

• Entrez ID: 3251
• Gene name: Hypoxanthine phosphoribosyltransferase 1
• Gene symbol: HPRT1
• Synonyms (NCBI Gene): 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
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
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IDA	6300847, 9521733, 19527031
GO:0004422	Function	Hypoxanthine phosphoribosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 25910212, 31515488, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IDA	6300847
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IMP	9824441
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006166	Process	Purine ribonucleoside salvage	IMP	9824441
GO:0006178	Process	Guanine salvage	IBA
GO:0006178	Process	Guanine salvage	IDA	19527031
GO:0007625	Process	Grooming behavior	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	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
GO:0032263	Process	GMP salvage	IDA	4208686
GO:0032263	Process	GMP salvage	IEA
GO:0032264	Process	IMP salvage	IBA
GO:0032264	Process	IMP salvage	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	8044844, 25416956, 25502805, 31515488, 32296183
GO:0043103	Process	Hypoxanthine salvage	IDA	19527031
GO:0044209	Process	AMP salvage	IEA
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:0046083	Process	Adenine metabolic process	IEA
GO:0046100	Process	Hypoxanthine metabolic process	IBA
GO:0046100	Process	Hypoxanthine metabolic process	IEA
GO:0046100	Process	Hypoxanthine metabolic process	IEA
GO:0046100	Process	Hypoxanthine metabolic process	IMP	9824441
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0051289	Process	Protein homotetramerization	IPI	15990111
GO:0052657	Function	Guanine phosphoribosyltransferase activity	IDA	4208686, 19527031
GO:0052657	Function	Guanine phosphoribosyltransferase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071542	Process	Dopaminergic neuron differentiation	IEA

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

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
HPRT ANN ARBOR	Pathogenic	rs137852477	RCV000010713	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT ARLINGTON	Likely pathogenic	rs137852478	RCV000010715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT ASHVILLE	Pathogenic	rs137852479	RCV000010717	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT CHERMSIDE	Pathogenic	rs2077673385	RCV001255650	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT CHICAGO	Pathogenic	rs2077615673	RCV001255648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT COORPAROO	Pathogenic	rs2077615719	RCV001255651	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT DETROIT	Pathogenic	rs137852480	RCV000010723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT EVANSVILLE	Pathogenic	rs387906428	RCV000010725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT FLINT	Pathogenic	rs137852481	RCV000010727	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT FUJIMI	Pathogenic	rs137852494	RCV000010762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT LONDON	Likely pathogenic	rs137852482	RCV000010731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT MICHIGAN	Pathogenic	rs2520840422	RCV001255646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT MIDLAND	Pathogenic	rs137852483	RCV000010735	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT MILWAUKEE	Likely pathogenic	rs137852484	RCV000010737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT MONTREAL	Pathogenic	rs137852495	RCV000010764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT MOOSE JAW	Pathogenic	rs137852504	RCV000010792	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT MUNICH	Pathogenic	rs137852485	RCV000010739	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT NEW BRITON	Pathogenic	rs137852486	RCV000010741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT NEW HAVEN	Pathogenic	rs137852487	RCV000010743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT PARIS	Pathogenic	rs137852505	RCV000010794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT SWAN	Pathogenic	rs137852501	RCV000010782	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT TOOWONG	Pathogenic	rs137852500	RCV000010780	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT TORONTO	Pathogenic	rs137852494	RCV000010760	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT URANGAN	Pathogenic	rs137852499	RCV000010778	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT YALE	Likely pathogenic	rs137852488	RCV000010745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPRT1-related disorder	Likely pathogenic; Pathogenic	rs1569360139, rs1569354918, rs137852495, rs387906725	RCV004545723 RCV004549355 RCV004545724 RCV003398561	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lesch-Nyhan syndrome	Pathogenic; Likely pathogenic	rs2077687093, rs2124280474, rs2124291450, rs2124305307, rs2124302051, rs2124280518, rs2124290355, rs2124305218, rs2124305315, rs2124302024, rs2124290378, rs398123240, rs2124291470, rs2124280504, rs786200980, rs2520840504, rs2520785689, rs2520813482, rs2520844451, rs267606863, rs137852478, rs2077615673, rs137852480, rs387906428, rs137852481, rs137852482, rs2520840422, rs137852483, rs137852484, rs137852486, rs137852487, rs137852488, rs137852489, rs137852490, rs137852491, rs137852492, rs2520780876, rs2520821498, rs2520785174, rs1569360139, rs672601245, rs1569360089, rs1569354918, rs137852493, rs137852494, rs137852496, rs137852497, rs2077673385, rs2077615719, rs137852505, rs1247346147, rs2520830173, rs2520780587, rs2520785330, rs387906725, rs1135401801, rs1556030169, rs369065223, rs1602745376, rs1602741150, rs2077615821, rs2077687102, rs2077579380, rs2077687660, rs398123241	RCV001342916 RCV001377126 RCV001387578 RCV001542504 RCV002037640 RCV001941798 RCV001889471 RCV001973926 RCV001972480 RCV001951336 RCV002249075 RCV002249076 RCV002250052 RCV002274283 RCV001198061 RCV002471511 RCV003041482 RCV003050653 RCV003066379 RCV003050654 RCV003142331 RCV001851783 RCV000010718 RCV000010722 RCV000010724 RCV000010726 RCV000010728 RCV003764546 RCV000010732 RCV000010734 RCV003764547 RCV000010740 RCV000010742 RCV000010744 RCV000010746 RCV000010747 RCV000010748 RCV000010749 RCV000010751 RCV000010752 RCV000010753 RCV000010754 RCV000010755 RCV000010756 RCV000010757 RCV000010758 RCV000010761 RCV000010765 RCV000010766 RCV000010783 RCV000010785 RCV000010793 RCV003444515 RCV003783780 RCV003783781 RCV003782792 RCV003805364 RCV000690811 RCV000496113 RCV000631415 RCV000706332 RCV000810491 RCV000800143 RCV000990949 RCV001067702 RCV001051587 RCV001063460 RCV001045083 RCV001233727 RCV005222740 RCV001854376	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-nyhan syndrome, neurologic variant	Pathogenic	rs137852495, rs387906725	RCV000010763 RCV000022877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic	rs137852494	RCV001252944	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis/nephrocalcinosis	Likely pathogenic	rs2520785056, rs1556026984	RCV004057171 RCV004025274	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs398123241	RCV005886165	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	Pathogenic; Likely pathogenic	rs2077687093, rs2124280474, rs2124291450, rs2124302051, rs2124280518, rs2124290355, rs2124305218, rs2124305315, rs2124302024, rs786200980, rs2520785689, rs2520813482, rs2520844451, rs137852477, rs137852478, rs137852479, rs137852482, rs137852484, rs137852485, rs137852487, rs137852489, rs137852490, rs137852494, rs137852497, rs137852498, rs137852499, rs137852500, rs137852501, rs2077673385, rs137852504, rs137852506, rs1247346147, rs2520830173, rs2520780587, rs2520785330, rs387906725, rs1556030169, rs369065223, rs1602745376, rs2077615821, rs2077687102, rs2077579380, rs2077687660, rs398123240, rs398123241	RCV001342916 RCV001377126 RCV001387578 RCV002037640 RCV001941798 RCV001889471 RCV001973926 RCV001972480 RCV001951336 RCV001229151 RCV003041482 RCV003050653 RCV003066379 RCV003050654 RCV000010712 RCV000010714 RCV000010716 RCV000010730 RCV000010736 RCV000010738 RCV001851784 RCV000631414 RCV001250108 RCV000010759 RCV001224361 RCV003764548 RCV000010776 RCV000010777 RCV000010779 RCV000010781 RCV003764549 RCV000010791 RCV000010796 RCV003783780 RCV003783781 RCV003782792 RCV003805364 RCV000690811 RCV000631415 RCV000706332 RCV000810491 RCV000800143 RCV001067702 RCV001051587 RCV001063460 RCV001045083 RCV001233727 RCV005222740 RCV001854376	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs137852484, rs398123241	RCV005912505 RCV005886166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT, HPRT-RELATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HPRT EDINBURGH	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HPRT TOKYO	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA, HPRT-RELATED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	7692286		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11753611, 15231655, 15388815, 7692286		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12473739, 2908855		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25505129		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7692286		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	10219255		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21305049	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	10828048	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30831305		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	19565499	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	15334740, 15862284, 2385250, 26968365, 6087154		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	11714443, 7683756		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	LHGDN	11714443		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11714443	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28782500		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28782500		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10219255		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	11080821		★☆☆☆☆ Found in Text Mining only
Borjeson-Forssman-Lehmann syndrome	Borjeson-Forssman-Lehmann Syndrome	BEFREE	2624254		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36445406	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11691786, 12351149		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18158561, 26586723, 8143613	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19200351	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10863157, 11219770		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18072593	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34940125	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	18194512		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	18194512		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30799092		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	7692286, 8640832		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	27871465		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	11307586, 12508781		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10616526		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	7911034		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25612837	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30831305		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28976243		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14767555, 8622858, 9214593		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	14767555		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	20186333		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20186333	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21059236, 32424999, 8022779	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10590424, 10913908, 11018745, 11535253, 12816523, 15282322, 16949064, 1719390, 20193773, 2784484, 7523909, 9685705		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	7920025		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29095075		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	7730448		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	10219255		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	17448149	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10075863		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23975452, 25503620, 25612837		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36445406	Associate	★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	21305049	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	23639073	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	22266404		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19050323		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	2741943		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	8053655		★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	3940625		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	10635999, 2236046, 7689157, 8377656		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	2236046, 7846061	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	10635999, 2236046, 7689157, 8377656		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	21215816, 8174085		★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	3081902		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19257903	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31870167	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	1184748, 21054786, 3358423, 4353774, 4527800, 6309910, 6572373, 6706936, 6853490	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	BEFREE	1306134, 8112742		★☆☆☆☆ Found in Text Mining only
Gout	Gout	LHGDN	16216473		★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout, HPRT-Related	Gout	BEFREE	10657589, 11307586, 1306134, 15571223, 15965771, 16245252, 18316217, 18600506, 20544509, 21780909, 24940672, 9824441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout, HPRT-Related	Gout	ORPHANET_DG	10657589, 26073243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout, HPRT-Related	Gout	CLINVAR_DG	11018746, 1934271, 22132984, 2347587, 28045594, 9288634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout, HPRT-Related	Gout	UNIPROT_DG	15571223, 17027311, 20544509, 24940672, 2896620, 2909537, 3198771, 3358423, 6572373, 6706936, 6853490, 7987318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout, HPRT-Related	Gout	CTD_human_DG	23348497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout, HPRT-Related	Gout	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	7730448		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	9479867		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	11756148	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytosis	Histiocytosis	BEFREE	8008029		★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	8097258		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26772907		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	10451080, 11018746, 11336982, 12508781, 1487231, 15334740, 15571220, 16216473, 17027311, 17454734, 19016344, 22194167, 23348497, 23622405, 24001192, 24940672, 25136576, 25476133, 28782500, 29879316, 3508703, 6796771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	Pubtator	11818556, 18287946, 19565499, 22194167, 25136576, 26073243, 2896620, 4341698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	LHGDN	16216473, 17454734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	CTD_human_DG	23348497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxanthine guanine phosphoribosyltransferase partial deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	18316217, 20544511		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21381155		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32424999	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	11891689, 17416296, 27185581		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	31173291	Associate	★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	10683677, 10737990, 11068166, 11307586, 11336982, 11350162, 11562934, 11668636, 11771623, 11891689, 12508781, 12618088, 1282899, 1301916, 1306134, 1487231, 15140374, 15146465, 15277709, 15386453, 15505382, 15571220, 15571223, 15571229, 15862284, 16216473, 16343967, 16549399, 16826447, 17027311, 17062485, 17309125, 17416296, 17448149, 17454734, 18316217, 18600506, 19016344, 19259384, 19342420, 2018042, 20544509, 20544510, 20544511, 20558399, 2071157, 21780909, 22042773, 22132985, 22183764, 22331909, 22403020, 22766437, 22908952, 23046577, 2323782, 23473102, 23804752, 2385250, 24001192, 24326440, 24503445, 24680827, 24891139, 24940671, 24940672, 2551779, 25940910, 25965333, 2624182, 26296934, 27079129, 27185581, 27379977, 27420966, 27754763, 28045594, 28192196, 28524722, 28712454, 28782500, 2910902, 29185864, 29305058, 29634397, 30001695, 30740729, 30818063, 30831305, 31129767, 3265398, 3384338, 3508703, 4322125, 6087154, 7074901, 7112549, 7228031, 7398108, 7586656, 8111415, 8112742, 8232348, 8314557, 8381385, 8664901, 8946118, 9288634, 9670994, 9733436, 9799086, 9824441		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	CLINVAR_DG	11018746, 1934271, 22132984, 2347587, 28045594, 9288634		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	LHGDN	11668636, 15277709, 15571224, 15862283, 16216473, 17454734, 18316217, 18409516		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	UNIPROT_DG	15571223, 17027311, 20544509, 2071157, 2246854, 2347587, 2358296, 24940672, 2572141, 2910902, 3265398, 3384338, 6853716, 7627191, 9452051		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	GENOMICS_ENGLAND_DG	20176575, 27079129, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	CLINGEN_DG	2323782, 24206569, 28495876, 2928313, 3029599, 8664901		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan syndrome	Lesch-Nyhan Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lesch-Nyhan Syndrome, Neurologic Variant	Lesch-Nyhan Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	10635986, 16807138, 16838078, 18407966		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16951156		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	12632522, 3479681	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	8637249		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21381155		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15180947, 19200351		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15180947		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34752497	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10863157		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	7828367		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20727381		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	23639073	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11691786, 12351149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	11698345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10863157, 11219770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	8423021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16211407, 24324056, 28861591, 29115578		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10636001, 10863157, 18317805, 29730818, 30679932, 7513809, 7689157, 8640832, 9463556, 9598152		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14767555, 8622858		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11336986, 21182840		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34940125	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29079997		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 46	Mental retardation	BEFREE	9783701		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	11452360	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	3575027		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	23975452, 25503620, 25612837		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	BEFREE	3081902		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	24813078	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	1689076, 7526775, 7544077, 8040252, 8309581		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	8040252	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	26395032		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	1719396		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	2562924	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	8597608		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	2775657		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	10219255		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21052085	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12132590, 16296879, 16319328, 20186333, 20507635, 20678196, 24156825, 25473950, 26586723		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	19565499, 2896620	Associate	★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19672249	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	2347587, 2551779, 31182398, 8664901		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11684038, 15681479, 17448149, 21305049, 22042773		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15681479	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	23804752		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19543558, 25573171, 28408844		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	2081601		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	2081601	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31712560		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34035425	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16158952, 24443563	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31645594		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	10389589, 15086421		★☆☆☆☆ Found in Text Mining only
Podagra	Podagra	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28761164, 32729067	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15388815		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	8640832		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	10535861		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16211407, 24324056, 28861591, 29115578		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29386530, 33812866	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31601710	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	2344009		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	9778218		★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	25768100		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22266404		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	24858725		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	7909248, 8209924		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	37773022	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	11080821		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19650912, 33628816, 34231338, 37371537	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20507635	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	8129457		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31645594	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31645594		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	1973172	Associate	★☆☆☆☆ Found in Text Mining only
Type I Mucolipidosis	Mucolipidosis	BEFREE	3081902		★☆☆☆☆ Found in Text Mining only
Uric acid renal calculus	Uric Acid Renal Calculus	BEFREE	12508781		★☆☆☆☆ Found in Text Mining only
Uric acid renal calculus	Uric Acid Renal Calculus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uric acid urolithiasis	Uric Acid Urolithiasis	BEFREE	12508781		★☆☆☆☆ Found in Text Mining only
Uric acid urolithiasis	Uric Acid Urolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27835695	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	2762303	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	1404291, 8097258		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	18158561, 7683756, 8538650, 9379920		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	18158561	Associate	★☆☆☆☆ Found in Text Mining only